11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
4 citations
,
December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
September 2016 in “Journal of Dermatological Science” Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
September 2017 in “Journal of Investigative Dermatology” The Siah1 and Siah2 genes are active in mouse skin development and hair growth, especially right after birth.
December 2025 in “Biomolecules” Targeting protein S-palmitoylation could lead to new skin disease treatments.
72 citations
,
June 2001 in “Journal of Investigative Dermatology” S100A4 and S100A6 proteins may activate stem cells for hair follicle regeneration and could be potential targets for hair loss treatments.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
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.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
324 citations
,
May 2002 in “Oncogene” 6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
March 2023 in “Scientific reports” Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
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.
January 2026 in “Figshare” January 2026 in “Figshare” 179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
6 citations
,
January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
March 2026 in “Mendeley Data” rwSALT provides precise hair regrowth measurement from scalp photos.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
March 2026 in “Mendeley Data” rwSALT accurately measures hair regrowth in alopecia areata using scalp photos.
37 citations
,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
July 2025 in “Journal of Investigative Dermatology” 50 citations
,
September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
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.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
114 citations
,
July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
4 citations
,
April 2024 in “The Journal of Cell Biology” Caspase-1 helps hair stem cells move to heal wounded or inflamed skin.