28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
The gene Endothelin 3 makes mice's fur darker by increasing pigment cells and pigment levels.
150 citations
,
June 1999 in “Oncogene”
1 citations
,
November 2020 in “Research Square (Research Square)” The study found specific skin cells and genes that may affect the quality of cashmere in Liaoning Cashmere Goats.
7 citations
,
June 2022 in “Frontiers in Veterinary Science” Researchers found genes linked to hair growth cycles in Inner Mongolia cashmere goats, which could help understand and treat hair loss.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
November 2025 in “animal” Certain genes in European Merino sheep help them adapt to different climates.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
PCOS involves genetic and immune factors, especially T cells, affecting its development.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
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.
March 2016 in “Benha Veterinary Medical Journal” Type XIX Collagen is present in specific skin and hair cells during development.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
11 citations
,
August 2021 in “Stem Cell Research & Therapy” The study found that pimecrolimus, a calcineurin inhibitor used for atopic dermatitis (AD), reduced the therapeutic efficacy of human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) in a mouse model. Pimecrolimus interfered with the stem cells' ability to modulate immune responses by inhibiting the nuclear translocation of NFAT3, crucial for COX2-mediated immunomodulation. This disruption affected the reduction of epidermal thickness and mast cell infiltration, key therapeutic effects of hUCB-MSCs. The findings highlighted the importance of considering drug interactions in MSC-based therapies for AD, as the combination therapy was less effective than hUCB-MSCs alone.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
7 citations
,
January 2023 in “Journal of Animal Science” miR-877-3p can improve cashmere quality by regulating hair growth in goats.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
89 citations
,
August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
7 citations
,
October 2023 in “BMC Genomics” Noncoding RNAs help determine cashmere quality in goats.