October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
August 2025 in “BMC Genomics” Certain genes contribute to stronger hooves in barefoot racing horses.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
12 citations
,
March 2021 in “Journal of Investigative Dermatology” TRPM5 is crucial for maintaining hair growth.
5 citations
,
September 2023 in “Journal of Cosmetic Dermatology” c-Maf positive macrophages help form hypertrophic scars by affecting fibroblasts and collagen production.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
April 2017 in “Journal of Investigative Dermatology” A virus protein can activate a pathway that may lead to abnormal hair follicle development.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
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.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
70 citations
,
August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Activating β-catenin increases melanocytes and decreases Schwann cells.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.