WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
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DOI: 10.1002/humu.23128
Abstract: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene,… read more here.
Keywords: spectrum patient; wrn mutation; mutation update; update mutation ... See more keywords
Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature
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DOI: 10.1002/humu.23612
Abstract: The authors have realized that a typographic error occurred in Table 1 in the description of sequence variants usingHGVSnomenclature, compared to the original manuscript. Indeed, in the columns “nucleotide change” and “amino-acid change”, a superscript… read more here.
Keywords: gene involved; gpc3 gene; mutation update; update gpc3 ... See more keywords
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia
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DOI: 10.1002/humu.23973
Abstract: NADH‐cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. In this Mutation Update, we provide a comprehensive review of all the pathogenic… read more here.
Keywords: update variants; recessive congenital; mutation update; congenital methemoglobinemia ... See more keywords
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
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DOI: 10.1002/humu.24391
Abstract: ENPP1 encodes ENPP1, an ectonucleotidase catalyzing hydrolysis of ATP to AMP and inorganic pyrophosphate (PPi), and an endogenous plasma protein physiologically preventing ectopic calcification of connective tissues. Mutations in ENPP1 have been reported in association… read more here.
Keywords: mutation update; calcification; enpp1 gene; mutation ... See more keywords
Mutation update: The spectra of PLEC sequence variants and related plectinopathies
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DOI: 10.1002/humu.24434
Abstract: Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N‐terminal domain, the Rod domain, and the C‐terminal… read more here.
Keywords: plec; mutation update; variants related; ebs ... See more keywords
Mutation update for the ACTN2 gene
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DOI: 10.1002/humu.24470
Abstract: ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal… read more here.
Keywords: mutation update; previously reported; update actn2; actn2 gene ... See more keywords