16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
6 citations
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December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.
1 citations
,
September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
20 citations
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October 2005 in “Archives of Dermatological Research” 18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
10 citations
,
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.
10 citations
,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
5 citations
,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
November 2025 in “Journal of Diabetes Investigation” Dapagliflozin improved blood sugar control in a man with Werner syndrome without side effects.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
May 2014 in “The journal of immunology/The Journal of immunology” Early over-expression of FoxN1 harms immune and skin development.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
10 citations
,
July 2022 in “Journal of Medicinal Chemistry” Adding a second method to PROTACs could improve cancer treatment.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
2 citations
,
August 2023 in “Autophagy” Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
5 citations
,
September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
318 citations
,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
43 citations
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April 2010 in “Developmental Biology” Sebaceous glands can form new hair follicles when activated, but hair follicle bulges cannot.