7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2026 in “Biochemical Pharmacology” 1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
November 2025 in “Clinical and Translational Medicine” DNAJB9 cfRNA could help diagnose and treat female hair loss.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
193 citations
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June 2007 in “The Plant Journal” GhDET2 is crucial for cotton fiber growth.
25 citations
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June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
49 citations
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September 2016 in “Genes Brain & Behavior” Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
29 citations
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July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
32 citations
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January 2000 in “International Journal of Cancer” Transglutaminase-3 is often reduced in esophageal cancer.
1 citations
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November 2023 in “Chemical and Biological Technologies in Agriculture” JUNB boosts hair growth in goats by helping specific skin cells multiply.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
41 citations
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December 1988 in “Journal of Investigative Dermatology”
12 citations
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June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
19 citations
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September 2011 in “Journal of Dermatological Science” TGF-β1 increases androgen receptor activity in hair loss, but Hic-5/ARA55 can counter this effect.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
December 2024 in “Regenerative Therapy” Inhibiting SFRP1 may help treat hair loss.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.