Artykuły w czasopismach na temat „Risk variants”
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Han, Shengtong. "Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes". Journal of Personalized Medicine 14, nr 8 (2.08.2024): 822. http://dx.doi.org/10.3390/jpm14080822.
Pełny tekst źródłaShah, Shrijal S., Herbert Lannon, Leny Dias, Jia-Yue Zhang, Seth L. Alper, Martin R. Pollak i David J. Friedman. "APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore". Journal of the American Society of Nephrology 30, nr 12 (26.09.2019): 2355–68. http://dx.doi.org/10.1681/asn.2019020114.
Pełny tekst źródłaBayley, Jean Pierre, Birke Bausch, Johannes Adriaan Rijken, Leonie Theresia van Hulsteijn, Jeroen C. Jansen, David Ascher, Douglas Eduardo Valente Pires i in. "Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma". Journal of Medical Genetics 57, nr 2 (6.09.2019): 96–103. http://dx.doi.org/10.1136/jmedgenet-2019-106214.
Pełny tekst źródłaPark, Jihye, Soo Youn Lee, Su Youn Baik, Chan Hee Park, Jun Hee Yoon, Brian Y. Ryu i Ju Han Kim. "Gene-Wise Burden of Coding Variants Correlates to Noncoding Pharmacogenetic Risk Variants". International Journal of Molecular Sciences 21, nr 9 (27.04.2020): 3091. http://dx.doi.org/10.3390/ijms21093091.
Pełny tekst źródłaBarbirou, Mouadh, Amanda A. Miller, Amel Mezlini, Balkiss Bouhaouala-Zahar i Peter J. Tonellato. "Variant Characterization of a Representative Large Pedigree Suggests “Variant Risk Clusters” Convey Varying Predisposition of Risk to Lynch Syndrome". Cancers 15, nr 16 (12.08.2023): 4074. http://dx.doi.org/10.3390/cancers15164074.
Pełny tekst źródłaCannon-Albright, Lisa Anne, Craig Carl Teerlink, Jeff Stevens, Franklin W. Huang, Csilla Sipeky, Johanna Schleutker, Rolando Hernandez, Julio Facelli, Neeraj Agarwal i Donald L. Trump. "A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree". Cancers 13, nr 10 (15.05.2021): 2399. http://dx.doi.org/10.3390/cancers13102399.
Pełny tekst źródłaBoddicker, Nicholas J., Raphael Mwangi, Dennis P. Robinson, Allison C. Rosenthal, Thomas M. Habermann, Andrew L. Feldman, Lisa M. Rimsza i in. "Abstract 5233: Germline CHEK2 variants and risk of lymphoma". Cancer Research 83, nr 7_Supplement (4.04.2023): 5233. http://dx.doi.org/10.1158/1538-7445.am2023-5233.
Pełny tekst źródłaAment, Seth A., Szabolcs Szelinger, Gustavo Glusman, Justin Ashworth, Liping Hou, Nirmala Akula, Tatyana Shekhtman i in. "Rare variants in neuronal excitability genes influence risk for bipolar disorder". Proceedings of the National Academy of Sciences 112, nr 11 (17.02.2015): 3576–81. http://dx.doi.org/10.1073/pnas.1424958112.
Pełny tekst źródłaTu, J. J., L. Kuhn, L. Denny, K. J. Beattie, A. Lorincz i T. C. Wright. "Molecular variants of human papillomavirus type 16 and risk for cervical neoplasia in South Africa". International Journal of Gynecologic Cancer 16, nr 2 (marzec 2006): 736–42. http://dx.doi.org/10.1136/ijgc-00009577-200603000-00043.
Pełny tekst źródłaVogan, Kyle. "Bladder exstrophy risk variants". Nature Genetics 47, nr 5 (28.04.2015): 429. http://dx.doi.org/10.1038/ng.3298.
