17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
15 citations
,
July 2016 in “Biochemical Journal” Wnt proteins from certain skin cells are crucial for normal hair growth and renewal.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
14 citations
,
February 2021 in “Experimental Dermatology” Cannabinoid receptor-1 signaling is essential for the survival and growth of human hair follicle stem cells.
13 citations
,
April 2009 in “PLOS ONE” No clear link between androgen receptor variation and hair loss, but more research needed.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
10 citations
,
November 2015 in “Experimental Dermatology” Skin RAGE levels are linked to inflammation and cell death.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
10 citations
,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
9 citations
,
January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
9 citations
,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
4 citations
,
May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
3 citations
,
March 2023 in “International journal of molecular sciences” Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.