4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
7 citations
,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
11 citations
,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
9 citations
,
April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
45 citations
,
July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
2 citations
,
August 2016 in “Journal of Investigative Dermatology” February 2019 in “International Journal of Dermatology and Clinical Research” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
1 citations
,
July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
1 citations
,
August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
February 2026 in “Pediatric Dermatology”
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
17 citations
,
October 2005 in “Journal of Biological Chemistry” Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.