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Bibliografie tematiche / Scl19031

Letteratura scientifica selezionata sul tema "Scl19031"

Autore: Grafiati

Pubblicato: 27 luglio 2024

Ultima modifica: 28 luglio 2024

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Articoli di riviste sul tema "Scl19031"

1

Alfadhel, Majid. "Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review". Journal of Central Nervous System Disease 9 (1 gennaio 2017): 117957351773752. http://dx.doi.org/10.1177/1179573517737521.

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Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

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2

Marques da Costa, Maria Eugénia, Antonin Marchais, Anne Gomez-Brouchet, Bastien Job, Noémie Assoun, Estelle Daudigeos-Dubus, Olivia Fromigué, Conceição Santos, Birgit Geoerger e Nathalie Gaspar. "In-Vitro and In-Vivo Establishment and Characterization of Bioluminescent Orthotopic Chemotherapy-Resistant Human Osteosarcoma Models in NSG Mice". Cancers 11, n. 7 (17 luglio 2019): 997. http://dx.doi.org/10.3390/cancers11070997.

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Osteosarcoma, the most common bone malignancy with a peak incidence at adolescence, had no survival improvement since decades. Persistent problems are chemo-resistance and metastatic spread. We developed in-vitro osteosarcoma models resistant to chemotherapy and in-vivo bioluminescent orthotopic cell-derived-xenografts (CDX). Continuous increasing drug concentration cultures in-vitro resulted in five methotrexate (MTX)-resistant and one doxorubicin (DOXO)-resistant cell lines. Resistance persisted after drug removal except for MG-63. Different resistance mechanisms were identified, affecting drug transport and action mechanisms specific to methotrexate (RFC/SCL19A1 decrease, DHFR up-regulation) for MTX-resistant lines, or a multi-drug phenomenon (PgP up-regulation) for HOS-R/DOXO. Differential analysis of copy number abnormalities (aCGH) and gene expression (RNAseq) revealed changes of several chromosomic regions translated at transcriptomic level depending on drug and cell line, as well as different pathways implicated in invasive and metastatic potential (e.g., Fas, Metalloproteinases) and immunity (enrichment in HLA cluster genes in 6p21.3) in HOS-R/DOXO. Resistant-CDX models (HOS-R/MTX, HOS-R/DOXO and Saos-2-B-R/MTX) injected intratibially into NSG mice behaved as their parental counterpart at primary tumor site; however, they exhibited a slower growth rate and lower metastatic spread, although they retained resistance and CGH main characteristics without drug pressure. These models represent valuable tools to explore resistance mechanisms and new therapies in osteosarcoma.

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3

Tabarki, Brahim, e Majid Alfadhel. "SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review". Neuropediatrics 49, n. 02 (29 settembre 2017): 083–92. http://dx.doi.org/10.1055/s-0037-1607191.

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AbstractThiamine metabolism dysfunction syndrome type 2 is also known by other terms including: “SCL19A3 gene defect,” “biotin-responsive basal ganglia disease” (BBGD), and “biotin-thiamine–responsive basal ganglia disease” (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has primarily been reported in Saudi Arabia (52% of reported cases). It is caused by a defect in thiamine transporter 2 (hTHTR2), which is encoded by the SLC19A3 gene. The clinical presentations of these syndromes are heterogeneous and are likely related to the age of onset. They can be classified into three major categories: classical childhood BBGD; early-infantile Leigh-like syndrome/atypical infantile spasms; and adult Wernicke's-like encephalopathy. These variable phenotypes have common features in that all are triggered by stressors, such as fever, trauma, or vaccinations. Affected brain areas include the basal ganglia, cerebral cortex, thalamus, and periaqueductal regions. Free thiamine is a potential biomarker for diagnosis and monitoring of treatment. Definitive diagnosis is usually made by molecular testing for the SLC19A3 gene defect, and treatment consists of thiamine alone or in combination with biotin for life. In this report, we review all reported cases of the SLC19A3 gene defect, discuss the history, epidemiology, metabolic pathways, clinical phenotypes, biochemical abnormalities, brain pathology, diagnosis, genetic issues, and treatment of this devastating disorder. Finally, we recommend instituting an international registry to further the basic scientific and clinical research to elucidate multiple unanswered questions about SLC19A3 gene syndromes.

