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Artículos de revistas sobre el tema "Kiaa1217"

Autor: Grafiati

Publicado: 22 de febrero de 2025

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1

Wang, Yanhong, Na Li, Yanping Zheng, Anqing Wang, Chunlei Yu, Zhenbo Song, Shuyue Wang et al. "KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3". International Journal of Molecular Sciences 23, n.º 1 (22 de diciembre de 2021): 104. http://dx.doi.org/10.3390/ijms23010104.

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The survival and prognosis of hepatocellular carcinoma (HCC) are poor, mainly due to metastasis. Therefore, insights into the molecular mechanisms underlying HCC invasion and metastasis are urgently needed to develop a more effective antimetastatic therapy. Here, we report that KIAA1217, a functionally unknown macromolecular protein, plays a crucial role in HCC metastasis. KIAA1217 expression was frequently upregulated in HCC cell lines and tissues, and high KIAA1217 expression was closely associated with shorter survival of patients with HCC. Overexpression and knockdown experiments revealed that KIAA1217 significantly promoted cell migration and invasion by inducing epithelial-mesenchymal transition (EMT) in vitro. Consistently, HCC cells overexpressing KIAA1217 exhibited markedly enhanced lung metastasis in vivo. Mechanistically, KIAA1217 enhanced EMT and accordingly promoted HCC metastasis by interacting with and activating JAK1/2 and STAT3. Interestingly, KIAA1217-activated p-STAT3 was retained in the cytoplasm instead of translocating into the nucleus, where p-STAT3 subsequently activated the Notch and Wnt/β-catenin pathways to facilitate EMT induction and HCC metastasis. Collectively, KIAA1217 may function as an adaptor protein or scaffold protein in the cytoplasm and coordinate multiple pathways to promote EMT-induced HCC metastasis, indicating its potential as a therapeutic target for curbing HCC metastasis.

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2

Al Dhaheri, Noura, Nan Wu, Sen Zhao, Zhihong Wu, Robert D. Blank, Jianguo Zhang, Cathy Raggio et al. "KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations". American Journal of Medical Genetics Part A 182, n.º 7 (5 de mayo de 2020): 1664–72. http://dx.doi.org/10.1002/ajmg.a.61607.

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Karasugi, Tatsuki, Kei Semba, Yuichiro Hirose, Anthi Kelempisioti, Masahiro Nakajima, Atsushi Miyake, Tatsuya Furuichi et al. "Association of the Tag SNPs in the HumanSKTGene (KIAA1217) With Lumbar Disc Herniation". Journal of Bone and Mineral Research 24, n.º 9 (septiembre de 2009): 1537–43. http://dx.doi.org/10.1359/jbmr.090314.

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4

Lee, Mi-Sook, Ryong Nam Kim, Hoseok I, Doo-Yi Oh, Ji-Young Song, Ka-Won Noh, Yu-Jin Kim et al. "Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma". Oncotarget 7, n.º 24 (2 de mayo de 2016): 36101–14. http://dx.doi.org/10.18632/oncotarget.9137.

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5

Knyazeva, E. A., S. V. Nikulin, A. Yu Khristichenko, V. A. Petrov, A. Turchinovich y A. A. Sergievich. "HIF-1α Activation Reduces Expression of the microRNA hsa-miR-603 Host Gene KIAA1217 and Increases Expression of the Target CCND1 Gene in BeWo b30 Cells". Biotekhnologiya 35, n.º 6 (2019): 80–86. http://dx.doi.org/10.21519/0234-2758-2019-35-6-80-86.

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The model of the placental barrier based on the human choriocarcinoma cell line BeWo b30 allows studying the effect of hypoxia on trophoblast cells. The effect of the oxyquinoline derivative inhibiting HIF-prolyl hydroxylases was studied on this model. Inhibition of these enzymes leads to an increase in the HIF-1α subunit in the cytoplasm, mimicking the cell response to hypoxia. Incubation of the cells with the drug at a concentration of 10 uM for 24 h did not affect the paracellular transport, but reduced the transport of glucose through the cell barrier. The transcriptome analysis after the exposure with oxyquinoline derivative revealed a decreased expression of the KIAA1217 gene and its intronic gene MIR603, which encodes microRNA hsa-miR-603. The expression of the target gene of this miRNA, CCND1 encoding cyclin D1, after oxyquinoline derivative exposition increased significantly, which may indicate a potential microRNA-mRNA regulatory mechanism in the response of trophoblast cells to hypoxia. BeWo b30, placenta, hypoxia, oxyquinoline, barrier, microRNA, cyclin The study was performed with the equipment of the «Postgenomic and Metabolomic Methods of Study in Molecular Biology» Common Use Center (BioClinicum Scientific and Technical Center). The study was supported by the Ministry of Education and Science of the Russian Federation in the framework of the Federal Targeted Program for Research and Development in Priority Areas of Advancement of the Russian Scientific and Technological Complex for 2014-2020 (Project no. RFMEFI58817X0007).

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6

Mohammadi, Ali, Sadegh Alijani, Seyed Abbas Rafat y Rostam Abdollahi-Arpanahi. "Genome-Wide Association Study and Pathway Analysis for Female Fertility Traits in Iranian Holstein Cattle". Annals of Animal Science 20, n.º 3 (1 de julio de 2020): 825–51. http://dx.doi.org/10.2478/aoas-2020-0031.

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AbstractFemale fertility is an important trait that contributes to cow’s profitability and it can be improved by genomic information. The objective of this study was to detect genomic regions and variants affecting fertility traits in Iranian Holstein cattle. A data set comprised of female fertility records and 3,452,730 pedigree information from Iranian Holstein cattle were used to predict the breeding values, which were then employed to estimate the de-regressed proofs (DRP) of genotyped animals. A total of 878 animals with DRP records and 54k SNP markers were utilized in the genome-wide association study (GWAS). The GWAS was performed using a linear regression model with SNP genotype as a linear covariate. The results showed that an SNP on BTA19, ARS-BFGL-NGS-33473, was the most significant SNP associated with days from calving to first service. In total, [69] significant SNPs were located within 27 candidate genes. Novel potential candidate genes include OSTN, DPP6, EphA5, CADPS2, Rfc1, ADGRB3, Myo3a, C10H14orf93, KIAA1217, RBPJL, SLC18A2, GARNL3, NCALD, ASPH, ASIC2, OR3A1, CHRNB4, CACNA2D2, DLGAP1, GRIN2A and ME3. These genes are involved in different pathways relevant to female fertility and other characteristics in mammals. Gene set enrichment analysis showed that thirteen GO terms had significant overrepresentation of genes statistically associated with female fertility traits. The results of network analysis identified CCNB1 gene as a hub gene in the progesterone-mediated oocyte maturation pathway, significantly associated with age at first calving. The candidate genes identified in this study can be utilized in genomic tests to improve reproductive performance in Holstein cattle.

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7

Iwadate, Manabu, Norisato Mitsutake, Michiko Matsuse, Toshihiko Fukushima, Satoshi Suzuki, Yoshiko Matsumoto, Chiyo Ookouchi et al. "The Clinicopathological Results of Thyroid Cancer With BRAF V600E Mutation in the Young Population of Fukushima". Journal of Clinical Endocrinology & Metabolism 105, n.º 12 (22 de agosto de 2020): e4328-e4336. http://dx.doi.org/10.1210/clinem/dgaa573.

