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GlossaryDDB1 and CUL4 associated factor 17 (DCAF17)

protein involved in tagging unwanted proteins for degradation

DDB1 and CUL4 associated factor 17, also known as DCAF17, is a protein that plays a role in the regulation of cellular processes by participating in the ubiquitin-proteasome system, which tags unwanted proteins for degradation. Mutations in the DCAF17 gene have been linked to certain forms of alopecia, a condition characterized by hair loss, highlighting its importance in hair follicle biology and maintenance.

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Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations, December 2021 in “Frontiers in endocrinology”

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations, September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

14 citations, March 2018 in “The American journal of case reports”

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family

4 citations, December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature

31 citations, January 2014 in “Journal of endocrinological investigation”

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations, January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters

5 citations, November 2021 in “Saudi medical journal”

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods

1 citations, August 2021 in “Canadian journal of neurological sciences”

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

19 citations, December 2015 in “European Journal of Human Genetics”

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

43 citations, December 2013 in “Seminars in Cell & Developmental Biology”

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

research Polyglandular Autoimmune Syndrome Type 4 with GAD Antibody and Dystonia

9 citations, February 2012 in “Clinical Neurology and Neurosurgery”

Dystonia may be part of PAS-4 and linked to immune issues.

research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients

43 citations, April 2010 in “Clinical genetics”

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing

1 citations, March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.

research Protein Degradation: Expanding the Toolbox to Restrain Cancer Drug Resistance

7 citations, January 2023 in “Journal of Hematology & Oncology”

Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.

research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing

5 citations, November 2022 in “Genetics selection evolution”

Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.

research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation

3 citations, April 2023 in “Veterinary sciences”

Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.

research Increasing GSH-Px Activity and Activating Wnt Pathway Promote Fine Wool Growth in FGF5-Edited Sheep

June 2024 in “Cells”

Editing the FGF5 gene in sheep increases fine wool growth.