1 citations
,
August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
2 citations
,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
19 citations
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January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
5 citations
,
December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Skin cells might help spread prion diseases like Creutzfeldt-Jakob disease.
48 citations
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October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
Brunsting-Perry pemphigoid can cause scarring hair loss and may be underdiagnosed.
134 citations
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January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
2 citations
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November 2006 in “Pump Industry Analyst” Pilomatricomas don't follow the usual hair follicle cell differentiation process.
28 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.
1 citations
,
June 2023 in “Animals” CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
23 citations
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May 2013 in “Virology” HPV16 oncogenes disrupt the normal activity of hair follicle stem cells.
1 citations
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January 2020 in “Turk Dermatoloji Dergisi” A woman developed a skin condition called Pemphigus Vulgaris after a treatment to help with hair loss.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
6 citations
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March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
2 citations
,
February 2025 Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
19 citations
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July 2022 in “PNAS Nexus” Similar treatments might work for different types of scarring hair loss.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
Ribonucleotide excision repair is crucial to prevent skin cancer.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.