Pełny tekst źródłaIwaki, Hirotaka, Cornelis Blauwendraat, Hampton L. Leonard, Ganqiang Liu, Jodi Maple-Grødem, Jean-Christophe Corvol, Lasse Pihlstrøm i in. "Genetic risk of Parkinson disease and progression:". Neurology Genetics 5, nr 4 (9.07.2019): e348. http://dx.doi.org/10.1212/nxg.0000000000000348.
Pełny tekst źródłaVargas-Neri, Jessica L., Bruce Carleton, Colin J. Ross, Mara Medeiros, Gilberto Castañeda-Hernández i Patricia Clark. "Pharmacogenomic study of anthracycline-induced cardiotoxicity in Mexican pediatric patients". Pharmacogenomics 23, nr 5 (kwiecień 2022): 291–301. http://dx.doi.org/10.2217/pgs-2021-0144.
Pełny tekst źródłaGibson, Summer B., Jonathan M. Downie, Spyridoula Tsetsou, Julie E. Feusier, Karla P. Figueroa, Mark B. Bromberg, Lynn B. Jorde i Stefan M. Pulst. "The evolving genetic risk for sporadic ALS". Neurology 89, nr 3 (22.06.2017): 226–33. http://dx.doi.org/10.1212/wnl.0000000000004109.
Pełny tekst źródłaReková, Petra, Gabriela Dostálová, David Kemlink, Jaroslava Paulasová Schwabová, Zora Dubská, Manuela Vaneckova, Martin Mašek i in. "Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic". Journal of Clinical Medicine 10, nr 16 (12.08.2021): 3543. http://dx.doi.org/10.3390/jcm10163543.
Pełny tekst źródłaNomura, Akihiro, Connor A. Emdin, Hong Hee Won, Gina M. Peloso, Pradeep Natarajan, Diego Ardissino, John Danesh i in. "Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease". Circulation: Genomic and Precision Medicine 13, nr 5 (październik 2020): 417–23. http://dx.doi.org/10.1161/circgen.119.002871.
Pełny tekst źródłaKent, Jason, i Michael C. Heinrich. "Novel models for the functional characterization of SDHA germline variants to predict cancer risk." Journal of Clinical Oncology 42, nr 16_suppl (1.06.2024): 11532. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.11532.
Pełny tekst źródłaAsanomi, Yuya, Daichi Shigemizu, Shintaro Akiyama, Akinori Miyashita, Risa Mitsumori, Norikazu Hara, Takeshi Ikeuchi, Shumpei Niida i Kouichi Ozaki. "A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease". Journal of Human Genetics 67, nr 4 (5.11.2021): 203–8. http://dx.doi.org/10.1038/s10038-021-00987-x.
Pełny tekst źródłaCannon-Albright, Lisa A., Jeff Stevens, Julio C. Facelli, Craig C. Teerlink, Kristina Allen-Brady i Neeraj Agarwal. "High-Risk Pedigree Study Identifies LRBA (rs62346982) as a Likely Predisposition Variant for Prostate Cancer". Cancers 15, nr 7 (31.03.2023): 2085. http://dx.doi.org/10.3390/cancers15072085.
Pełny tekst źródłaDurward-Akhurst, Sian, Joy Stock, Freya Stein, Christopher Stauthammer i Samuel Dudley. "451 Identification of candidate sudden arrhythmic death -causing variants in a spontaneous animal model". Journal of Clinical and Translational Science 8, s1 (kwiecień 2024): 134. http://dx.doi.org/10.1017/cts.2024.386.
Pełny tekst źródłaWickland, Daniel P., Yingxue Ren, Jason P. Sinnwell, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Minerva M. Carrasquillo i in. "Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies". PLOS ONE 16, nr 4 (16.04.2021): e0249305. http://dx.doi.org/10.1371/journal.pone.0249305.
Pełny tekst źródłaOliverio, Andreina, Eleonora Bruno, Mara Colombo, Angelo Paradiso, Stefania Tommasi, Antonella Daniele, Daniela Andreina Terribile i in. "BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers". Cancers 12, nr 12 (30.11.2020): 3584. http://dx.doi.org/10.3390/cancers12123584.
