20 citations
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March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
January 2014 in “Pathology” Early subungual melanoma might be treated with less aggressive surgery because it invades the skin under the nail more slowly.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
16 citations
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July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
October 2017 in “Data Archiving and Networked Services (DANS)” Current SLE classifications need refinement, and the complement system is a key therapeutic target.
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
23 citations
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July 2023 in “Proceedings of the National Academy of Sciences” CD8+ T cells drive alopecia areata, while regulatory T cells are protective.
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October 2021 in “Journal of the American Academy of Dermatology” PRAME helps distinguish between benign and malignant skin cells in most cases.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
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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.
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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.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
32 citations
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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 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Neoplasms hide in hair follicles to avoid the immune system.
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April 2019 in “Stem cells international” Markers CRABP1, Nestin, and Ephrin B2 are present in skin cancer environments and may influence their development.
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
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May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
April 2023 in “Journal of Investigative Dermatology” An automated system can predict death risk in thin melanoma by analyzing immune cells.