Detalles de la búsqueda
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411040
2.
ß-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Mol Genet Metab
; 136(3): 177-185, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35151535
3.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Hum Mutat
; 39(7): 947-953, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29691939
4.
The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma.
Biochim Biophys Acta
; 1862(9): 1504-12, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27239701
5.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Biochim Biophys Acta
; 1862(4): 754-762, 2016 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26804652
6.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis
; 1863(3): 721-730, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28024938
7.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Mol Genet Metab
; 122(4): 216-222, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29054612
8.
Clinical, biochemical and molecular analysis of 13 Japanese patients with ß-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
J Inherit Metab Dis
; 37(5): 801-12, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24526388
9.
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
JCO Precis Oncol
; 8: e2300599, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38709992
10.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Biochim Biophys Acta
; 1822(7): 1096-108, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22525402
11.
Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma.
JCO Precis Oncol
; 6: e2000447, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35085004
12.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
Biochim Biophys Acta
; 1802(7-8): 639-48, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20362666
13.
Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes.
EJNMMI Res
; 11(1): 81, 2021 Aug 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-34424429
14.
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.
Hum Genet
; 128(5): 529-38, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20803296
15.
Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake.
EJNMMI Res
; 10(1): 78, 2020 Jul 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32642907
16.
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Hum Genet
; 125(5-6): 581-90, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19296131
17.
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
JIMD Rep
; 45: 65-69, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30349988
18.
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Biochim Biophys Acta Mol Basis Dis
; 1865(6): 1182-1191, 2019 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30658162
19.
Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma.
Cancer Chemother Pharmacol
; 57(1): 105-13, 2006 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-16133534
20.
The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2.
PLoS One
; 11(9): e0162901, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27612203