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Abstract Background Thyroid ultrasound screening for children aged 0 to 18 years was performed in Fukushima following the accident at the Fukushima Daiichi Nuclear Power Plant. As a result, many thyroid cancer cases were detected. To explore the carcinogenic mechanisms of these cancers, we analyzed their clinicopathological and genetic features. Methods We analyzed 138 cases (52 males and 86 females) who had undergone surgery between 2013 and 2016 at Fukushima Medical University Hospital. Postoperative pathological diagnosis revealed 136 (98.6%) cases of papillary thyroid cancer (PTC). Results The BRAFV600E mutation was detected using direct DNA sequencing in 96 (69.6%) of the thyroid cancer cases. In addition, oncogenic rearrangements were detected in 23 cases (16.7%). Regarding chromosomal rearrangements, 8 (5.8%) RET/PTC1, 6 (4.3%) ETV6(ex4)/NTRK3, 2 (1.4%) STRN/ALK, and 1 each of RET/PTC3, AFAP1L2/RET, PPFIBP/RET, KIAA1217/RET, ΔRFP/RET, SQSTM1/NTRK3 and TPR/NTRK1 were detected. Tumor size was smaller in the BRAFV600E mutation cases (12.8 ± 6.8 mm) than in wild-type BRAF cases (20.9 ± 10.5 mm). In the BRAFV600E mutation cases, 83 (86.5%) showed lymph node metastasis, whereas 26 (61.9%) of the wild-type BRAF cases showed lymph node metastasis. Conclusions The BRAFV600E mutation was mainly detected in residents of Fukushima, which was different from post-Chernobyl PTC cases with RET/PTC3 rearrangement. PTC with the BRAFV600E mutation was smaller but was shown in the high rate of central cervical lymph node metastasis than the wild-type BRAF PTC in the young population of Fukushima.

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8

Kuroda, Naoto, Kiril Trpkov, Yuan Gao, Maria Tretiakova, Yajuan J. Liu, Monika Ulamec, Kengo Takeuchi et al. "ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217". Modern Pathology 33, n.º 12 (28 de mayo de 2020): 2564–79. http://dx.doi.org/10.1038/s41379-020-0578-0.

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9

Lin, Rongbo, Shen Zhao, Lisheng Cai, Shaoqin Chen, Jinhuo Lai, Yong Fang, Xiuyu Cai et al. "Real-world fusion landscape in advanced Chinese gastric cancer using next generation sequencing: A multicenter study." Journal of Clinical Oncology 37, n.º 4_suppl (1 de febrero de 2019): 51. http://dx.doi.org/10.1200/jco.2019.37.4_suppl.51.

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51 Background: Gastric cancer (GC) is a highly heterogeneous disease. Cell-free DNA (cfDNA) has been a research hotspot in molecular tumor profiling. In advanced GC patients, malignant pleural effusion (MPE) and ascites provide a wealth of tumor cells that can be investigated. The aim of this study is to investigate fusion landscape in advanced GC. Methods: A multicenter study in China was initiated from Aug. 2016, and GC patients have been enrolled as of Aug. 2018. To determine the fusion frequency in GC, we analyzed data from 371clinical GC cases, each of which had results from next-generation sequencing (NGS)-based 381 genes panel assay, analogous to the index patient. Results: Of this entire cohort, 61 patients (16.44%) were identified with fusions, including TMEM45B-FGF3 (3), AXIN1-SMPD3 (3), B3GNTL1-ERBB2 (2), ERBB2-LAMA3 (2), ERBB2-ACLY (2), TRIM24-BRAF (2), ARHGEF1-CD79A (2), FGFR4-UIMC1 (2), MSH2-TTC7A (2), SMARCA4-LDLR (2), GON4L-RIT1 (2), AKT1-CPSF2 (2), GATA6-COLEC12 (2), RICTOR-EFNA5 (2), KAT6A-PLAT (2), ROCK1-CCDC178 (2), HBS1L-MYB (2), SLC30A2-ARID1A (2), MSI2-BIRC5 (2), NOTCH3-UCA1 (2), PIK3C2B-KISS1 (2), RICTOR-OSMR (2), FGFR2-MIR5694 (2), FGFR2-FGFR1 (2), MAN2A2-BLM (2), EGFR-MED15 (1), EML4-ALK(1), GOPC-ROS1 (1), FXR2-TP53 (1), NF1-PSMD11 (1), IRS2-PRKCI (1), FGFR2-KIAA1217(1), FGFR2-TACC2 (1), FGFR3-TACC3 (1). ERBB2, BRAF, EGFR, ALK and ROS1 fusionswere seen in 18.03% (11/61) of advanced Chinese gastric cancer fusion landscape patients. Conclusions: Advanced Chinese gastric cancer fusion landscape is rich, ERBB2, BRAF, EGFR, ALK and ROS1 fusions are rare but potentially druggable in TKIs. Detection of ERBB2, BRAF, EGFR, ALK and ROS1 fusions should be part of comprehensive profiling panels to determine TKIs and direct appropriate combination therapeutic strategies.

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10

Cleary, James M., Martin Henner Voss, Funda Meric-Bernstam, Cinta Hierro, Rebecca Suk Heist, Nobuya Ishii, Yulia Kirpicheva et al. "Safety and efficacy of the selective FGFR inhibitor debio 1347 in phase I study patients with FGFR genomically activated advanced biliary tract cancer (BTC)." Journal of Clinical Oncology 36, n.º 4_suppl (1 de febrero de 2018): 447. http://dx.doi.org/10.1200/jco.2018.36.4_suppl.447.

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447 Background: BTC are aggressive tumors with limited treatment options and poor overall survival. Aberrant FGFR signaling has been implicated in BTC carcinogenesis. Debio 1347 is an orally available selective FGFRi with potent antitumor effect in preclinical model bearing FGFR alterations. Debio 1347 showed encouraging preliminary clinical activity and manageable treatment-emergent adverse events (TEAE) in its first-in-human (FIH) ph1 study (NCT1948297) dose-escalating part. Here we report only results from the BTC pts of this study. Methods: This FIH study enrolled pts with advanced solid malignancies harboring defined activating alterations of FGFR 1, 2, or 3: amplifications (amp), mutations (mut) and translocations (trans). Pharmacokinetics (PK) and pharmacodynamics were serially evaluated in blood, skin and/or tumor tissue. A confirmatory post-hoc analysis was performed centrally for all available biopsies. Results: Eight pts, six with intrahepatic cholangiocarcinoma (iCCA) and two with gallbladder cancer (GBC), were treated with Debio 1347 at doses between 60 and 150 mg orally daily in 28-day cycles. Among the iCCA pts, one had an FGFR2mut, one had an FGFR2 activating deletion (del), and one had an FGFR3mut; the other three had FGFR2trans. One of the two GBC pts had an FGFR3trans, the other one an FGFR2mut. All pts had prior systemic therapy (mostly 2 or 3 lines). The most common TEAEs were hyperphosphatemia (8/8), nail changes (5/8), nausea (5/8), dry mouth (4/8) and stomatitis (3/8). No grade ≥ 3 related TEAE were reported except grade 3 hyperphosphatemia (4/8). PK was comparable to that in pts with other solid malignancies.A partial response lasting up to 48 weeks was observed in an iCCA pt (FGFR2 del exon 5); three additional iCCA pts (FGFR2trans: ROCK1; KIAA1217; DDX21) and one GBC pt (FGFR3-TACC3 trans) had target lesions regression < 30% and stayed on trial between 24 – 37 weeks. Overall disease control was 62.5%. Conclusions: These results suggest that BTC pts with genomic events leading to activation of FGFR2/3 may benefit from treatment with Debio 1347. Further study is ongoing in the expansion cohort of this trial. Clinical trial information: NCT1948297.

