November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
Lhx2 helps retinal cells respond to signals for eye development.
February 2026 in “The Plant Journal” ADF8 and ADF11 help root hairs grow by responding to hormones and environmental signals.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
2 citations
,
February 2025 in “Journal of Investigative Dermatology” 16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
April 2016 in “Journal of Investigative Dermatology” Wnt ligands, produced by dermal papilla cells, are essential for adult hair growth and regeneration.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
March 2026 in “Calcified Tissue International” The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
7 citations
,
August 2020 in “Animal biotechnology” A specific RNA in cashmere goats helps improve hair growth by interacting with certain molecules.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
27 citations
,
July 2017 in “Scientific Reports” N-WASP is essential for healthy skin and preventing inflammation.
45 citations
,
March 1997 in “Journal of Investigative Dermatology”
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
195 citations
,
November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
4 citations
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May 2022 in “Genes & Diseases” Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.