26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
38 citations
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150 citations
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June 1999 in “Oncogene” January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
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April 2024 in “Food Frontiers” Pu-erh tea reduces hair loss risk in offspring.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
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January 2025 in “Animal Genetics” Variants on chromosome 10 affect hair thickness in Dazu black goats.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
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January 2019 in “Advances in Clinical and Experimental Medicine” Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
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January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
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August 2024 in “Skin Research and Technology” KLB and EIF3C genes are key for early diagnosis of vitiligo and alopecia areata.
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October 2022 in “International Journal of Molecular Sciences” Quercitrin may help treat Alzheimer's by boosting brain cell signaling without causing tumors.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.