1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
March 2026 in “Journal of Nanotheranostics” Nanotechnology improves CRISPR-Cas9 delivery for cancer treatment, but challenges remain.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.
April 2025 in “Dermatology Practical & Conceptual” Increased LC3 gene expression may be linked to premature graying of hair.
Removing SIX1 in fat cells reduces skin fibrosis.
June 2023 in “Frontiers in Medicine” Protein tyrosine kinases are key in male pattern baldness, affecting skin structure, hair growth, and immune responses.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” An 11-year-old child with total hair loss may have a genetic autoimmune disease, and the outlook for hair regrowth is not good.
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
July 2004 in “British Journal of Dermatology” The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
114 citations
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January 2014 in “World Journal of Gastroenterology” People with PCOS, especially if obese, often have NAFLD, linked to obesity, insulin resistance, and high androgen levels.
September 2024 in “Medicina” Certain gene variations may protect against skin issues and oxidative stress in women with PCOS.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
2 citations
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January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
83 citations
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August 2014 in “PLoS ONE” All adults have Demodex mites, which vary by region.
78 citations
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October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.