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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
April 2018 in “Journal of Investigative Dermatology” The new protocol using Cellutome™ and RCM safely assesses wound healing in detail.
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February 1991 in “Journal of Biological Chemistry”
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
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September 2014 in “Journal of Veterinary Internal Medicine” VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
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September 2021 in “Advanced functional materials” The DNA hydrogel helps heal diabetic wounds by absorbing fluids, warming, sticking to tissue, killing bacteria, and aiding tissue and hair regrowth.
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July 2025 in “Scientific Reports” CD133+ cells are crucial for hair growth.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
April 2025 in “Cellular and Molecular Biology” Human dermal stem/progenitor cells can divide and differentiate more than hair follicle dermal papilla cells.
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March 2015 in “Hepatitis Monthly” A woman's hair loss during Hepatitis C treatment with PEG-INF-a-2a and Ribavirin was reversible after stopping the medication.
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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October 2017 in “Gene Expression Patterns” A new mouse model helps study melanocyte cells using GFP expression.
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January 2012 in “Cell stem cell” TGF-β2 helps activate hair follicle stem cells by counteracting BMP signals.
January 2026 in “Journal of Hard Tissue Biology” Red LED light boosts cell activity and growth, aiding wound healing and blood vessel repair.
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April 1989 in “Alcoholism Clinical and Experimental Research” The ethanol patch test reliably identifies ALDH phenotype.
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December 1994 in “Journal of Investigative Dermatology”
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that a specific type of immune cell, memory-like NK cells, may increase during active hair loss in Alopecia areata.
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January 2024 in “Allergy” Everyone has an immune response to PPD, but reactions differ, causing tolerance, mild inflammation, or allergy.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.