85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
17 citations
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April 2009 in “Andrologia” A boy's early puberty caused by a testicular tumor returned to normal after surgery.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
93 citations
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May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” Estrogens and androgens are crucial for male fertility.
January 2025 in “PLoS ONE” ING5 is crucial for stem cell maintenance and preventing certain cancers.
5 citations
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December 2011 in “Springer eBooks”
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.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
58 citations
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December 2018 in “Nature Communications” Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
April 2016 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Sox9 is important in the development of tumors in domestic animals.
1 citations
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January 1999 in “Theriogenology”
29 citations
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February 2007 in “Hormone and metabolic research” Blocking the androgen receptor in skin cells reduces their growth response to male hormones, suggesting a possible treatment for skin conditions linked to androgens.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
5 citations
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September 2024 in “Stem Cell Research & Therapy” Sertoli cell transplants can reduce inflammation and improve sperm quality.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
37 citations
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July 1999 in “The EMBO Journal” Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.