97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
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January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
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November 2020 in “Research Square (Research Square)” The study found specific skin cells and genes that may affect the quality of cashmere in Liaoning Cashmere Goats.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
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November 2021 in “Frontiers in Genetics” Certain genes are linked to the quality of cashmere in goats.
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
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July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
April 2024 in “Histochemistry and cell biology” N-acetylcysteine may prevent hair loss caused by chemotherapy.
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
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September 2023 in “Aging” Elastic Net DNA methylation clocks are inaccurate for predicting age and health status; a "noise barometer" may better indicate aging and disease.
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November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
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December 2006 in “Chinese Medical Journal” Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
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September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.