June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
42 citations
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
Mutations in specific genes cause different types of ectodermal dysplasias.
20 citations
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January 2014 in “International Journal of Trichology” Hair loss linked to heart disease in young men.
1 citations
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
8 citations
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January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
18 citations
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May 2017 in “Experimental Dermatology” AMT may cause hair loss and changing dWAT activity could help treat it.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
June 2016 in “American Journal of Cardiology” Hair loss may indicate higher risk of heart disease.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
18 citations
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October 2020 in “Journal of Pharmacology and Experimental Therapeutics” KATP channel openers may cause peripheral edema by reducing lymphatic contractions and flow.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
July 2025 in “Journal of Investigative Dermatology” Miniaturized hair follicles in androgenetic alopecia show abnormal mitochondrial activity and damage.
2 citations
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June 2025 in “Journal of Investigative Dermatology” CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.
January 2015 in “Faculty of 1000 Research Ltd” Androgenetic alopecia may be irreversible due to the detachment of a muscle from hair follicles.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
February 2009 in “Journal of The American Academy of Dermatology” AGA patients have higher rates of metabolic syndrome and carotid atheromatosis, suggesting early screening and prevention is important.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
December 2021 in “Biomarkers” Men with early baldness have similar heart risk factors as others, but certain proteins are linked to higher heart disease risk.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
16 citations
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April 2007 in “Journal of Medical Primatology” The monkey's hair loss was due to an autoimmune disease, not genetics.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.