9 citations
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July 2022 in “Cell reports” Sox2 controls hair color by affecting pigment production in hair follicles.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
13 citations
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August 2024 in “iScience” 3D spheroid culture makes stem cells better at reducing inflammation.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
Participating in Sexual Orientation Change Efforts may increase the risk of suicide for sexual minority individuals.
13 citations
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January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
3 citations
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
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.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
8 citations
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July 2015 in “European journal of histochemistry” Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
11 citations
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February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
78 citations
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June 2013 in “Science” Mice without the Sept4/ARTS gene heal wounds better due to more stem cells that don't die easily.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
25 citations
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January 2019 in “Annals of Dermatology” Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.