January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
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.
8 citations
,
April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
1 citations
,
August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
14 citations
,
March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
15 citations
,
August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
578 citations
,
April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
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.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
1 citations
,
September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
69 citations
,
August 1999 in “Developmental biology” The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
17 citations
,
August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
December 2015 in “PLOS Genetics”
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.