Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.L780*
Back to variants list

CYLD

NM_001378743.1:p.L780*

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Tantcheva-Poór I et al.

Dermatology (basel, Switzerland), 2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Verhoeft KR et al.

Cancers of the Head & Neck, 2016

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Grossmann P et al.

The American Journal of Dermatopathology, 2013

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Wang FX et al.

Archives of Dermatological Research, 2010

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW et al.

Human Mutation, 2009

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.

Huang TM et al.

Clinical and Experimental Dermatology, 2009

CYLD mutations in familial skin appendage tumours.

Saggar S et al.

Journal of Medical Genetics, 2008

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Lv HL et al.

Journal of Dermatological Science, 2008

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.

Zhang G et al.

Experimental Dermatology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."