86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
5 citations
,
March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
September 1997 in “Clinical and Experimental Dermatology”
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
1 citations
,
June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
6 citations
,
June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
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.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
July 2025 in “Journal of Investigative Dermatology” BrdU speeds up hair follicle aging and reduces hair quality.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” The HPV type 11 region activates hair-specific gene expression in mice.
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.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
48 citations
,
October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.