Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.Q823_V824Splc
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CYLD

NM_001378743.1:p.Q823_V824Splc

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Davies HR et al.

Nature Communications, 2019

31624251 (PubMed )
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Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.

Parren LJMT et al.

Archives of Dermatological Research, 2018

Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells.

Rajan N et al.

The Journal of Pathology, 2016

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

A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds.

Nagy N et al.

Acta Dermato-venereologica, 2013

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

Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours.

Rajan N et al.

Oncogene, 2011

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Rajan N et al.

Archives of Dermatology, 2009

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

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

Zhang G et al.

Experimental Dermatology, 2006

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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."