August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
4 citations
,
November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
70 citations
,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
37 citations
,
December 1995 in “Journal of Cell Science” Nexin 1 may help control hair growth.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
June 2026 in “Frontiers in Cell and Developmental Biology” LHX2 is crucial for development, tissue repair, and preventing diseases.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
52 citations
,
February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
5 citations
,
February 2008 in “Experimental Dermatology” Cyclosporin A promotes hair growth in mice and increases a protein linked to hair growth, but it may not work the same way in humans.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
7 citations
,
June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
1 citations
,
January 2015 in “China Animal Husbandry & Veterinary Medicine” Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
73 citations
,
June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
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.
1 citations
,
October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.