Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.E639*
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UVRAG

NM_003369.4:p.E639*

Associated Papers

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.

Osterburg C et al.

Cell Death & Disease, 2023

37072394 (PubMed )
Supplement: 41419_2023_5796_MOESM10_ESM.xlsx › p63_mutations

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Osterburg C et al.

Cancers, 2021

Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.

Russo C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29339502 (PubMed )
Supplement: pnas.1713773115.sapp.pdf

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

Guo S et al.

The Journal of Craniofacial Surgery, 2017

Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.

Patel A et al.

Bmj Case Reports, 2014

A symphony of regulations centered on p63 to control development of ectoderm-derived structures.

Guerrini L et al.

Journal of Biomedicine & Biotechnology, 2011

Downregulation of DeltaNp63alpha in keratinocytes by p14ARF-mediated SUMO-conjugation and degradation.

Vivo M et al.

Cell Cycle (georgetown, Tex.), 2009

p63-associated disorders.

Rinne T et al.

Cell Cycle (georgetown, Tex.), 2007

Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias.

Radoja N et al.

Development (cambridge, England), 2007

Regulation of the cyclin-dependent kinase inhibitor p57Kip2 expression by p63.

Beretta C et al.

Cell Cycle (georgetown, Tex.), 2005

Splitting p63.

van Bokhoven H et al.

American Journal of Human Genetics, 2002

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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."