135 citations
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October 1999 in “Journal of Cell Science” Overexpressing PKCα in mice skin increases inflammation but doesn't affect tumor growth.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
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June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
Lhx2 helps retinal cells respond to signals for eye development.
June 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Male hormones and reduced plakoglobin can impair heart electrical function and increase arrhythmia risk in males.
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
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January 2025 in “Proceedings of the National Academy of Sciences” LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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September 2023 in “Experimental physiology” A special receptor in sensory nerve endings helps control how they respond to stretching.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
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January 2015 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Lysophosphatidic acid affects sensory neurons and may cause neuropathic pain and itch.
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
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December 2004 in “Nature Genetics” 24 citations
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July 2015 in “Molecular Medicine Reports” Lysophosphatidic acid boosts stem cell growth and movement by creating reactive oxygen species.