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733 Possible Causes for ARG853TRP, POLG

Show results in: Română

  • Endocrine Dysfunction

    POLG mutations and age at menopause . Hum. Reprod. 27 , 2243–2244 (2012). 91. Tong, Z. B. et al .[nature.com] The unfolding clinical spectrum of POLG mutations . J. Med. Genet. 46 , 776–785 (2009). 86. Kalkan, I. H. et al .[nature.com] Biochemical analysis of the G517V POLG variant reveals wild-type like activity . Mitochondrion 11 , 929–934 (2011). 121. Nicolino, M. et al .[nature.com]

    Missing: ARG853TRP
  • Alpers Syndrome

    We have identified POLG mutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for AHS.[ncbi.nlm.nih.gov] Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.[ncbi.nlm.nih.gov] It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity[ncbi.nlm.nih.gov]

    Missing: ARG853TRP
  • Mitochondrial Neurogastrointestinal Encephalomyopathy Type 4B

    […] depletion seen in other POLG -related disorders.[ghr.nlm.nih.gov] A review of POLG-related disorders can be found here .[snpedia.com] Test Catalog POLG Alias MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE Associated disorders The POLG gene is associated with a spectrum of related autosomal[invitae.com]

    Missing: ARG853TRP
  • Autosomal Recessive Progressive External Ophthalmoplegia

    […] with mitochondrial deletions autosomal recessive (POLG) Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive (POLG) genetic dna test for[dnalabsindia.com] 分子構造 ヒトのmtDNAの複製酵素POLGは、POLG (POLG1)遺伝子にコードされた140 kDaのcatalytic subunit:p140と、POLG2遺伝子にコードされた55 kDaのaccessory subunit:p55によるヘテロダイマーとして存在する(Ref.6, 7)。[tmig.or.jp] […] gene Progressive External Ophthalmoplegia with Mitochondrial DNA Dele Alpers-Huttenlocher Syndrome POLG-Related Disorders POLG-Related Sensory Ataxic Neuropathy, Dysarthria[evidence.pgp-hms.org]

    Missing: ARG853TRP
  • Mitochondrial DNA Depletion Syndrome

    Onset of the POLG -related disorders ranges from infancy to late adulthood.[ncbi.nlm.nih.gov] POLG is the only DNA polymerase responsible for mtDNA replication.[dx.doi.org] DIAGNOSIS/TESTING: Establishing the diagnosis of a POLG -related disorder relies on clinical findings and identification of biallelic POLG pathogenic variants for all phenotypes[ncbi.nlm.nih.gov]

    Missing: ARG853TRP
  • Sensory Ataxic Neuropathy - Dysarthria - Ophthalmoparesis Syndrome

    Gene Symbol POLG ID HGNC:9179 Protein Name polymerase (DNA directed), gamma Other Names DNA polymerase subunit gamma-1, PolG-alpha, mitochondrial DNA polymerase catalytic[s3-us-west-2.amazonaws.com] Test Catalog POLG Alias MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE Associated disorders The POLG gene is associated with a spectrum of related autosomal[invitae.com] - Related Disorder 0 0 0 0 0 1 1 POLG- Related Disorders 0 0 0 0 0 1 1 POLG-Related Disorders 0 0 0 0 0 1 1 POLG-related condition 1 0 0 0 0 0 1 Plagiocephaly; Global developmental[clinvarminer.genetics.utah.edu]

    Missing: ARG853TRP
  • Autosomal Dominant Progressive External Ophthalmoplegia

    Title : Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients Language[orbilu.uni.lu] 分子構造 ヒトのmtDNAの複製酵素POLGは、POLG (POLG1)遺伝子にコードされた140 kDaのcatalytic subunit:p140と、POLG2遺伝子にコードされた55 kDaのaccessory subunit:p55によるヘテロダイマーとして存在する(Ref.6, 7)。[tmig.or.jp] Approximately 45% of cases of adPEO are based on mutations in the POLG gene.[labor-lademannbogen.de]

    Missing: ARG853TRP
  • Autosomal Dominant Progressive External Ophthalmoplegia Type 3

    分子構造 ヒトのmtDNAの複製酵素POLGは、POLG (POLG1)遺伝子にコードされた140 kDaのcatalytic subunit:p140と、POLG2遺伝子にコードされた55 kDaのaccessory subunit:p55によるヘテロダイマーとして存在する(Ref.6, 7)。[tmig.or.jp] Radiographic features of POLG-related disorders are not well-described beyond case series-level evidence whereby neuroimaging features of POLG-related disorders featuring[radiopaedia.org] POLG is the only DNA polymerase responsible for mtDNA replication.[nature.com]

    Missing: ARG853TRP
  • Mitochondrial DNA Depletion Syndrome 3 Type Hepatocerebral

    (POLG, DGUOK, MPV17, TWINKLE).[mendelian.co] POLG mutations cause a broad spectrum of diseases, and mutations can cause multiple mtDNA deletions.[clinchem.aaccjnls.org] There exist three main subtypes: infantile (onset iii) POLG The POLG gene lies on chromosome 15q24 and encodes POL γ, the only DNA polymerase responsible for mtDNA replication[ijponline.biomedcentral.com]

    Missing: ARG853TRP
  • Mitochondrial DNA Depletion Syndrome Type 1

    Pathways associated with POLG elisa kit Diseases associated with POLG elisa kit Organs/Tissues associated with POLG elisa kit[mybiosource.com] […] genetic alterations either in the mitochondrial DNA (such as the MT-TL1 or MT-TK genes with the m.3243A G MELAS'' mutation or the m.8313G A MERRF'' mutation) or in the nuclear POLG[orpha.net] […] to detect POLG antigen targets in samples.[mybiosource.com]

    Missing: ARG853TRP

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