Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant.
Shu J et al.
Frontiers in Pediatrics, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
Rapid screening of UPB1 gene variations by high resolution melting curve analysis.
Xu X et al.
Experimental and Therapeutic Medicine, 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang X et al.
Frontiers in Genetics, 2021
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.
Yokoi K et al.
Cancer Science, 2020
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Fang Y et al.
Medicine, 2019
Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.
Maurer D et al.
The Biochemical Journal, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
A Japanese case of β-ureidopropionase deficiency with dysmorphic features.
Akiyama T et al.
Brain & Development, 2017
[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].
Shu J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Lee JH et al.
Jimd Reports, 2015
Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
Shu J et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2014
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y et al.
Journal of Inherited Metabolic Disease, 2014
Inborn errors of pyrimidine metabolism: clinical update and therapy.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2014
Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing.
Meijer J et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing.
Meijer J et al.
Nucleosides, Nucleotides & Nucleic Acids, 2013
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 2012
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S et al.
Molecular Genetics and Metabolism, 0