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Iwamori, Tokuko, Naoki Iwamori, Masaki Matsumoto, Hiroyuki Imai y Etsuro Ono. "Novel localizations and interactions of intercellular bridge proteins revealed by proteomic profiling†". Biology of Reproduction 102, n.º 5 (29 de enero de 2020): 1134–44. http://dx.doi.org/10.1093/biolre/ioaa017.

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Abstract Intercellular bridges (ICBs) connecting germ cells are essential for spermatogenesis, and their deletion causes male infertility. However, the functions and component factors of ICBs are still unknown. We previously identified novel ICB-associated proteins by proteomics analysis using ICB enrichment. Here, we performed immunoprecipitation–proteomics analyses using antibodies specific to known ICB proteins MKLP1, RBM44, and ectoplasmic specialization-associated protein KIAA1210 and predicted protein complexes in the ICB cores. KIAA1210, its binding protein topoisomerase2B (TOP2B), and tight junction protein ZO1 were identified as novel ICB proteins. On the other hand, as well as KIAA1210 and TOP2B, MKLP1 and RBM44, but not TEX14, were localized at the XY body of spermatocytes, suggesting that there is a relationship between ICB proteins and meiotic chromosomes. Moreover, small RNAs interacted with an ICB protein complex that included KIAA1210, RBM44, and MKLP1. These results indicate dynamic movements of ICB proteins and suggest that ICB proteins could be involved not only in the communication between germ cells but also in their epigenetic regulation. Our results provide a novel perspective on the function of ICBs and could be helpful in revealing the biological function of the ICB.

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12

Madison, Russell, Ethan Sokol, Alexa Betzig Schrock, Adrienne Johnson, Dean Pavlick, Julia Andrea Elvin, Jo-Anne Vergilio et al. "FGFR2: A pan-genomic target." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): 3099. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.3099.

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3099 Background: FGFR2 genomic alterations (GA) have been described in a variety of solid tumors and emerged as biomarkers for investigational agents undergoing clinical trials. Methods: 201,766 primarily relapsed/refractory malignancies were evaluated with a hybrid-capture based sequencing assay Tumor mutational burden (TMB) was determined on 0.8-1.1 Mbp of sequenced DNA and reported as mut/Mb. Microsatellite instability (MSI) was determined on 114 loci. PD-L1 expression was determined by IHC (Dako 22C3 antibody). Results: FGFR2 GA were detected in 2,993 (1.5%) cases featuring short variant (SV) mut (42%), copy number changes (27%), rearrangements/fusions (28%) and multiple GA (3%). The most frequent SV GA were S252W, N549K, C382R, P253R, Y375C, K659E and R664W. A small cohort (2%) of tumors featured the V564I and V564L GA that are associated with resistance to TKI drugs. The FGFR2-altered cases were 69% female/31% male with median age of 61 yrs. Most frequent GA in FGFR2 altered cancers: TP53 (47%), PIK3CA (22%), PTEN (20%), ARID1A (18%), CDKN2A/2B (18/14%) and MYC (12%). FGFR2 SVs most common in endometrial, breast carcinomas (ca) and CUP. FGFR2 amplification most common in breast, gastroesophageal and lung ca. FGFR rearrangement/fusions most common in cholangioca (37%), CUP (15%), pancreatobiliary (12%) and breast ca (6%). The FGFR2- BICC1 was the most frequent fusion followed by fusions with TACC2, AHCYL1, CCDC6, VCL, and KIAA1217. MSI-High status present in 6.8% of evaluable FGFR2 altered cases (63% in endometrial ca). Median TMB was 3.5 mut/Mb with 21.8% featuring ≥ 10 mut/Mb and 12.0% featuring ≥ 20 mut/Mb. Only 63% of MSI-High FGFR2 mut tumors had TMB ≥ 20 mut/Mb. 12.7% FGFR2 mut+ had > 1% PD-L1 staining with 3.4% > 50% staining. 29% of PD-L1 IHC+ cases in NSCLC. FGFR mut ca’s responding to anti-FGFR2 therapies will be presented. Conclusions: FGFR2 GA are most frequent in cholangioca, breast, GI tract, lung ca and CUP, with enrichment of FGFR2 fusions in biliary tract ca. Cases with FGFR2 GA typically do not feature other kinase driver GA and are associated with mut in the MTOR/PIK3CA/AKT pathways. Finally, in contrast with RTK driver GA in EGFR (5.7%) and ERBB2 (7.9%), at 12.0%, across all tumor types, FGFR2 mut cancers may have higher frequency of TMB ≥ 20 mut/Mb suggesting potential immunotherapy responsiveness.

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Javle, Milind M., Karthikeyan Murugesan, Rachna T. Shroff, Mitesh J. Borad, Reham Abdel-Wahab, Alexa Betzig Schrock, Jon Chung et al. "Profiling of 3,634 cholangiocarcinomas (CCA) to identify genomic alterations (GA), tumor mutational burden (TMB), and genomic loss of heterozygosity (gLOH)." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): 4087. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.4087.

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4087 Background: The management of CCA has evolved as targeted and immune checkpoint inhibitor (ICPI) therapies have emerged. We used comprehensive genomic profiling (CGP) to characterize the genomic alterations (GA) that have potential to personalize therapy for CCA. Methods: 3634 CCA underwent hybrid capture based CGP on 0.8-1.1 Mb of the coding genome to identify GAs in exons and select introns in up to 404 genes, TMB, microsatellite status (MSI) and % monoallelic genome (gLOH). PD-L1 expression was determined by IHC (Dako 22C3). Results: 52% of CCA were female with a median age of 62 years (range 16 - > 89). The most common biopsy sites were liver (74%), lymph node (4%), bile duct (3.3%), and lung (2%). MSI-high was rare (1%), 118 and 47 cases had TMB > 10 and > 20 mut/mb respectively. Of the latter, 51% (24/47) were MSI-H. PD-L1 amplification (AMP) was present in 0.27%. Of 490 CCA tested, 43 (9%) were positive for PD-L1 expression. 11% of cases had gLOH > 16%, only 2 cases had both TMB > 20 and gLOH > 16%. GA were most common in TP53 (31%), CDKN2A (29%), KRAS (20%) and ARID1A (17%). Potentially targetable GAs included FGFR2 (11%, 85% fusions), BRAF (5%, 50% V600E), ERBB2 (5%, 72% AMP), MET (2%, 90% AMP), EGFR (0.52%) and rarer ( < 0.5%) FGFR3, RET, FGFR1, ALK, and ROS1 fusions. The FGFR2 fusions had 128 unique 3’ partner genes including BICC1 (26%), CCDC6 (3.2%), AHCYL1 (2.6%) and KIAA1217 (2.6%). FGFR2 fusions occurred in a mutually exclusive fashion from high gLOH (p < 0.002), but not high TMB. GA in IDH1 (15%) were mutually exclusive of FGFR2 fusions (p < 1e-13), but co-occurred with PBRM1 GA (23%, p < 1e-21), ARID1A (26% p < 1e-10). IDH1 GA had gLOH similar to the overall CCA population but were enriched for low TMB (p < 1e-3). Conclusions: Nearly 20% of CCA cases harbor targetable kinase GA, half of which were FGFR2 fusions. Independently, an additional 10% (gLOH) and 1% (high TMB, MSI and/or PD-L1 AMP) may benefit from PARP inhibitors and ICPI respectively. Independently, co-mutation of IDH1 and PBRM1/ARID1A defines a class of CCA that warrants further investigation for sensitivity to PARP inhibitors and may serve as a paradigm for other tumors (ie. gliomas) with a similar co-occurrence landscape.

