Results 111 to 120 of about 4,744 (194)

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

BMC Medical Genomics
Background Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder.
Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou   +10 more
doaj   +1 more source

Implementation and feasibility of DPYD-guided fluoropyrimidine use in a gastrointestinal oncology clinic at an academic medical center

Frontiers in Oncology
IntroductionGenetic variation in DPYD can result in reduced fluoropyrimidine (FP) metabolism and increased risk of severe toxicity. This DPYD test implementation pilot aimed to establish a feasible workflow for DPYD ordering sample collection and FP dose
Madeline L. Norris, Madeline L. Norris, Khoa A. Nguyen, Khoa A. Nguyen, Emily J. Cicali, Emily J. Cicali, Wandyeind Marquez Moyeno, Je-Won J. Hong, Katherine Vogel Anderson, Tim Jang, Tim Jang, Gahyun Gim, Gahyun Gim, Kathleen Sullivan, Alexandra Kennan, Petr Starostik, Thomas J. George, Thomas J. George, David L. DeRemer, David L. DeRemer, David L. DeRemer, Larisa H. Cavallari, Larisa H. Cavallari, Julio D. Duarte, Julio D. Duarte   +24 more
doaj   +1 more source

DPYD Gene [PDF]

, 2020
openaire   +1 more source

NGS resolved two cases of discrepancy between DPYD phenotype and genotype by identifying two rare DPYD variants

International audienceIntroduction: The enzyme dihydropyrimidine dehydrogenase (DPD) is the predominant catabolic pathway for fluoropyrimidines including 5-fluorouracil (5-FU) and capecitabine.
Mourah, S., Goldwirt, L., Medard, Y., Vilquin, P., Jacqz-Aigrain, E., Thomas, F.   +5 more
core   +1 more source

Case report: A case of severe capecitabine toxicity due to confirmed in trans compound heterozygosity of a common and rare DPYD variant

Frontiers in Pharmacology
Variations in the activity of the enzyme dihydropyrimidine dehydrogenase (DPD) are associated with toxicity to fluoropyrimidine-containing chemotherapy.
Amy de Haar-Holleman, Amy de Haar-Holleman, Pieter-Jan Cortoos, Pieter-Jan Cortoos, Jelle Vlaeminck, Paulien Van Landuyt, Stephane Steurbaut, Stephane Steurbaut, Freya Vaeyens, Vincent Haufroid, Vincent Haufroid   +10 more
doaj   +1 more source

DPYD Negative [PDF]

, 2020
openaire   +1 more source

P53 represses pyrimidine catabolic gene dihydropyrimidine dehydrogenase (DPYD) expression in response to thymidylate synthase (TS) targeting

, 2017
Nucleotide metabolism in cancer cells can influence malignant behavior and intrinsic resistance to therapy. Here we describe p53-dependent control of the rate-limiting enzyme in the pyrimidine catabolic pathway, dihydropyrimidine dehydrogenase (DPYD) and
Jenny Dai, Wafik S. El-Deiry, Phillip H. Abbosh, Niklas K. Finnberg, Maureen E. Murphy, Prashanth Gokare   +5 more
core   +1 more source

The Frequency of DPYD c.557A>G in the Dominican Population and Its Association with African Ancestry

Pharmaceutics
Background/Objectives: Genetic polymorphism of the dihydropyrimidine dehydrogenase gene (DPYD) is responsible for the variability found in the metabolism of fluoropyrimidines such as 5-fluorouracil (5-FU), capecitabine, or tegafur.
Mariela Guevara, Carla González de la Cruz, Fernanda Rodrigues-Soares, Ernesto Rodríguez, Caíque Manóchio, Eva Peñas-Lledó, Pedro Dorado, Adrián LLerena   +7 more
doaj   +1 more source

A predictive model for life-threatening fluoropyrimidine toxicity based on DPYD sequencing in colorectal cancer

Background: Deleterious DPYD variants are the primary identified cause of severe fluoropyrimidine-related toxicity. The objective was to improve the sensitivity of current DPYD genotyping recommendations and develop a predictive model for severe toxicity.

core   +3 more sources

DPYD wt Allele [PDF]

, 2020
openaire   +1 more source