7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
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.
September 1997 in “Clinical and Experimental Dermatology”
54 citations
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November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
1 citations
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October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
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.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
5 citations
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January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
10 citations
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November 2010 in “Journal of Dermatology” Longer CAG repeats in gene linked to more severe hair loss in females.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
A new genetic mutation was found causing hair and eye issues in a boy.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
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.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.