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Bhat-Nakshatri, Poornima, Hongyu Gao, Cihat Erdogan, Yunlong Liu y Harikrishna Nakshatri. "Abstract 2136: Genetic ancestry dependent variability in stromal cells: An unexplored player in breast cancer disparity". Cancer Research 84, n.º 6_Supplement (22 de marzo de 2024): 2136. http://dx.doi.org/10.1158/1538-7445.am2024-2136.

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Abstract Genetic ancestry dependent variability in cancer incidence, mutation patterns, response to chemotherapy, and outcome has been documented. While an association between social determinants of health and breast cancer disparity has already been established, there is emerging evidence for genetic ancestry dependent variability in normal breast biology impacting breast cancer biology and potentially outcome. Tumor biology studies in the context of genetic ancestry and disparity have often focused on intrinsic properties of tumor cells or tumor infiltrating immune cells. However, other stromal cell types have received very little attention. Through immunohistochemistry of breast tissues from healthy women of African and European ancestry and primary cell culturing system, we had previously demonstrated enrichment of a stromal cell population called PZP cells (PROCR+/ZEB1+/PDGFRA+) with mesenchymal stem-like and fibroadipogenic properties in the normal breast tissues of women of African ancestry. In this study, we used single nuclei ATAC-seq and/or RNA-seq to further characterize stromal fibroblasts in the breast tissues of women of Ashkenazi Jewish-European, European, Indigenous American, Hispanic-European, African, and Asian ancestry. Among eight fibroblast cell clusters generated from women of African and European ancestry, only three cell clusters overlapped between two groups. While Complement Factor D (CFD, also called adipsin) expression was observed in unique fibroblast clusters of African ancestry, the expression of Insulin-like Growth Factor 1 (IGF1) was enriched in clusters unique to European ancestry. Interestingly, previous studies have demonstrated African ancestry-specific genomic variants for CFD linked to cardiometabolic disorders. Additional genes that showed genetic ancestry dependent variability in expression within fibroblasts include ABCA10, ABCA9, ABCA8, NEGR1 (enriched in African ancestry), MMP16, MAGI1, KIAA1217, PTPRK and SEMA5A (enriched in European ancestry). NEGR1 (Neuronal Growth Regulator 1) is a trans-neural growth promoting factor, whereas PTPRK (Protein Tyrosine Phosphatase Receptor Type K) is a negative regulator of EGFR signaling. These results suggest genetic ancestry dependent variability in stromal-epithelial cell communications under normal and cancerous conditions. These genetic ancestry dependent differences could impact intracellular signaling networks in epithelial cells with consequential effects on cancer incidence, mutation patterns, drug sensitivity, and outcome. Citation Format: Poornima Bhat-Nakshatri, Hongyu Gao, Cihat Erdogan, Yunlong Liu, Harikrishna Nakshatri. Genetic ancestry dependent variability in stromal cells: An unexplored player in breast cancer disparity [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 2136.

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Hu, Ming, Jing Wei, Liu Yang, Jianhua Xu, Zhaofeng He, Haiyuan Li, Chao Ning y Shijun Lu. "Linc-KIAA1737–2 promoted LPS-induced HK-2 cell apoptosis by regulating miR-27a-3p/TLR4/NF-κB axis". Journal of Bioenergetics and Biomembranes 53, n.º 4 (2 de junio de 2021): 393–403. http://dx.doi.org/10.1007/s10863-021-09897-1.

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AbstractInflammation and renal cell apoptosis participate in sepsis-induced acute kidney injury. Previous research found the upregulation of long non-coding RNA Linc-KIAA1737–2 in hypoxia- or inflammation-challenged human proximal tubular epithelial cells, but its role in sepsis-induced acute kidney injury is underexplored. In this research, we found that Linc-KIAA1737–2 could be upregulated in HK-2 human proximal tubular epithelial cells by LPS treatment, and knock-down of this lncRNA significantly attenuated LPS-induced apoptosis in HK-2 cells, while its overexpression showed opposite effect. MiR-27a-3p was confirmed to interact with Linc-KIAA1737–2 in HK-2 cells by RNA pull-down and dual-luciferase assay. MiR-27a-3p mimic transfection significantly attenuated LPS-induced HK-2 cell apoptosis by downregulating the protein levels of TLR4 and NF-κB, which was overturned by overexpression of Linc-KIAA1737–2. Our results suggested that Linc-KIAA1737–2 could promote LPS-induced apoptosis in HK-2 cells, and presumably sepsis-induced acute kidney injury, by regulating the miR-27a-3p/TLR4/NF-κB axis.

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Itoh, Reina E., Kazuo Kurokawa, Yusuke Ohba, Hisayoshi Yoshizaki, Naoki Mochizuki y Michiyuki Matsuda. "Activation of Rac and Cdc42 Video Imaged by Fluorescent Resonance Energy Transfer-Based Single-Molecule Probes in the Membrane of Living Cells". Molecular and Cellular Biology 22, n.º 18 (15 de septiembre de 2002): 6582–91. http://dx.doi.org/10.1128/mcb.22.18.6582-6591.2002.

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ABSTRACT Rho family G proteins, including Rac and Cdc42, regulate a variety of cellular functions such as morphology, motility, and gene expression. We developed fluorescent resonance energy transfer-based probes which monitored the local balance between the activities of guanine nucleotide exchange factors and GTPase-activating proteins for Rac1 and Cdc42 at the membrane. These probes, named Raichu-Rac and Raichu-Cdc42, consisted of a Cdc42- and Rac-binding domain of Pak, Rac1 or Cdc42, a pair of green fluorescent protein mutants, and a CAAX box of Ki-Ras. With these probes, we video imaged the Rac and Cdc42 activities. In motile HT1080 cells, activities of both Rac and Cdc42 gradually increased toward the leading edge and decreased rapidly when cells changed direction. Under a higher magnification, we observed that Rac activity was highest immediately behind the leading edge, whereas Cdc42 activity was most prominent at the tip of the leading edge. Raichu-Rac and Raichu-Cdc42 were also applied to a rapid and simple assay for the analysis of putative guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs) in living cells. Among six putative GEFs and GAPs, we identified KIAA0362/DBS as a GEF for Rac and Cdc42, KIAA1256 as a GEF for Cdc42, KIAA0053 as a GAP for Rac and Cdc42, and KIAA1204 as a GAP for Cdc42. In conclusion, use of these single-molecule probes to determine Rac and Cdc42 activity will accelerate the analysis of the spatiotemporal regulation of Rac and Cdc42 in a living cell.

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17

L. Snider, Paige, Elizabeth Snider, Olga Simmons, Brenda Lilly y Simon J. Conway. "Analysis of Uncharacterized mKiaa1211 Expression during Mouse Development and Cardiovascular Morphogenesis". Journal of Cardiovascular Development and Disease 6, n.º 2 (22 de junio de 2019): 24. http://dx.doi.org/10.3390/jcdd6020024.

