Associated Papers
Identification of novel disease-causing variants and their influence on clinical presentation in dihydrofolate reductase deficiency.
Wang D et al.
Neuroscience, 2025
Systematic characterization of indel variants using a yeast-based protein folding sensor.
Larsen-Ledet S et al.
Structure (london, England : 1993), 2025
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
Deep mutational scanning of Pneumocystis jirovecii dihydrofolate reductase reveals allosteric mechanism of resistance to an antifolate.
Rouleau FD et al.
Plos Genetics, 2024
38683847 (PubMed )
Supplement: pgen.1011252.s019.xlsx › Curration_file
The hidden (degron) truth behind the degradation of DHFR disease-associated variants.
Koren I
Structure (london, England : 1993), 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Trimethoprim resistance of dihydrofolate reductase variants from clinical isolates of Pneumocystis jirovecii.
Queener SF et al.
Antimicrobial Agents and Chemotherapy, 2013
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Genetic and epigenomic footprints of folate.
Salbaum JM et al.
Progress in Molecular Biology and Translational Science, 2012
Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability.
Dutta S et al.
Nutritional Neuroscience, 2011
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.
Wijesekara N
Clinical Genetics, 2011
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H et al.
American Journal of Human Genetics, 2011
Mutations of Pneumocystis jirovecii dihydrofolate reductase associated with failure of prophylaxis.
Nahimana A et al.
Antimicrobial Agents and Chemotherapy, 2004
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