86 citations
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May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
6 citations
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July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
5 citations
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July 2014 in “Molecular Biology Reports” January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
130 citations
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April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
April 2024 in “Anais Brasileiros de Dermatologia”
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
3 citations
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June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
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.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.