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.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
25 citations
,
July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
19 citations
,
May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
June 2022 in “Research Square (Research Square)” Nestin-expressing cells turn into a specific type of skin cell in hair follicles during development and in adults.
3 citations
,
February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
16 citations
,
April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
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.
40 citations
,
February 1994 in “Journal of Investigative Dermatology” 115 citations
,
December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
22 citations
,
June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
3 citations
,
February 2022 in “Frontiers in Genetics” The LncRNA AC010789.1 slows down hair loss by promoting hair follicle growth and interacting with miR-21 and the Wnt/β-catenin pathway.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
150 citations
,
June 1999 in “Oncogene” 2 citations
,
December 2020 in “Frontiers in genetics” Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
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.