نتایج جستجو برای: polg gene
تعداد نتایج: 1141492 فیلتر نتایج به سال:
A common goal in the discovery of rare functional DNA variants via medical resequencing is to incur a relatively lower proportion of false positive base-calls. We developed a novel statistical method for resequencing arrays (SRMA, sequence robust multi-array analysis) to increase the accuracy of detecting rare variants and reduce the costs in subsequent sequence verifications required in medica...
DISEASE MUTATIONS IN THE HUMAN MITOCHONDRIAL DNA POLYMERASE THUMB SUBDOMAIN IMPART SEVERE DEFECTS IN MtDNA REPLICATION Rajesh Kasiviswanathan, Matthew J. Longley, Sherine S. L. Chan, and William C. Copeland* From the Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709 Running Title: Mitochondrial ...
Next-generation sequencing is revolutionizing identification of novel disease genes and patient diagnosis. Ribonuclease H1 (RNASEH1) digests the RNA present in RNA:DNA hybrids and is present in the nucleus and mitochondria. Bugiardini et al. screened genomic DNAs from 74 probands with multiple deletions/depletion in muscle mtDNA and mendelian progressive external ophthalmoplegia (PEO). They ide...
Mammalian mitochondrial DNA (mtDNA) is replicated by the heterotrimeric Pol γ comprised of a single catalytic subunit, encoded by Polg, and a homodimeric accessory subunit encoded by the Polg2 gene. While the catalytic subunit has been shown to be essential for embryo development, genetic data regarding the accessory subunit are lacking in mammalian systems. Here, we describe the generation of ...
BACKGROUND Mitochondrial DNA depletion syndrome is an autosomal recessive disorder characterized by decreased mitochondrial DNA copy numbers in affected tissues. It has been linked to 4 genes involved in deoxyribonucleotide triphosphate metabolism: thymidine kinase 2 (TK2), deoxyguanosine kinase (DGUOK), polymerase gamma (POLG), and SUCLA2, the gene encoding the beta-subunit of the adenosine di...
مطالعات انجام شده روی مکانیسمهای تکوینی و تکاملی گلبولهای قرمز منجر به دستیابی بشر به مفاهیم پایه و مهمی در ارتباط با مکانیسمهای عمومی تنظیم بیان ژن وشکل گیری بافتها شده است. تمایز اختصاصی به رده ارتیروئید و هر رده دیگری، شدیداً وابسته به تنظیم در سطح بیان ژن و فاکتورهای کنترلی خاص نظیر سیتوکین ها، فاکتورهای نسخه برداری ویژه، عناصر کنترل کننده چرخه سلولی، تکثیر،آپوپتوز و عناصر سیگنالینگ داخل سلو...
The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS...
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