Varaico: Literature-Extracted Genetic Variants

Gene:FERMT1
Variant:p.K387delFs
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FERMT1

NM_017671.5:p.K387delFs

Associated Papers

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Guerrero-Aspizua S et al.

Orphanet Journal of Rare Diseases, 2019

Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.

Yıldırım TT et al.

The Turkish Journal of Pediatrics, 2017

Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis.

Postel R et al.

The Journal of Investigative Dermatology, 2013

Induction of senescence pathways in Kindler syndrome primary keratinocytes.

Piccinni E et al.

The British Journal of Dermatology, 2013

Kindlin-1 regulates integrin dynamics and adhesion turnover.

Margadant C et al.

Plos One, 2013

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Has C et al.

Human Mutation, 2011

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

Lai-Cheong JE et al.

The American Journal of Pathology, 2009

[Kindler syndrome. A new bullous dermatosis].

Has C

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2009

Kindler syndrome: a focal adhesion genodermatosis.

Lai-Cheong JE et al.

The British Journal of Dermatology, 2009

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2008

A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.

Kaçar N et al.

The British Journal of Dermatology, 2008

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Has C et al.

The Journal of Investigative Dermatology, 2006

Kindler syndrome.

Ashton GH

Clinical and Experimental Dermatology, 2004

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

Ashton GH et al.

The Journal of Investigative Dermatology, 2004

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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."