35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
41 citations
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April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
49 citations
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January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
April 2016 in “Journal of Investigative Dermatology” Boosting HGF signaling could improve the creation of hair follicles in lab-made skin.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
7 citations
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September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
3 citations
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February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
December 2024 in “Animals” RORA may help regulate hair growth by affecting hair follicle stem cells.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
2 citations
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August 2024 in “Animal Bioscience” m6A-circHECA may affect cashmere goat hair growth and is possibly controlled by gene promoter methylation.
June 2019 in “International journal of dermatology and venereology” The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.
1 citations
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September 2010 in “UEF eRepo (University of Eastern Finland)” Androgen receptors help prostate cancer cells grow and resist drugs.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
1 citations
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September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
12 citations
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April 2020 in “British Journal of Dermatology” Caffeine may help reduce stress-induced hair loss.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.