21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology”
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
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.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
25 citations
,
July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
14 citations
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April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
October 2025 in “Animal Bioscience” Key genes linked to important traits in Chinese sheep and goats have been identified, but challenges remain in breeding improvements.
4 citations
,
December 2024 in “Protein & Cell” MultiKano accurately identifies cell types in complex data better than existing methods.
The goat hair keratin gene is very similar to sheep's and is strongly expressed in goat hair follicles.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
117 citations
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September 2003 in “Molecular & cellular proteomics” The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
March 2026 in “Journal of genetics and genomics/Journal of Genetics and Genomics” May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
48 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
6 citations
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April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
5 citations
,
May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
417 citations
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September 2005 in “PLoS biology” Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
April 2026 in “Experimental & Molecular Medicine” Mouse and human skin development share similar fibroblast timelines.
April 2024 in “Pigment cell & melanoma research” Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
14 citations
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December 1991 in “Annals of the New York Academy of Sciences” MYC protooncogenes may be important for hair growth, but more research is needed.