Pełny tekst źródłaBobbili, Dheeraj Reddy, Peter Banda, Rejko Krüger i Patrick May. "Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk". Journal of Medical Genetics 57, nr 9 (13.02.2020): 617–23. http://dx.doi.org/10.1136/jmedgenet-2019-106316.
Pełny tekst źródłaKarantanos, Theodoros, Shruti Chaturvedi, Christopher D. Gocke, Donna Marie Williams, Alison R. Moliterno i Evan M. Braunstein. "ATM Germline Variant Increases the Risk of MPN Progression". Blood 134, Supplement_1 (13.11.2019): 835. http://dx.doi.org/10.1182/blood-2019-125362.
Pełny tekst źródłaArning, Astrid, Astrid Jeibmann, Stephan Köhnemann, Benjamin Brokinkel, Christian Ewelt, Klaus Berger, Jürgen Wellmann i in. "ADAMTS genes and the risk of cerebral aneurysm". Journal of Neurosurgery 125, nr 2 (sierpień 2016): 269–74. http://dx.doi.org/10.3171/2015.7.jns154.
Pełny tekst źródłaLi, Qingqin S., Chao Tian, David Hinds i Guy R. Seabrook. "The association of clinical phenotypes to known AD/FTD genetic risk loci and their inter-relationship". PLOS ONE 15, nr 11 (5.11.2020): e0241552. http://dx.doi.org/10.1371/journal.pone.0241552.
Pełny tekst źródłaPramukarso, Dodik Tugasworo, Herlina Suryawati, Soetedjo Soetedjo, Jimmy Eko Budi Hartono, Trianggoro Budisulistyo, Arinta Puspita Wati, Aditya Kurnianto i Patria Adri Wibhawa. "The Association Between Variants of Angiotensin Converting Enzyme (ACE) Gene With Risk Factors in Patients with Ischemic Stroke at Dr. Kariadi Semarang". Medica Hospitalia : Journal of Clinical Medicine 8, nr 3 (5.11.2021): 297–303. http://dx.doi.org/10.36408/mhjcm.v8i3.565.
Pełny tekst źródłaKrohn, Lynne, Jennifer A. Ruskey, Uladzislau Rudakou, Etienne Leveille, Farnaz Asayesh, Michele T. M. Hu, Isabelle Arnulf i in. "GBA variants in REM sleep behavior disorder". Neurology 95, nr 8 (26.06.2020): e1008-e1016. http://dx.doi.org/10.1212/wnl.0000000000010042.
Pełny tekst źródłaWaller, Rosalie G., Karen Curtin, Djordje Atanackovic, Guido J. Tricot, Steven M. Lipkin i Nicola J. Camp. "Exome Sequencing in Myeloma Pedigrees Implicates RAS1 and NOTCH Signaling Are Involved in Inherited Myeloma Risk". Blood 126, nr 23 (3.12.2015): 2976. http://dx.doi.org/10.1182/blood.v126.23.2976.2976.
Pełny tekst źródłaNurmi, Anna K., Maija Suvanto, Joe Dennis, Kristiina Aittomäki, Carl Blomqvist i Heli Nevanlinna. "Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients". Cancers 14, nr 24 (14.12.2022): 6158. http://dx.doi.org/10.3390/cancers14246158.
Pełny tekst źródłaSoufir, N., L. Bagait Miss, C. Oudin Miss, P. Wolkenstein, V. Descamps, N. Dupin, C. Lebbé, N. Basset-Seguin, P. Saiag i B. Grandchamp. "MC1R variants and melanoma risk: First study on Melan-Cohort". Journal of Clinical Oncology 25, nr 18_suppl (20.06.2007): 10524. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.10524.
Pełny tekst źródłaAcharya, Ratna, i Kiran Upadhyay. "Early recurrence of focal segmental glomerulosclerosis in a kidney transplant recipient withAPOL1one risk variant". BMJ Case Reports 16, nr 5 (maj 2023): e254593. http://dx.doi.org/10.1136/bcr-2023-254593.
