7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
38 citations
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February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
4 citations
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March 2024 in “Cells” MiR-23b and miR-133 affect sheep hair growth by targeting specific genes.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
1 citations
,
October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
143 citations
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January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
November 2025 in “Clinical and Translational Medicine” DNAJB9 cfRNA could help diagnose and treat female hair loss.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
December 2020 in “Research Square (Research Square)” A genetic change in the FGF5 gene affects hair growth in cashmere goats.
6 citations
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
11 citations
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May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” Identical p53 gene mutations in different cancers suggest the need for careful treatment.