A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
9 citations
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February 2022 in “Archives animal breeding/Archiv für Tierzucht” A circular RNA helps cashmere goat hair cells become hair follicles by blocking a molecule to boost a gene important for hair growth.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
7 citations
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
3 citations
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June 1979 in “The Journal of Dermatology” Glycosaminoglycan levels peak early in hair growth and decrease as the cycle progresses.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
5 citations
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May 2008 in “Annals of saudi medicine/Annals of Saudi medicine” Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
January 2012 in “Journal of Northwest A & F University” The Eda gene helps regulate the hair cycle in goats.
93 citations
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March 2017 in “Molecular Plant” CNGC14 is crucial for calcium entry needed for root hair growth in plants.
23 citations
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August 2017 in “Genome” Gene expression affects fur development in rex rabbits.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
193 citations
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May 2008 in “Development” Activating β-catenin can turn skin cells into hair follicles.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
43 citations
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May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
November 2016 in “The Molecular Biology Society of Japan” January 2009 in “China Animal Husbandry & Veterinary Medicine” The B2C promoter works in sheep cells but not in mouse embryos.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
93 citations
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May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.