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.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
16 citations
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September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
19 citations
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October 2016 in “Journal of oncology pharmacy practice” A cancer patient's hair became permanently curly after treatment with nivolumab.
130 citations
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January 2000 in “Nature biotechnology”
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.
13 citations
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January 2020 in “Scientific Reports” The African spiny mouse heals skin without scarring due to different protein activity compared to the common house mouse, which heals with scarring.
297 citations
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January 2002 in “Development” Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
11 citations
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June 2005 in “Postgraduate Medical Journal” Some infants temporarily grow scrotal hair, which usually disappears on its own without any health issues.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
54 citations
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January 1983 in “Archives of Dermatology” KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
August 2019 in “International journal of dermatology and venereology” The calcineurin/NFAT pathway plays a significant role in the development and growth of a type of skin cancer called cutaneous squamous cell carcinoma.
147 citations
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September 2006 in “Developmental Cell” Too much Smad7 changes skin and hair development by breaking down a protein called β-catenin, leading to more oil glands and fewer hair follicles.
November 2022 in “Journal of Investigative Dermatology” Neutrophils quickly respond to skin injury.
3 citations
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September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.