62 citations
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March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
5 citations
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August 2014 in “Australasian journal of dermatology” Sorafenib can cause delayed skin problems, so patients need careful monitoring.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
1 citations
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August 2025 in “Journal of Human Immunity” Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
1 citations
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June 2023 in “The FASEB journal” LSD1 and HSP90 help heal skin wounds by changing hair follicle stem cells' metabolism.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
September 2021 in “Journal of the American Academy of Dermatology” CTCL patients can safely continue treatment during COVID-19 with proper safety measures.
91 citations
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December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
34 citations
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January 2008 in “Developmental Biology” 4 citations
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August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
101 citations
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
688 citations
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June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
June 2025 in “International Journal of Molecular Sciences” LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
1 citations
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April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
36 citations
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June 2021 in “Experimental & Molecular Medicine” Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
1 citations
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
20 citations
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August 2014 in “PloS one” MED1 affects skin wound healing differently in young and old mice.
April 2023 in “Journal of Investigative Dermatology” Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.