November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
46 citations
,
December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
3 citations
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December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
42 citations
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July 2014 in “Journal of biological chemistry/The Journal of biological chemistry” Heparan sulfate is important for hair growth, preventing new hair formation in mature skin, and controlling oil gland development.
ISX9 helps regrow hair by activating a specific cell signaling pathway.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
4 citations
,
May 2024 in “Cytotechnology” 20 citations
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April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
September 2018 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
47 citations
,
August 2000 in “Endocrine Reviews” The document concludes that more research is needed to understand excessive hair growth in women with normal hormone levels and regular ovulation.
July 2018 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
May 2018 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
March 2018 in “Hair transplant forum international” The document's content couldn't be processed to provide a conclusion.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
19 citations
,
December 1990 in “Journal of Histochemistry & Cytochemistry” Foreskin keratinocytes and SVK14 cells express certain cytochrome P450 enzymes, unlike hair follicle keratinocytes.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
18 citations
,
June 1992 in “Acta Histochemica” Human hair follicles have a unique cell distribution and differentiation pattern during growth.
12 citations
,
December 2011 in “Journal of Dermatological Science” The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
8 citations
,
July 2023 in “Inflammation and Regeneration” ALKBH5 helps wounds heal faster by stabilizing PELI2 mRNA.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.