9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
12 citations
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August 2022 in “Stem cell reviews and reports” Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
April 2016 in “Journal of Investigative Dermatology” SOX4 is crucial for the development of melanoma.
September 2025 in “Arthritis Research & Therapy” BMS-470539 reduces skin fibrosis and inflammation.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
January 2004 in “Molecular biotechnology” 19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
165 citations
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January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
80 citations
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June 1997 in “The American Journal of Human Genetics”
February 2026 in “Applied Biosciences” The study found potential new DNA patterns in fertility genes, but further testing is needed.
5 citations
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April 2022 in “Genes” miR-129-5p affects hair growth by targeting the HOXC13 gene.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
1 citations
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January 2004 in “Adelaide Research & Scholarship (AR&S) (University of Adelaide)” SPARC likely aids in tissue remodeling during the hair cycle, not in starting new hair growth phases.
January 2024 in “Animals” Circular RNA ERCC6 helps activate stem cells important for cashmere goat hair growth by interacting with specific molecules in an m6A modification-dependent way.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
10 citations
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July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
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.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
28 citations
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February 2007 in “Cancer Research” Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
July 2025 in “Journal of Investigative Dermatology”