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Mammalian Kiaa1211 and Kiaa1211-like are a homologous pair of uncharacterized, highly conserved genes cloned from fetal and adult brain cDNA libraries. Herein we map the in utero spatiotemporal expression of mKiaa1211 and mKiaa1211L mRNA and their expression patterns in postnatal testis, skin, gastrointestinal, and adipose progenitor tissues. Significantly, mKiaa1211 is present throughout the early stages of mouse heart development, particularly in the second heart field (SHF) lineage as it differentiates from mesenchymal cells into cardiomyocytes. We also show that mKiaa1211 is expressed within several early neuronal tissues destined to give rise to central, peripheral, and sympathetic nervous system structures. Expression profiling revealed that the paralog mKiaa1211L is not expressed during the normal developmental process and that mKiaa1211 expression was noticeably absent from most adult terminally differentiated tissues. Finally, we confirm that a previously uncharacterized CRISPR/CAS-generated mKiaa1211 mouse mutant allele is hypomorphic.

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18

Suganuma, Tamaki y Jerry L. Workman. "Features of the PHF8/KIAA1718 histone demethylase". Cell Research 20, n.º 8 (20 de julio de 2010): 861–62. http://dx.doi.org/10.1038/cr.2010.110.

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19

Xu, D. Q., Y. Z. Xiong, M. Liu, J. Lan, X. F. Ling, C. Y. Deng y S. W. Jiang. "Association Analyses with Carcass Traits in the Porcine KIAA1717 and HUMMLC2B Genes". Asian-Australasian Journal of Animal Sciences 18, n.º 11 (2 de diciembre de 2005): 1519–23. http://dx.doi.org/10.5713/ajas.2005.1519.

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20

Liu, Zhengcheng, Hui Cao, Ye Shi y Rusong Yang. "KIAA1211 plays an oncogenic role in human non-small cell lung cancer". Journal of Cancer 10, n.º 26 (2019): 6747–53. http://dx.doi.org/10.7150/jca.35951.

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21

Zhang, Shengzhe, Kee-Bum Kim, Yuanjian Huang, Dong-Wook Kim, Bongjun Kim, Kyung-Pil Ko, Gengyi Zou et al. "Abstract 1714: CRACD/KIAA1211 loss drives cell plasticity and immune evasion of small cell lung cancer". Cancer Research 83, n.º 7_Supplement (4 de abril de 2023): 1714. http://dx.doi.org/10.1158/1538-7445.am2023-1714.

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Abstract Small cell lung carcinoma (SCLC) is a lethal neuroendocrine type of lung cancer with limited therapeutic options. Despite recent advances in cancer immunotherapy, its efficacy is limited to a small subset of SCLC patient tumors. The molecular origin of the refractoriness to immunotherapy remains elusive. CRACD (Capping protein inhibiting regulator of actin dynamics; KIAA1211/CRAD) gene is frequently mutated and transcriptionally downregulated in SCLC. Cracd knockout (KO) causes the transformation of preneoplastic neuroendocrine cells and significantly accelerates SCLC development in a mouse model initiated by the loss of Rb1, Trp53, and Rbl2 in the lung epithelium. Cracd KO induces tumor cell plasticity generating deregulated cell lineage trajectories of SCLC tumors. Strikingly, Cracd KO SCLC tumors display the complete loss of CD8+ T cells due to epigenetic suppression of the MHC-I pathway. Furthermore, single-cell transcriptomic analyses of SCLC patient samples classified SCLC by concurrent features: CRACD inactivation and tumor antigen presentation impairment. This study suggests CRACD as a tumor suppressor of SCLC that regulates proliferation and immune recognition of cells, providing novel insight into the mechanism of SCLC evading immune surveillance. Citation Format: Shengzhe Zhang, Kee-Bum Kim, Yuanjian Huang, Dong-Wook Kim, Bongjun Kim, Kyung-Pil Ko, Gengyi Zou, Jie Zhang, Sohee Jun, Nicole A. Kirk, Ye Eun Hwang, Young Ho Ban, Joseph M. Chan, Charles M. Rudin, Kwon-Sik Park, Jae-Il Park. CRACD/KIAA1211 loss drives cell plasticity and immune evasion of small cell lung cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1714.

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22

Scrivens, P. James, Baraa Noueihed, Nassim Shahrzad, Sokunthear Hul, Stephanie Brunet y Michael Sacher. "C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking". Molecular Biology of the Cell 22, n.º 12 (15 de junio de 2011): 2083–93. http://dx.doi.org/10.1091/mbc.e10-11-0873.

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TRAPP is a multisubunit tethering complex implicated in multiple vesicle trafficking steps in Saccharomyces cerevisiae and conserved throughout eukarya, including humans. Here we confirm the role of TRAPPC2L as a stable component of mammalian TRAPP and report the identification of four novel components of the complex: C4orf41, TTC-15, KIAA1012, and Bet3L. Two of the components, KIAA1012 and Bet3L, are mammalian homologues of Trs85p and Bet3p, respectively. The remaining two novel TRAPP components, C4orf41 and TTC-15, have no homologues in S. cerevisiae. With this work, human homologues of all the S. cerevisiae TRAPP proteins, with the exception of the Saccharomycotina-specific subunit Trs65p, have now been reported. Through a multidisciplinary approach, we demonstrate that the novel proteins are bona fide components of human TRAPP and implicate C4orf41 and TTC-15 (which we call TRAPPC11 and TRAPPC12, respectively) in ER-to-Golgi trafficking at a very early stage. We further present a binary interaction map for all known mammalian TRAPP components and evidence that TRAPP oligomerizes. Our data are consistent with the absence of a TRAPP I–equivalent complex in mammalian cells, suggesting that the fundamental unit of mammalian TRAPP is distinct from that characterized in S. cerevisiae.

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23

Keefer, Jeffrey R., Shirley H. Purvis, George J. Dover y Kirby D. Smith. "Analysis of the X-Linked F-Cell Production Locus." Blood 106, n.º 11 (16 de noviembre de 2005): 3178. http://dx.doi.org/10.1182/blood.v106.11.3178.3178.

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Abstract This laboratory has previously identified a locus on the X chromosome at Xp22.2–22.3 (F-cell production locus or FCP) that is responsible for approximately 40% of the genetic variability in F-cell number in patients with sickle cell disease (SCD). We have re-examined the association of this region with F-cell production by multipoint linkage analysis. We have confirmed linkage to Xp22.2–22.3 and refined the candidate locus to a region of approximately 3 cM, between markers DXS452 and DXS410, with a maximum LOD score of 3.315. Linkage to a more extended region of 11 cM with an average LOD score of 1.5 could not be excluded. In an effort to identify candidate genes within this region that influence F-cell production, we screened known genes within this region for transcription factor binding sites that had relevance to HbF production. We first searched for CREB binding sites given the involvement of cAMP in of HbF induction in CD34 cells recently identified by this laboratory. Of the 15 ESTs containing CREB sequences, several also had binding sites for NFE2 or NFE2-like transcription factors. We examined 4 genes, 3 within the refined candidate locus (KIAA1280, TBL1X, and KAL1) and one in the more extended locus region (EGFL6) for expression levels within pedigrees of known F-cell phenotypes. Results indicate that, within families, a reduced level of KIAA1280 message is associated with high F-cell phenotypes in lymphoblastoid cells from patients with sickle cell anemia. The other genes examined had no such correlation. KIAA1280, also designated BMO42 is a gene of unknown function that is expressed in bone marrow. The predicted protein contains a region homologous to a conserved protein kinase C domain. While not yet definitive, these studies provide the first suggestive evidence for a candidate gene within the FCP locus. Further studies will attempt to define the function of this gene and explore it’s involvement in F-cell regulation.

