8 citations
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March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
1 citations
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May 2015 in “Experimental Dermatology” Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
3 citations
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April 2010 in “The FASEB Journal” Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
2 citations
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March 2024 in “International Journal of experimental research and review” Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
1 citations
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October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
252 citations
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November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
3 citations
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May 2022 in “Oncogene” Vav2 and Vav3 proteins help control skin stem cell numbers and activity in both healthy and cancerous cells.
December 2020 in “Research Square (Research Square)” A genetic change in the FGF5 gene affects hair growth in cashmere goats.
40 citations
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December 2010 in “Human Genetics” 21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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.
16 citations
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March 2020 in “Animal Biotechnology” Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
1 citations
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April 2023 in “Science Advances” High levels of ERK activity are key for tissue regeneration in spiny mice, and activating ERK can potentially redirect scar-forming healing towards regenerative healing in mammals.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
3 citations
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August 2024 in “Molecular Biology Reports” LncRNA018392 helps goat skin cells grow by increasing CSF1R.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.