Varaico: Literature-Extracted Genetic Variants

Gene:AAAS
Variant:p.I482S
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AAAS

NM_015665.6:p.I482S

Associated Papers

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Musa SA et al.

Frontiers in Endocrinology, 2025

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

Jayant SS et al.

Hormones (athens, Greece), 2021

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

Singh K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Patt H et al.

Endocrine Connections, 2017

Triple A syndrome in Japan.

Ikeda M et al.

Muscle & Nerve, 2013

Preserving the genome by regulating chromatin association with the nuclear envelope.

Bermejo R et al.

Trends in Cell Biology, 2012

Adult or late-onset triple A syndrome: case report and literature review.

Nakamura K et al.

Journal of the Neurological Sciences, 2010

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Storr HL et al.

Molecular Endocrinology (baltimore, Md.), 2009

Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.

Kiriyama T et al.

Biochemical and Biophysical Research Communications, 2008

DNA damage and repair: from molecular mechanisms to health implications.

Altieri F et al.

Antioxidants & Redox Signaling, 2008

ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome.

Hirano M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

Mechanism of oxidative DNA damage repair and relevance to human pathology.

D'Errico M et al.

Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."