Pełny tekst źródłaVeyrat-Durebex, Charlotte, Nathalie Bouzamondo, Morgane Le Mao, Juan Manuel Chao de la Barca, Céline Bris, Xavier Dieu, Gilles Simard i in. "Metabolomics signatures of a subset of RET variants according to their oncogenic risk level". Endocrine-Related Cancer 26, nr 3 (marzec 2019): 379–89. http://dx.doi.org/10.1530/erc-18-0314.
Pełny tekst źródłaNguyen-Dumont, Tú, James G. Dowty, Jason A. Steen, Anne-Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys i in. "Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry". Cancers 13, nr 6 (18.03.2021): 1378. http://dx.doi.org/10.3390/cancers13061378.
Pełny tekst źródłaFoley, Georgea R., James R. Marthick, Sionne E. Lucas, Kelsie Raspin, Annette Banks, Janet L. Stanford, Elaine A. Ostrander, Liesel M. FitzGerald i Joanne L. Dickinson. "Germline Sequencing of DNA Damage Repair Genes in Two Hereditary Prostate Cancer Cohorts Reveals New Disease Risk-Associated Gene Variants". Cancers 16, nr 13 (7.07.2024): 2482. http://dx.doi.org/10.3390/cancers16132482.
Pełny tekst źródłaOlabisi, Opeyemi A., Jia-Yue Zhang, Lynn VerPlank, Nathan Zahler, Salvatore DiBartolo, John F. Heneghan, Johannes S. Schlöndorff i in. "APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases". Proceedings of the National Academy of Sciences 113, nr 4 (23.12.2015): 830–37. http://dx.doi.org/10.1073/pnas.1522913113.
Pełny tekst źródłaZenteno, Juan C., Oscar F. Chacón-Camacho, Vianey Ordoñez-Labastida, Antonio Miranda-Duarte, Camila Del Castillo, Jessica Nava, Fatima Mendoza, Luis Montes-Almanza, Germán Mora-Roldán i Karlen Gazarian. "Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes". BioMed Research International 2024 (13.01.2024): 1–8. http://dx.doi.org/10.1155/2024/2052766.
Pełny tekst źródłaHawkins, Gregory A., David J. Friedman, Lingyi Lu, David R. McWilliams, Jeff W. Chou, Satria Sajuthi, Jasmin Divers i in. "Re-Sequencing of the APOL1-APOL4 and MYH9 Gene Regions in African Americans Does Not Identify Additional Risks for CKD Progression". American Journal of Nephrology 42, nr 2 (2015): 99–106. http://dx.doi.org/10.1159/000439448.
Pełny tekst źródłaReilly, Christopher R., Mikko Myllymäki, Robert Redd, Shilpa Padmanaban, Druha Karunakaran, Valerie Tesmer, Frederick D. Tsai i in. "The clinical and functional effects of TERT variants in myelodysplastic syndrome". Blood 138, nr 10 (21.05.2021): 898–911. http://dx.doi.org/10.1182/blood.2021011075.
Pełny tekst źródłaZavaleta, Elizabeth, Nelly Solis, Maria Isabel Palacios, Liz Elva Zevallos-Escobar, Edison Vasquez Corales, Juan Carlos Bazo-Alvarez, Constantino Dominguez-Barrera i in. "Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru". Cancers 14, nr 22 (15.11.2022): 5603. http://dx.doi.org/10.3390/cancers14225603.
Pełny tekst źródłaTrottier, Amy M., Lawrence J. Druhan, Ira L. Kraft, Amanda Lance, Simone Feurstein, Maria Helgeson, Jeremy P. Segal, Soma Das, Belinda R. Avalos i Lucy A. Godley. "Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies". Blood Advances 4, nr 20 (27.10.2020): 5269–84. http://dx.doi.org/10.1182/bloodadvances.2020002013.
