August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
5 citations
,
July 2025 in “Endocrine” 3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
18 citations
,
April 2011 in “Neuropharmacology” 11β-Hydroxylase inhibitors help prevent seizures in mice by boosting natural neurosteroid production.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
29 citations
,
July 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Aldh1a2 and Aldh1a3 are involved in making retinoic acid in hair follicles and have different roles in hair growth.
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.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
January 2012 in “Human health handbooks” The skin produces and uses vitamin D for bone health, cell growth, and immune function.
35 citations
,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
55 citations
,
December 1987 in “Archives of Dermatology” Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
41 citations
,
March 1998 in “Archives of Dermatological Research” The enzyme that changes testosterone to a stronger form is mostly found in the part of the hair follicle called the dermal papilla.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
29 citations
,
June 2000 in “Endocrinology” Alopecia in VDR knockout mice is due to impaired hair cycle initiation, not keratinocyte issues.
13 citations
,
August 2007 in “Bioorganic & medicinal chemistry letters” A new compound effectively inhibits human 5α-reductase 1.
66 citations
,
October 1987 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Measuring androstanediol glucuronide in blood is useful for assessing and tracking treatment in women with excessive hair growth.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
18 citations
,
March 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Estrogen increases blood vessel growth factor production, while testosterone blocks this increase.
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.
August 2025 in “ACS Omega” New compounds show promise as nonsteroidal treatments for hair loss.
62 citations
,
January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
August 2017 in “Journal of pediatric surgery case reports” A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
October 2022 in “The Egyptian Journal of Hospital Medicine” Females with idiopathic hirsutism have higher levels of omentin-1, which may lead to excessive hair growth.