11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
January 2023 in “National journal of physiology, pharmacy and pharmacology” Low-dose methotrexate is generally safe but can cause mild to severe side effects, and folic acid can reduce these risks.
115 citations
,
March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
11 citations
,
June 2015 in “Scientific Reports” The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
76 citations
,
January 1998 in “Mammalian Genome” 74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
A specific gene change in APCDD1 increases the risk of hair loss.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
77 citations
,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
10 citations
,
January 2010 in “Veterinary pathology” A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.