11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
40 citations
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December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
January 2014 in “China Feed” Higher expression of the keratin-associated protein 8.1 gene in Liaoning cashmere goats is linked to finer cashmere fibers.
57 citations
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June 2003 in “American Journal of Physiology-cell Physiology” Cyclosporin A helps mice grow hair by blocking a specific protein activity in skin cells.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
4 citations
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November 2024 in “Cell Biology and Toxicology” Blocking certain receptors in the lungs might help treat a specific type of asthma.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
5 citations
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February 2025 in “Cell Reports” Skin acetyl-CoA synthesis is crucial for overall lipid balance.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Key genes affect cashmere quality differences between Jiangnan and Changthangi goats.
February 2020 in “Definitions” KRT72 gene helps form hair.
3 citations
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December 2008 in “Frontiers of Agriculture in China” The Cashmere goat hair keratin gene is crucial for hair structure.
September 2020 in “Research Square (Research Square)” Researchers found that certain RNA sequences play a role in yak hair growth and these sequences are somewhat similar to those in cashmere goats.
5 citations
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February 1997 in “Bioorganic & Medicinal Chemistry” New compounds were made that effectively block a specific enzyme related to androgen conditions.
December 1989 in “Inpharma (Balgowlah)” Cyproterone helps women with hair loss caused by genetics. More research is needed to confirm the best dose.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
Blocking the Mitochondrial Pyruvate Carrier causes stress in hair follicles, which can be reduced by an ISR inhibitor.