Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
about
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South AfricaCell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesionLoss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.Proteases and proteomics: cutting to the core of human skin pathologies.Discovery in genetic skin disease: the impact of high throughput genetic technologiesEpidermal barrier disorders and corneodesmosome defects.Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.Novel TGM5 mutations in acral peeling skin syndrome.Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boyIdentification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.Cystatin A suppresses tumor cell growth through inhibiting epithelial to mesenchymal transition in human lung cancer.
P2860
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P2860
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
description
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name
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@en
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@nl
type
label
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@en
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@nl
prefLabel
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@en
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A.
@nl
P2860
P356
P1476
Acral peeling skin syndrome re ...... CSTA gene encoding cystatin A
@en
P2093
Aleksandar L Krunic
Kristina L Stone
P2860
P356
10.1111/PDE.12092
P577
2013-03-28T00:00:00Z