September 2017 in “Journal of Investigative Dermatology” Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
16 citations
,
April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
15 citations
,
January 1987 in “Electrophoresis” Human head hair proteins can be typed into eight distinct patterns, useful for genetic and forensic investigations.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
52 citations
,
October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
44 citations
,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
14 citations
,
January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
4 citations
,
October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
100 citations
,
June 2002 in “Diabetologia” Parents of women with PCOS have a higher risk of Type II diabetes and insulin resistance, especially fathers.
82 citations
,
March 2012 in “Development” Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
53 citations
,
March 2014 in “Cold Spring Harbor Perspectives in Medicine” The document explains different types of hair loss, their causes, and treatments, and suggests future research areas.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
30 citations
,
December 2001 in “Experimental dermatology” Gonadal hormones significantly affect the severity of alopecia areata in mice.
29 citations
,
March 2023 in “European Journal of Human Genetics” New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
25 citations
,
September 2010 in “Journal of Cutaneous Medicine and Surgery” The study found that Central Centrifugal Cicatricial Alopecia mainly affects middle-aged African descent women, is linked to certain hair care practices and genetics, and often goes undiagnosed for years.
17 citations
,
July 1994 in “Journal of Dermatological Science” The cause of alopecia areata is likely a mix of genetics, immune system issues, and environmental factors, with more research needed to understand it fully.
16 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” New treatments and early diagnosis methods for permanent hair loss due to scar tissue are important for managing its psychological effects.
15 citations
,
January 2010 in “Experimental Dermatology” Hair loss in certain young mice is linked to a specific gene and can be caused by lack of iron.
14 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.