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4

Liu, Shuguang, Chao Gao, Ruidong Zhang, Xiaoxi Zhao, Lei Cui, Weijing Li, Huyong Zheng e Zhigang Li. "Germline Genetic Variations in Methotrexate Candidate Genes Are Associated with Pharmacokinetics and Outcome in Pediatric Acute Lymphoblastic Leukemia in China". Blood 128, n. 22 (2 dicembre 2016): 1595. http://dx.doi.org/10.1182/blood.v128.22.1595.1595.

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Abstract BackgroundMethotrexate (MTX) is a key chemotherapeutic agent in the treatment of pediatric acute lymphoblastic leukemia (ALL). Nevertheless, MTX can cause severe adverse effects and toxicities. The aim of the present study was to identify genetic polymorphisms in candidate genes of the MTX pathway associated with MTX pharmacokinetics, toxicity, and outcome in ALL in China. MethodsThree hundred and twenty-two Chinese children with ALL in the standard-risk and medium-risk treatment branches from the Beijing Children's Hospital-2003 and Chinese Childhood Leukemia Group-2008 protocols were enrolled in this study. Sequenom MassARRAY was used to genotype 12 single nucleotide polymorphisms (SNPs) in 4 candidate genes of the MTX/folate pathway. A total of 1268 high-dose MTX (HD-MTX) courses were analyzed. The plasma MTX levels were evaluated at 48 h after the first dose of HD-MTX infusion. Oral mucositis during the consolidation therapy period was recorded. Results No polymorphism was associated with clinical features, prednisone response, and minimal residual disease (MRD) at day 33 and 78. Long-term outcome was better in SLCO1B1 rs4149056 T and TC allele carriers than patients with C allele (5-year RFS 92.3±1.6% vs. 27.8±23.2%,P<0.0001), in ABCB1 rs1128503 T and TC allele carriers than patients with C allele (92.7±1.6% vs. 78.2±6.9%, P=0.020), and in SCL19A1 rs2838958 AG and G allele carries than patients with A allele (93.9±1.6% vs. 83.0±4.2%, P =0.010). Multiple Cox regression analyses revealed an association of MRD at day 33 (hazard ratio 3.356; P=0.018), MRD at day 78 (hazard ratio 2.843; P=0.034), and SLCO1B1 rs4149056 (hazard ratio 8.073; P=0.002) with RFS in the study population. As to MTX pharmacokinetics, ABCB1 rs1128503 showed a significant association with serum MTX levels (P=0.004). SNPs (rs3788200, rs1131596, rs1051266) of the SLC19A1 gene were also associated with the plasma levels of MTX (P=0.003, 0.004, and 0.003, respectively). No association was found between oral mucositis with any polymorphism. Conclusions Genetic variations substantially influence the kinetics and response to HD-MTX therapy in childhood ALL. Disclosures No relevant conflicts of interest to declare.

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5

Freitas, Leonardo Furtado, Eduardo Carvalho Miranda, Thelma Ribeiro Noce, Aline Pimentel Amaro e Márcio Luís Duarte. "SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease". Arquivos de Neuro-Psiquiatria, 13 ottobre 2023. http://dx.doi.org/10.1055/s-0043-1772606.

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6

Escudero-Ferruz, Paula, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres e José M. López. "A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts". Molecular Medicine 30, n. 1 (3 gennaio 2024). http://dx.doi.org/10.1186/s10020-023-00774-8.

