11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
January 2008 in “中山醫學大學醫學研究所學位論文” Danthron from Rhubarb causes melanoma cells to stop growing and die.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
16 citations
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February 2009 in “Clinical neurology and neurosurgery” Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
4 citations
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January 1998 in “Heterocycles” Researchers made two new compounds that could be used for medicine.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
January 2013 in “Heilongjiang xumu shouyi” Researchers cloned a gene from Xinjiang fine-wool sheep, finding it very similar to other sheep and somewhat similar to goats, humans, and rabbits.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
36 citations
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July 2017 in “Journal of controlled release” A new method allows for controlled, long-lasting delivery of retinoic acid through the skin with fewer side effects.
August 2025 in “International Journal of Molecular Sciences” AVT is highly conserved and may have antimicrobial properties.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
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.
1 citations
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
1 citations
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April 2002 in “PubMed” Anti-epileptic drugs may cause visual and hair side effects due to enzyme inhibition, especially in genetically predisposed individuals.
4 citations
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December 2024 in “European Journal of Medicinal Chemistry” New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
A specific gene change in APCDD1 increases the risk of hair loss.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
August 2008 in “European Neuropsychopharmacology” RY-023, a specific drug, can improve early stage memory learning without affecting general activity in rats, but it's less effective for later learning stages and doesn't impact memory recall.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.