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24

FUKUDA, Mitsunori y Katsuhiko MIKOSHIBA. "Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)". Biochemical Journal 354, n.º 2 (1 de marzo de 2001): 249. http://dx.doi.org/10.1042/0264-6021:3540249.

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25

FUKUDA, Mitsunori y Katsuhiko MIKOSHIBA. "Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)". Biochemical Journal 354, n.º 2 (22 de febrero de 2001): 249–57. http://dx.doi.org/10.1042/bj3540249.

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Synaptotagmin (Syt) belongs to a family of type-I membrane proteins and is a protein that consists of a short extracellular N-terminus, a single transmembrane domain, two C2 domains and a short C-terminus. Here, we cloned and characterized a mouse orthologue of human KIAA1427 protein as an atypical Syt (named Syt XIII). Subcellular fractionation and antibody-uptake experiments indicate that Syt XIII is indeed a type-I membrane protein, but, unlike other Syt isoforms, lacks an N-terminal extracellular domain. Syt XIII C2 domains show relatively little similarity to Syt I (less than 35% identity at the amino acid level), and lack key amino acids responsible for Ca2+ binding. Because of these substitutions, the Syt XIII C2 domains did not show Ca2+-dependent phospholipid-binding activity, and Syt XIII is thus classified as a Ca2+-independent isoform. By contrast, the Syt XIII C-terminal domain is highly homologous with other Syt isoforms and can function as a common receptor for neurexin Iα in vitro. Since Syt XIII is expressed in various tissues outside the brain, Syt XIII may be involved in constitutive vesicle transport.

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26

Li, Yaqian, Yan Wang, Yuting Wen, Tao Zhang, Xiaodong Wang, Chuan Jiang, Rui Zheng et al. "Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects". Human Reproduction 37, n.º 1 (15 de noviembre de 2021): 152–77. http://dx.doi.org/10.1093/humrep/deab229.

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Abstract STUDY QUESTION Can whole-exome sequencing (WES) and in vitro validation studies identify new causative genes associated with teratozoospermia, particularly for sperm head defect? SUMMARY ANSWER We investigated a core group of infertile patients, including 82 cases with unexplained abnormal sperm head and 67 individuals with multiple morphological abnormalities of the sperm flagella (MMAF), and revealed rare and novel deleterious gene variants correlated with morphological abnormalities of the sperm head or tail defects. WHAT IS KNOWN ALREADY Teratozoospermia is one of the most common factors causing male infertility. Owing to high phenotypic variability, currently known genetic causes of teratozoospermia can only explain a rather minor component for patients with anomalous sperm-head shapes, and the agents responsible for atypical sperm head shapes remain largely unknown. STUDY DESIGN, SIZE, DURATION We executed WES analysis of a Chinese cohort of patients (N = 149) with teratozoospermia to identify novel genetic causes particularly for defective sperm head. We also sought to reveal the influence of different abnormalities of sperm morphology on ICSI outcome. PARTICIPANTS/MATERIALS, SETTING, METHODS In this study, a cohort of 149 infertile men (82 with abnormal sperm head and 67 with MMAF) were recruited. We implemented WES on infertile patients and analyzed the negative effects of the mutations of candidate genes on their protein conformations and/or expression. We also investigated the candidate genes’ spatiotemporal expression/localization during spermatogenesis in both humans and mice, and explored their interactions with proteins that are known to be involved in sperm development. We also compared the ICSI outcomes of the affected individuals with various aberrations in sperm morphology. MAIN RESULTS AND THE ROLE OF CHANCE We identified rare and deleterious variants of piwi like RNA-mediated gene silencing 4 (PIWIL4: 1/82 patients, 1.21%), coiled-coil and C2 domain containing 1B (CC2D1B: 1/82 patients, 1.21%), cyclin B3 (CCNB3: 1/82 patients, 1.21%), KIAA1210 (KIAA1210: 2/82 patients, 2.43%) and choline phosphotransferase 1 (CHPT1: 1/82 patients, 1.21%), which are novel correlates of morphological abnormalities of the sperm head; functional evidence supports roles for all of these genes in sperm head formation. The mutations of septin 12 (SEPTIN12: 2/82 patients, 2.43%) are suggested to be associated with acrosome defects. We additionally observed novel causative mutations of dynein axonemal heavy chain 2 (DNAH2: 1/67 patients, 1.49%), dynein axonemal heavy chain 10 (DNAH10: 1/67 patients, 1.49%) and dynein axonemal heavy chain 12 (DNAH12: 1/67 patients, 1.49%) in patients with MMAF, and revealed a significantly lower fertilization rate of the abnormal sperm-head group compared to the MMAF group following ICSI. Consequently, our study also suggests that the mutations of PIWIL4 and CC2D1B might be circumvented by ICSI to a degree, and that CHPT1 and KIAA1210 loss-of-function variants might be associated with failed ICSI treatment. LIMITATIONS, REASONS FOR CAUTION In this study, we discovered the relationship between the genotype and phenotype of the novel causative genes of sperm head deformities in humans. However, the molecular mechanism of the relevant genes involved in sperm head development needs to be further illuminated in future research. Furthermore, evidence should be provided using knockout/knock-in mouse models for additional confirmation of the roles of these novel genes in spermatogenesis. WIDER IMPLICATIONS OF THE FINDINGS This cohort study of 149 Chinese infertile men documents novel genetic factors involved in teratozoospermia, particularly in anomalous sperm head formation. For the first time, we suggest that SEPTIN12 is related to human acrosomal hypoplasia, and that CCNB3 is a novel causative gene for globozoospermia in humans. We also uncovered variants in two genes—KIAA1210 and CHPT1associated with acrosomal biogenesis in patients with small or absent acrosomes. Additionally, it is postulated that loss-of-function mutations of PIWIL4 and CC2D1B have a contribution to the abnormal sperm-head formation. Furthermore, we are first to demonstrate the influence of different sperm morphologies on ICSI outcomes and indicates that the abnormal sperm head may play a significant role in fertilization failure. Our findings therefore provide valuable information for the diagnosis of teratozoospermia, particularly with respect to abnormalities of the sperm head. This will allow clinicians to adopt the optimal treatment strategy and to develop personalized medicine directly targeting these effects. STUDY FUNDING/COMPETING INTEREST(S) This work was financed by the West China Second University Hospital of Sichuan University (KS369 and KL042). The authors declare that they do not have any conflicts of interests. TRIAL REGISTRATION NUMBER N/A.

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27

Sikhayeva, N., A. Nakysh, T. Utupov y E. Zholdybayeva. "WHOLE EXOME SEQUENCING OF A PATIENT WITH MORBID OBESITY: TRIO ANALYSIS, PRELIMINARY RESULTS". Eurasian Journal of Applied Biotechnology, n.º 1 (13 de abril de 2023): 56–66. http://dx.doi.org/10.11134/btp.1.2023.5.