Pełny tekst źródłaHostetler, Ellen M., Ellen S. Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño-Mosquera, Bert Louis Callewaert i in. "SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium". Journal of Medical Genetics 56, nr 4 (19.01.2019): 252–60. http://dx.doi.org/10.1136/jmedgenet-2018-105583.
Pełny tekst źródłaBryant, Nicole, Nicole Malpeli, Julia Ziaee, Cornelis Blauwendraat, Zhiyong Liu i Andrew B. West. "Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson’s disease cohort". Human Molecular Genetics 30, nr 6 (27.02.2021): 454–66. http://dx.doi.org/10.1093/hmg/ddab058.
Pełny tekst źródłaOzarkar, Snehal, Adelle McFarland i Ram Savan. "Functional characterization of IRF5 exon 6 variants in SLE risk". Journal of Immunology 198, nr 1_Supplement (1.05.2017): 207.22. http://dx.doi.org/10.4049/jimmunol.198.supp.207.22.
Pełny tekst źródłaRice, Terri, Daniel H. Lachance, Annette M. Molinaro, Jeanette E. Eckel-Passow, Kyle M. Walsh, Jill Barnholtz-Sloan, Quinn T. Ostrom i in. "Understanding inherited genetic risk of adult glioma – a review". Neuro-Oncology Practice 3, nr 1 (25.08.2015): 10–16. http://dx.doi.org/10.1093/nop/npv026.
Pełny tekst źródłaCieślak, Adrianna, Grzegorz Galita, Michał Mik, Łukasz Dziki, Adam Dziki, Igor Sokołowski, Tomasz Popławski i Ireneusz Majsterek. "Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population". Polish Journal of Surgery 93, SUPLEMENT (17.11.2021): 40–45. http://dx.doi.org/10.5604/01.3001.0015.5164.
Pełny tekst źródłaAI-Ghalayini, Kamal W., Mohammed A. Salama, Hadia Bassam Al Mahdi, Sameer Al-Harthi, Wesam A. Alhejily, Mirvat A. Alasnag, Noura O. Tasbhji, Diana A. H. Al-Quwaie, Panos Deloukas i Sherif Edris. "Identification of Genetic Variants Associated With Myocardial Infarction in Saudi Arabia". Heart Surgery Forum 23, nr 4 (23.07.2020): E517—E523. http://dx.doi.org/10.1532/hsf.2955.
Pełny tekst źródłaFrank, Bernd, Peter Meyer, Melanie Barbara Boettger, Kari Hemminki, Henrike Stapelmann, Andreas Gast, Christina Schmitt, Rajiv Kumar, Consolato Sergi i Barbara Burwinkel. "ARLTS1 variants and melanoma risk". International Journal of Cancer 119, nr 7 (2006): 1736–37. http://dx.doi.org/10.1002/ijc.22008.
Pełny tekst źródłaReiner, Anne S., Mark E. Robson, Lene Mellemkjær, Marc Tischkowitz, Esther M. John, Charles F. Lynch, Jennifer D. Brooks i in. "Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer". JNCI: Journal of the National Cancer Institute 112, nr 12 (2.03.2020): 1275–79. http://dx.doi.org/10.1093/jnci/djaa031.
Pełny tekst źródłaZhou, Xiaopu, Yu Chen, Kin Y. Mok, Qianhua Zhao, Keliang Chen, Yuewen Chen, John Hardy i in. "Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis". Proceedings of the National Academy of Sciences 115, nr 8 (5.02.2018): 1697–706. http://dx.doi.org/10.1073/pnas.1715554115.
Pełny tekst źródłaLiyanarachchi, Sandya, Julius Gudmundsson, Egil Ferkingstad, Huiling He, Jon G. Jonasson, Vinicius Tragante, Folkert W. Asselbergs i in. "Assessing thyroid cancer risk using polygenic risk scores". Proceedings of the National Academy of Sciences 117, nr 11 (4.03.2020): 5997–6002. http://dx.doi.org/10.1073/pnas.1919976117.
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