17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
1 citations
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January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
17 citations
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April 2023 in “Cell Biology International” RDW is a useful, cost-effective tool for diagnosing and monitoring various diseases.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
September 2014 in “Archives of disease in childhood” A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
33 citations
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February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
10 citations
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October 2015 in “Journal of the International Association of Providers of AIDS Care” A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
3 citations
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February 2016 in “Pediatric dermatology” Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
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.
50 citations
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October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
47 citations
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October 2021 in “Journal of Nanobiotechnology” HPDAlR nanoparticles greatly improve skin wound healing without toxicity.