Introducing the OTC gene improved symptoms in mice with OTC deficiency.
29 citations
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March 1987 in “Therapeutic Drug Monitoring” Combining sodium valproate with other epilepsy drugs increases ammonia levels and side effects.
February 2023 in “Indian journal of private psychiatry/Indian Journal of Private Psychiatry” Valproic acid can rarely cause reversible nail discoloration.
January 2004 in “Headache” Divalproex sodium significantly improved headaches in two-thirds of patients.
82 citations
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January 2011 in “New Phytologist” VILLIN4 helps root hair growth by organizing actin with calcium.
Levetiracetam and valproate sodium both reduce seizures when added to lamotrigine, but levetiracetam has fewer side effects.
16 citations
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May 2009 in “Journal of child neurology” Valproic acid does not change biotinidase enzyme activity in children's blood.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
17 citations
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January 2008 in “Journal of the American Academy of Dermatology” Valproic acid can cause hair loss, but information on hair color change is not detailed.
Defective protein folding due to a mutation is key in ANE syndrome.
2 citations
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September 2015 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” Valproic acid can very rarely cause nail separation, which usually gets better on its own after stopping the drug.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
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.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
9 citations
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January 2022 in “Biology” Male mice are more susceptible to autism-like changes from valproic acid than female mice.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
44 citations
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February 2021 in “Scientific Reports” Mutations in the spike protein affect drug binding and effectiveness.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
73 citations
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October 2001 in “Epilepsia” Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
September 2009 in “European journal of paediatric neurology” Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
5 citations
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January 2022 in “Asian Pacific Journal of Cancer Prevention” Certain VDR gene changes can affect melanoma risk.