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Morbid obesity is a severe form of obesity that leads to numerous cardiovascular, metabolic diseases and cancers, as well as increased mortality. Whole-exome sequencing is the effective tool for studying more extreme forms of disease, such as morbid obesity. The aim of the study is to identify candidate genes involved in the development of morbid obesity using whole exome sequencing. Here in this study, a family from Kazakh cohort having two siblings, one unaffected and one affected with morbid obesity was enrolled. Whole Exome Sequencing (WES) of trio with one affected and unaffected parents was done. The trio analysis revealed a number of potential candidate genes predisposing to morbid obesity. Three genetic models were used: recessive, de novo and compound heterozygote models. In the recessive model, one variant (rs116253946) in the KIAA1671 was identified as a candidate. In the de novo model, 15 polymorphisms located in 10 different genes were identified. In the compound heterozygote model, 6 polymorphisms, located in FRG1 and MST1L genes, were identified. This work presents the preliminary results of the study. Twelve genes identified by WES may be involved in the development of morbid obesity, and are grouped into three main pathophysiological pathways (immune response: MST1L, HLA-DRB5, PRRC2A, KIR2DS4; cell division and structure: CEP170, TEKT4; neuronal response: OR2T34, ANKMY2) or their function remains unknown to date (KIAA1671, TMEM191C, PPP6R2, FRG1).

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28

Huang, Chengyang, Yang Xiang, Yanru Wang, Xia Li, Longyong Xu, Ziqi Zhu, Ting Zhang et al. "Dual-specificity histone demethylase KIAA1718 (KDM7A) regulates neural differentiation through FGF4". Cell Research 20, n.º 2 (19 de enero de 2010): 154–65. http://dx.doi.org/10.1038/cr.2010.5.

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29

Yoder, Michael y Jeffrey D. Hildebrand. "Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization". Cell Motility and the Cytoskeleton 64, n.º 1 (2006): 49–63. http://dx.doi.org/10.1002/cm.20167.

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30

Aguiar, Ricardo C. T., Yoshihiro Yakushijin, Samir Kharbanda, Ravi Salgia, Jonathan A. Fletcher y Margaret A. Shipp. "BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration". Blood 96, n.º 13 (15 de diciembre de 2000): 4328–34. http://dx.doi.org/10.1182/blood.v96.13.4328.

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Abstract Clinical risk factor models such as the International Prognostic Index are used to identify diffuse large B-cell lymphoma (DLB-CL) patients with different risks of death from their diseases. To elucidate the molecular bases for these observed clinical differences in outcome, differential display was used to identify a novel gene, termed BAL (B-aggressivelymphoma), which is expressed at significantly higher levels in fatal high-risk DLB-CLs than in cured low-risk tumors. The major BAL complementary DNA encodes a previously uncharacterized 88-kd nuclear protein with a duplicated N-terminal domain homologous to the nonhistone portion of histone-macroH2A and a C-terminal alpha-helical region with 2 short coiled-coil domains. Of note, the BAL N-terminus and secondary structure resemble those of a recently identified human protein, KIAA1268. In addition, bothBAL and KIAA1268 map to chromosome 3q21, further suggesting that these genes belong to a newly identified family. BAL is expressed at increased levels in DLB-CL cell lines with an activated peripheral B cell, rather than a germinal center B cell, phenotype. This observation and the characteristic dissemination of high risk DLB-CLs prompted studies regarding the role of BAL in B-cell migration. In classical transwell assays, stable BAL-overexpressing B-cell lymphoma transfectants had significantly higher rates of migration than vector-only transfectants, indicating that the risk-related BAL gene promotes malignant B-cell migration.

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31

Aguiar, Ricardo C. T., Yoshihiro Yakushijin, Samir Kharbanda, Ravi Salgia, Jonathan A. Fletcher y Margaret A. Shipp. "BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration". Blood 96, n.º 13 (15 de diciembre de 2000): 4328–34. http://dx.doi.org/10.1182/blood.v96.13.4328.h8004328_4328_4334.

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Clinical risk factor models such as the International Prognostic Index are used to identify diffuse large B-cell lymphoma (DLB-CL) patients with different risks of death from their diseases. To elucidate the molecular bases for these observed clinical differences in outcome, differential display was used to identify a novel gene, termed BAL (B-aggressivelymphoma), which is expressed at significantly higher levels in fatal high-risk DLB-CLs than in cured low-risk tumors. The major BAL complementary DNA encodes a previously uncharacterized 88-kd nuclear protein with a duplicated N-terminal domain homologous to the nonhistone portion of histone-macroH2A and a C-terminal alpha-helical region with 2 short coiled-coil domains. Of note, the BAL N-terminus and secondary structure resemble those of a recently identified human protein, KIAA1268. In addition, bothBAL and KIAA1268 map to chromosome 3q21, further suggesting that these genes belong to a newly identified family. BAL is expressed at increased levels in DLB-CL cell lines with an activated peripheral B cell, rather than a germinal center B cell, phenotype. This observation and the characteristic dissemination of high risk DLB-CLs prompted studies regarding the role of BAL in B-cell migration. In classical transwell assays, stable BAL-overexpressing B-cell lymphoma transfectants had significantly higher rates of migration than vector-only transfectants, indicating that the risk-related BAL gene promotes malignant B-cell migration.

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32

Lai, Fenju, Kaishun Hu, Yuanzhong Wu, Jianjun Tang, Yi Sang, Jingying Cao y Tiebang Kang. "Human KIAA1018/FAN1 nuclease is a new mitotic substrate of APC/CCdh1". Chinese Journal of Cancer 31, n.º 9 (5 de septiembre de 2012): 440–48. http://dx.doi.org/10.5732/cjc.012.10144.

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Lim, Young-Min, InSong Koh, Young-Mi Park, Jae-Jung Kim, Dae-Seong Kim, Hyo-Jin Kim, Kyu-Heum Baik et al. "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy". Neuromuscular Disorders 22, n.º 5 (mayo de 2012): 394–400. http://dx.doi.org/10.1016/j.nmd.2011.11.006.

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Zheng, Shu-Tao, Chen-Chen Yang, Qing Liu, Tao Liu, Mang Lu, Fang Dai, Xiang-Peng Gao, Ilyar Sheyhidin y Xiao-Mei Lu. "KIAA1377 is associated with lymph node metastasis in esophageal squamous cell carcinoma". Oncology Letters 12, n.º 6 (2 de noviembre de 2016): 5223–28. http://dx.doi.org/10.3892/ol.2016.5343.

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35

Xu, D. Q., M. Liu, Y. Z. Xiong, C. Y. Deng, S. W. Jiang, J. L. Li, B. Zuo, M. G. Lei, F. E. Li y R. Zheng. "Identification of polymorphisms and association analysis with meat quality traits in the porcine KIAA1717 and HUMMLC2B genes". Livestock Science 106, n.º 1 (enero de 2007): 96–101. http://dx.doi.org/10.1016/j.livsci.2006.07.005.

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Kim, Ju Young, Xin Duan, Cindy Y. Liu, Mi-Hyeon Jang, Junjie U. Guo, Nattapol Pow-anpongkul, Eunchai Kang, Hongjun Song y Guo-li Ming. "DISC1 Regulates New Neuron Development in the Adult Brain via Modulation of AKT-mTOR Signaling through KIAA1212". Neuron 63, n.º 6 (septiembre de 2009): 761–73. http://dx.doi.org/10.1016/j.neuron.2009.08.008.

