May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
July 2020 in “European urology open science” Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
January 2016 in “Human & Experimental Toxicology” A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
150 citations
,
June 1999 in “Oncogene”
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
11 citations
,
December 2013 in “International Journal of Dermatology” IL16 gene variations may affect the risk of alopecia areata in Koreans.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
15 citations
,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
1 citations
,
September 2023 in “Clinical, cosmetic and investigational dermatology” Certain genetic variants linked to immune response increase the risk of alopecia areata in Taiwanese people.
November 2025 in “PubMed” Genetic variants in specific genes cause a type of hair loss.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
3 citations
,
August 2021 in “Clinical Case Reports” Genetic testing is crucial before giving azathioprine to avoid severe side effects.
38 citations
,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
7 citations
,
September 2022 in “International journal of molecular sciences” The research found that the molecule lncRNA-H19 helps hair follicle cells grow by affecting certain cell pathways in cashmere goats.
6 citations
,
October 2022 in “International Journal of Molecular Sciences” Male mice with FGF5 mutations grow longer hair than females.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.