6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
22 citations
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March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
76 citations
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January 1998 in “Mammalian Genome” 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.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
10 citations
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November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
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.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
41 citations
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June 2018 in “Medicine Health Care and Philosophy” The article suggests using four questions to tell apart necessary medicalization from excessive medicalization, focusing on problem significance, social expectations, medical understanding, and effective resolution.
21 citations
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December 2016 in “PLOS ONE” Scientists made skin stem cells from other human cells with over 97% efficiency, which could help treat skin conditions.
12 citations
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January 2019 in “Regenerative Medicine” The document suggests a need for collaboration, better evidence, and a responsible framework to safely and effectively advance regenerative therapies to clinical use.
11 citations
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January 2013 in “Ocular Surface” The document concludes that modern ocular cosmetics enhance beauty and eyelash health, with safe practices and regulations being important.
5 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.
5 citations
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February 2015 in “New England journal of medicine/The New England journal of medicine” The conclusion of the case is not provided in the summary.
3 citations
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April 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Beta-caryophyllene, found in essential oils, helps wounds heal better in multiple ways.
2 citations
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October 2015 in “The New England Journal of Medicine” The woman's surgery lowered her testosterone and improved scalp hair loss but did not change her excessive body hair.