9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
April 2024 in “Anais Brasileiros de Dermatologia” February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
28 citations
,
November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
The treatment was not recommended due to limited effectiveness and significant side effects.
April 2016 in “Journal of Investigative Dermatology” Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
October 2023 in “Pediatric blood & cancer” Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
3 citations
,
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.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
25 citations
,
October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
5 citations
,
September 2023 in “Journal of Cosmetic Dermatology” c-Maf positive macrophages help form hypertrophic scars by affecting fibroblasts and collagen production.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.