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37

Shereda, Robert D., Yuka Machida y Yuichi J. Machida. "Human KIAA1018/FAN1 localizes to stalled replication forks via its ubiquitin-binding domain". Cell Cycle 9, n.º 19 (octubre de 2010): 3977–83. http://dx.doi.org/10.4161/cc.9.19.13207.

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Okazaki, Noriko, Shun Ikeda, Reiko Ohara, Kiyo Shimada, Toshihide Yanagawa, Takahiro Nagase, Osamu Ohara y Hisashi Koga. "The Novel Protein Complex with SMARCAD1/KIAA1122 Binds to the Vicinity of TSS". Journal of Molecular Biology 382, n.º 2 (octubre de 2008): 257–65. http://dx.doi.org/10.1016/j.jmb.2008.07.031.

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Kratz, Katja, Barbara Schöpf, Svenja Kaden, Ataman Sendoel, Ralf Eberhard, Claudio Lademann, Elda Cannavó, Alessandro A. Sartori, Michael O. Hengartner y Josef Jiricny. "Deficiency of FANCD2-Associated Nuclease KIAA1018/FAN1 Sensitizes Cells to Interstrand Crosslinking Agents". Cell 142, n.º 1 (julio de 2010): 77–88. http://dx.doi.org/10.1016/j.cell.2010.06.022.

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Hagens, Olivier, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven, Maria Hoeltzenbein, Niels Tommerup et al. "Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation". Human Genetics 118, n.º 5 (26 de octubre de 2005): 578–90. http://dx.doi.org/10.1007/s00439-005-0072-2.

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Yoshikiyo, K., K. Kratz, K. Hirota, K. Nishihara, M. Takata, H. Kurumizaka, S. Horimoto, S. Takeda y J. Jiricny. "KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents". Proceedings of the National Academy of Sciences 107, n.º 50 (29 de noviembre de 2010): 21553–57. http://dx.doi.org/10.1073/pnas.1011081107.

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Brockschmidt, Antje, Detlef Trost, Heike Peterziel, Katrin Zimmermann, Marion Ehrler, Henriette Grassmann, Philipp-Niclas Pfenning et al. "KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas". Brain 135, n.º 4 (16 de marzo de 2012): 1027–41. http://dx.doi.org/10.1093/brain/aws045.

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Abrarova, N. D., E. A. Stoukacheva, V. V. Pleshkan, T. V. Vinogradova y E. D. Sverdlov. "Functional analysis of the HERV-K LTR residing in the KIAA1245/NBPF subfamily genes". Molecular Biology 44, n.º 4 (agosto de 2010): 552–58. http://dx.doi.org/10.1134/s0026893310040084.

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MacKay, Craig, Anne-Cécile Déclais, Cecilia Lundin, Ana Agostinho, Andrew J. Deans, Thomas J. MacArtney, Kay Hofmann et al. "Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2". Cell 142, n.º 1 (julio de 2010): 65–76. http://dx.doi.org/10.1016/j.cell.2010.06.021.

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Sakai, Noriko, Hiromi Terami, Shinobu Suzuki, Megumi Haga, Ken Nomoto, Nobuko Tsuchida, Ken-ichirou Morohashi et al. "Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies". Journal of Endocrinology 198, n.º 3 (25 de junio de 2008): 489–97. http://dx.doi.org/10.1677/joe-08-0027.

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Nuclear receptor subfamily 5, group A, member 1 (NR5A1 previously known as SF-1/AD4BP) is a transcription factor involved in the development of adrenal/gonadal tissues and steroidogenic linage cell differentiation in adult somatic stem cells. To understand the cellular signaling network that regulates NR5A1 gene expression, loss of function screening with an siRNA kinome library, and gain of function screening with an addressable full-length cDNA library representing one quarter of the human genome was carried out. The NR5A1 gene expression was activated in mesenchymal stem cells by siRNA directed against protein kinase C (PKC)-δ, erb-B3, RhoGAP (ARHGAP26), and hexokinase 2, none of which were previously known to be involved in the NR5A1 gene expression. Among these, we identified crosstalk between erb-B3 and PKC-δ signaling cascades. In addition, the gain of function studies indicated that sex-determining region Y (SRY)-box 15 (SOX15), TEA domain family member 4, KIAA1257 (a gene of unknown function), ADAM metallopeptidase with thrombospondin type 1 motif 6, Josephin domain containing 1, centromere protein, TATA box-binding protein-associated factor 5-like RNA polymerase, and inducible T-cell co-stimulator activate NR5A1 gene expression. These results provide new insights into the molecular mechanisms of NR5A1 gene expression.

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Brooks, Alice S., Aida M. Bertoli-Avella, Grzegorz M. Burzynski, Guido J. Breedveld, Jan Osinga, Ludolf G. Boven, Jane A. Hurst et al. "Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems". American Journal of Human Genetics 77, n.º 1 (julio de 2005): 120–26. http://dx.doi.org/10.1086/431244.

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47

Melton, P. E., S. Rutherford, V. S. Voruganti, H. H. H. Goring, S. Laston, K. Haack, A. G. Comuzzie et al. "Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study". Human Molecular Genetics 19, n.º 18 (3 de julio de 2010): 3662–71. http://dx.doi.org/10.1093/hmg/ddq274.

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48

Lin, Jennie, Xuan Zhang, Chenyi Xue, Hanrui Zhang, Michael G. S. Shashaty, Sager J. Gosai, Nuala Meyer et al. "The long noncoding RNA landscape in hypoxic and inflammatory renal epithelial injury". American Journal of Physiology-Renal Physiology 309, n.º 11 (1 de diciembre de 2015): F901—F913. http://dx.doi.org/10.1152/ajprenal.00290.2015.

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Long noncoding RNAs (lncRNAs) are emerging as key species-specific regulators of cellular and disease processes. To identify potential lncRNAs relevant to acute and chronic renal epithelial injury, we performed unbiased whole transcriptome profiling of human proximal tubular epithelial cells (PTECs) in hypoxic and inflammatory conditions. RNA sequencing revealed that the protein-coding and noncoding transcriptomic landscape differed between hypoxia-stimulated and cytokine-stimulated human PTECs. Hypoxia- and inflammation-modulated lncRNAs were prioritized for focused followup according to their degree of induction by these stress stimuli, their expression in human kidney tissue, and whether exposure of human PTECs to plasma of critically ill sepsis patients with acute kidney injury modulated their expression. For three lncRNAs (MIR210HG, linc-ATP13A4-8, and linc-KIAA1737-2) that fulfilled our criteria, we validated their expression patterns, examined their loci for conservation and synteny, and defined their associated epigenetic marks. The lncRNA landscape characterized here provides insights into novel transcriptomic variations in the renal epithelial cell response to hypoxic and inflammatory stress.

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49

Illarionova, A. E., T. V. Vinogradova, P. A. Zhulidov y E. D. Sverdlov. "P6 A new family of KIAA1245 genes with and without the HERV-K LTRs in their introns". European Journal of Cancer Supplements 2, n.º 1 (febrero de 2004): 41. http://dx.doi.org/10.1016/s1359-6349(04)90125-5.

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50

Illarionova, Anna E., Tatyana V. Vinogradova, Pavel A. Zhulidov y Eugeny D. Sverdlov. "P23. A new family of KIAA1245 genes with and without the HERV-K LTRs in their introns". European Journal of Cancer Supplements 4, n.º 6 (junio de 2006): 35. http://dx.doi.org/10.1016/j.ejcsup.2006.04.083.

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