26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
September 2021 in “CRC Press eBooks” Erosive pustular dermatosis of the scalp causes painful, scarring skin lesions on the scalp, mainly in elderly people with sun-damaged skin.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
Farudodstat can prevent hair follicle immune damage linked to alopecia areata.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
1 citations
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January 2011 in “ScholarlyCommons (University of Pennsylvania)” Notch signaling is crucial for specifying niche cells in Drosophila testis.
August 2025 in “Journal of Pediatric Endocrinology and Metabolism” A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
24 citations
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March 2008 in “Neuroscience Research” Cat paws have complex touch sensors for detailed sensory processing.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
November 2024 in “Stem Cell Research & Therapy” A new method improves the isolation of hair follicle cells for better hair growth research.
28 citations
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January 2011 in “Hearing Research” Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
February 2022 in “Mediators of Inflammation” Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
1 citations
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May 2022 in “Research Square (Research Square)” Acetate helps reduce depression in rats with PCOS by lowering specific gene expression and DNA changes in the brain.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
16 citations
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October 2013 in “Anais Brasileiros de Dermatologia” Scalp condition healed with prednisone and tacrolimus.
December 2025 in “Journal of Paediatrics and Child Health” Tick-bite alopecia can be identified by a bite-centered mark and treated with topical steroids, while SENLAT needs doxycycline.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
2 citations
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February 2019 in “Journal of Investigative Dermatology” Higher levels of the DP2 receptor may lead to hair loss.