62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
January 1999 in “Journal of Investigative Dermatology” 1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
5 citations
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September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
The gene Endothelin 3 makes mice's fur darker by increasing pigment cells and pigment levels.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
46 citations
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September 2007 in “Journal of Investigative Dermatology” 11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
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.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
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.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
2 citations
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May 2022 in “Stem cell research & therapy” Disrupted stem cell signals in hairpoor mice cause hair loss.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.