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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
28 citations
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October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” N-acetyl-GED may help prevent and partially reverse a process that leads to scarring hair loss.
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
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January 2024 in “Theranostics” Intranasal delivery of gene therapy shows promise for treating ischemic stroke.
February 2025 in “Journal of Clinical Investigation” RNase L hinders hair growth by altering immune signals.
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
24 citations
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October 1995 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The nafarelin test can reliably distinguish between gonadotropin deficiency and delayed puberty in teenage boys.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The N-K GM Series offers a free, effective solution to eliminate aflatoxin and cancer, improving health and life expectancy.
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.
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January 1995 in “European Journal of Neuroscience” Glycine is a key transmitter in rat spinal cord synapses, often alongside GABA.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
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March 2019 in “Journal of Histochemistry and Cytochemistry” Neuronatin is found in specific cells within rat testis, hair follicles, tongue, and pancreas, suggesting it has various roles in tissue development and function.
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
January 2025 in “Clinical and Translational Medicine” A specific RNA can help hair growth in baldness by boosting stem cell activity.
March 2024 in “Dermatology and therapy (Internet)” Genetic factors could lead to personalized treatments for hair loss.