38 citations
,
January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
1 citations
,
September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
5 citations
,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
100 citations
,
August 2011 in “Journal of Investigative Dermatology” Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
30 citations
,
February 1996 in “Journal of Investigative Dermatology” 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.
59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
2 citations
,
October 2020 in “Journal of Pharmacology and Experimental Therapeutics” Minoxidil does not work to inhibit lysyl hydroxylases in newborn mouse lungs.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
September 2005 in “CRC Press eBooks” Vitamin D is important for skin cell growth and health, and its active form and receptor play key roles in skin and hair processes.
1 citations
,
November 2022 in “Research Square (Research Square)” A protein called HIF-1a helps control hair growth genes and could be targeted to treat hair loss.
18 citations
,
November 1994 in “Histochemical Journal” The enzyme PST is found in developing human kidneys and helps with detoxification and development.
1 citations
,
November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
49 citations
,
January 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Selective non-steroidal inhibitors of 5α-reductase type 1 can help treat DHT-related disorders.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
18 citations
,
April 2011 in “Neuropharmacology” 11β-Hydroxylase inhibitors help prevent seizures in mice by boosting natural neurosteroid production.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The RHC complex with nicotinamide promotes hair growth and health.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
3 citations
,
January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.