29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
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.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
February 2026 in “Pediatric Dermatology” 12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
2 citations
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July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
3 citations
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November 2021 in “Journal of Clinical Laboratory Analysis” hsa_circ_0001079 may help diagnose and treat hair loss.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
43 citations
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January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
33 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
5 citations
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July 2024 in “Journal of Microbiology and Biotechnology” ICP5249 helps hair grow by activating a specific cell pathway.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
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.
11 citations
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January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
4 citations
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August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
43 citations
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August 2018 in “Cell Stem Cell” Hoxc genes control hair growth through Wnt signaling.
23 citations
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July 2020 in “BMC Genomics” NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
Four transcription factors can convert mouse cells into hair cell-like cells, aiding hearing loss research and treatment.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.