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Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this deficiency, there is an acceleration of the de novo purine biosynthetic pathway. Most studies have failed to find any consistent abnormalities of purine nucleotides in cultured cells obtained from the patients. Recently, it has been shown that 5-aminoimidazole-4-carboxamide riboside 5ʹ-monophosphate (ZMP), an intermediate of the de novo pathway, accumulates in LND fibroblasts maintained with RPMI containing physiological levels (25 nM) of folic acid (FA), which strongly differs from FA levels of regular cell culture media (2200 nM). However, RPMI and other standard media contain non-physiological levels of many nutrients, having a great impact in cell metabolism that does not precisely recapitulate the in vivo behavior of cells. Methods We prepared a new culture medium containing physiological levels of all nutrients, including vitamins (Plasmax-PV), to study the potential alterations of LND fibroblasts that may have been masked by the usage of non-physiological media. We quantified ZMP accumulation under different culture conditions and evaluated the activity of two known ZMP-target proteins (AMPK and ADSL), the mRNA expression of the folate carrier SLC19A1, possible mitochondrial alterations and functional consequences in LND fibroblasts. Results LND fibroblasts maintained with Plasmax-PV show metabolic adaptations such a higher glycolytic capacity, increased expression of the folate carrier SCL19A1, and functional alterations such a decreased mitochondrial potential and reduced cell migration compared to controls. These alterations can be reverted with high levels of folic acid, suggesting that folic acid supplements might be a potential treatment for LND. Conclusions A complete physiological cell culture medium reveals new alterations in Lesch-Nyhan disease. This work emphasizes the importance of using physiological cell culture conditions when studying a metabolic disorder.

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7

Alowaysi, Maryam, Moayad Baadhaim, Mohammad Al-Shehri, Hajar Alzahrani, Amani Badkok, Hanouf Attas, Samer Zakri et al. "Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene". Human Cell, 9 luglio 2024. http://dx.doi.org/10.1007/s13577-024-01097-4.

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AbstractThe neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic pathogenic mutations in the SLC19A3 gene. BTBGD is characterized by progressive encephalopathy, confusion, seizures, dysarthria, dystonia, and severe disabilities. Diagnosis is difficult due to the disease’s rare nature and diverse clinical characteristics. The primary treatment for BTBGD at this time is thiamine and biotin supplementation, while its long-term effectiveness is still being investigated. In this study, we have generated two clones of induced pluripotent stem cells (iPSCs) from a 10-year-old female BTBGD patient carrying a homozygous mutation for the pathogenic variant in exon 5 of the SLC19A3 gene, c.1264A > G (p.Thr422Ala). We have confirmed the pluripotency of the generated iPS lines and successfully differentiated them to neural progenitors. Because our understanding of genotype–phenotype correlations in BTBGD is limited, the establishment of BTBGD-iPSC lines with a homozygous SLC19A3 mutation provides a valuable cellular model to explore the molecular mechanisms underlying SLC19A3-associated cellular dysfunction. This model holds potential for advancing the development of novel therapeutic strategies.

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Libri sul tema "Scl19031"

1

J, Alloway Brian, Kröpfelová Lenka, Trevors Jack T. 1953- e SpringerLink (Online service), a cura di. Wastewater Treatment in Constructed Wetlands with Horizontal Sub-Surface Flow. Dordrecht: Springer Science + Business Media B.V, 2008.

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2

Mancuso, Stefano. Measuring roots: An updated approach. Heidelberg: Springer, 2012.

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3

J, Pebesma Edzer, e Gómez-Rubio Virgilio, a cura di. Applied spatial data analysis with R. New York: Springer, 2008.

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4

Landscape Ecology in Theory and Practice: Pattern and Process. Springer, 2001.

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5

Landscape Ecology in Theory and Practice: Pattern and Process. Springer London, Limited, 2007.

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6

Landscape Ecology in Theory and Practice: Pattern and Process. Springer, 2016.

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7

Mesophotic Coral Ecosystems. Springer Nature, 2019.

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8

Agroecology. Springer London, Limited, 2013.

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9

Agroecology. Springer, 2013.

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10

Edible Medicinal And Non-Medicinal Plants: Volume 5, Fruits. Springer, 2013.

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