3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
8 citations
,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
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.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
Certain genetic variations are linked to hair loss in Mexican men.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.