2 citations
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October 2021 in “Bioinformation” Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
3 citations
,
October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
47 citations
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August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
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.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
62 citations
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January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Rodent spiny hair traits are due to genetic factors other than the Edar gene.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
4 citations
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February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
January 1997 in “Purdue e-Pubs (Purdue University)” Whole hair strands can reliably measure gamma ray exposure using ESR techniques, but samples should be analyzed quickly or stored in liquid nitrogen.
56 citations
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March 2003 in “Journal of Investigative Dermatology” 17β-estradiol can reduce inflammation in the skin.
88 citations
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August 2019 in “Nature communications” Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.