195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
2 citations
,
May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
1 citations
,
January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
20 citations
,
May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
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.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
March 2026 in “Animal Models and Experimental Medicine” Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.