9 citations
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April 1970 in “Biochemical pharmacology” Stilbamidine and hydroxystilbamidine inhibit enzyme release from lysosomes and have effects similar to cortisol and chloroquine.
July 2022 in “Journal of Investigative Dermatology” Lef1 is essential for normal skin, hair growth, and healing wounds in mice.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The hexosamine pathway helps maintain healthy skin by affecting the skin's structure and possibly increasing hair follicle stem cells.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
72 citations
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May 1993 in “The Journal of Cell Biology” Trichohyalin in sheep hair follicles may help with structure and calcium binding.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
28 citations
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August 2005 in “Journal of Investigative Dermatology” TG5 helps maintain hair follicle health, while TG3 aids in hair shaft development.
19 citations
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March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
3 citations
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February 1983 in “Journal of Investigative Dermatology” Hair plucking quickly increases antizyme, reducing a specific enzyme activity in rats.
354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
33 citations
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January 1997 in “Journal of Investigative Dermatology” 20 citations
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October 2017 in “Stem Cell Reports” Alkaline Ceramidase 1 prevents early hair loss in mice by keeping hair follicle stem cells balanced.
71 citations
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June 1993 in “Journal of Investigative Dermatology”
59 citations
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May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
35 citations
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September 1994 in “Journal of Investigative Dermatology” 44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
12 citations
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April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.