Top3a gene
Web17. jún 2024 · A tag already exists with the provided branch name. Many Git commands accept both tag and branch names, so creating this branch may cause unexpected behavior. Web24. júl 2024 · Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2024 on behalf of the GMS Mitochondrial specialist test group. Gene …
Top3a gene
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WebAffected patients present with a common set of phenotypes, which are caused by both the nuclear and mitochondrial function of the TOP3A enzyme. We compared the effects of these mutations with mutations in the TOP3A gene, previously shown to cause Bloom syndrome, a genetic disease characterized by short stature and predisposition to cancer. Web1. aug 2024 · ミトコンドリアdnaの複製に関与するtop3a. 研究グループは、低出生体重、成長障害、拡張型心筋症を呈した千葉県内の症例に対して包括的遺伝子解析を行い、新しい病因遺伝子としてtop3a遺伝子を同定。同様の症状を呈しtop3a遺伝子異常を認めた症例は、 …
WebThe TOP3A gene encodes topoisomerase III alpha (TOP3A), which exists in a nuclear and mitochondrial isoform, 1 with a key role in promoting the dissolution of double Holliday … Webby Gene › by Protein › TOP3A Antibodies; TOP3A Antibodies . Antibodies that detect TOP3A can be used in several scientific applications, including Western Blot, …
WebDB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number … Webwikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global …
WebTOP3A. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. …
Web3. aug 2024 · Gain/amplification of TOP3A gene region (17p11) is a genomic signature of ATRX-wt osteosarcomas. For each ATRX-mutated (top part) and ATRX-wt (bottom part) … famous pawnbrokers martinsburg wvWebtop3a-2 plants grew properly without fasciated organs and were as fertile as the wild-type (Figure 2B). This analysis demonstrates that the phenotypes are indeed caused by the two … cops on the wireWebSequence variants and/or copy number variants (deletions/duplications) within the TOP3A gene will be detected with >99% sensitivity. Variants classified as unknown significance … famous paul harris fellowsWebTOP3A (17p11.2) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.43) 166: ... Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1: NIPA1 (15q11.2) Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3) 399: famous pawnbrokers frederick mdWebFigure 3 shows the anti-apoptotic pathway of GA in cancers. p53 is a crucial tumor suppressor gene mutated in most human cancers, which correlates with ... DUSP1, DUSP5, GADD45B, TOP2A, TOP2B, TOP3A and ALDOA in pancreatic cancer. 8 GA could also enhance epidermal growth factor receptor (EGFR) degradation and inhibit AKT/mTOR … cops on the takeWebTOP3A Antibodies. Antibodies that detect TOP3A can be used in several scientific applications, including Western Blot, Immunocytochemistry, Immunohistochemistry and … famous pawnbrokers wheatonWebTOP3A BLM POLD1 POLE GEN1 ATR PALB2 BRCA2 BRCA1BARD1 PTEN RAD51 TP53 RAD52 RAD51C XRCC3 RAD51C RAD51B RAD51D XRCC2 NBN MRE11 RAD50 ATM ABRAXAS1 TP53BP1 PRKDC NBN MRE11 ... gene-level deletions or duplications Substitutions, insertions, deletions, and large . genomic rearrangements including exon … famous paul walker quotes