Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy [PDF]
Chinese Medical Journal, 2019 Peng-Peng Liu +5 more
doaj +4 more sources
Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice [PDF]
JCI InsightGrowing evidence indicates that PKLR, the gene for pyruvate kinase (PK), is a genetic modifier of the sickle cell phenotype. Coinheritance of specific PKLR variants is associated with increased pain-related hospitalization and can trigger sickle cell ...
Xunde Wang +14 more
doaj +2 more sources
A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency [PDF]
British Journal of Haematology, 2000 Mutations in the PKLR gene responsible for pyruvate kinase (PK)‐deficient anaemia are mainly located in the coding regions: 11 are in the splicing sites and, recently, three mutations have been described in the promoter region. We now report a novel point mutation A→G on nucleotide 72, upstream from the initiation codon of the PKLR gene, in four ...
Licinio Manco +2 more
exaly +3 more sources
HNF-1a promotes pancreatic cancer growth and apoptosis resistance via its target gene PKLR [PDF]
Acta Biochimica Et Biophysica Sinica, 2020 Pancreatic ductal adenocarcinoma is one of the deadliest malignant tumors, and many genes play important roles in its development. The hepatocyte nuclear factor-1a (HNF-1a) gene encodes HNF-1a, which is a transcriptional activator. HNF-1a regulates the tissue-specific expression of multiple genes, especially in pancreatic islet cells and in the liver ...
Chen Liu, Kun Fan, Xianjun Yu
exaly +3 more sources
Gene expression and alternative splicing reveal the co-regulation of host response mechanisms to avian leukosis virus subgroup J-infected in laying hens [PDF]
Poultry ScienceAvian leukosis in China has spread from broiler chickens to the local breeds and commercial laying hens. Studying resistance to avian leukosis is important for disease-resistant breeding programs.
Yalan Zhang +4 more
doaj +2 more sources
Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants [PDF]
中国当代儿科杂志ObjectiveTo investigate the clinical features, treatment, and prognosis of pyruvate kinase deficiency (PKD) caused by PKLR gene variants.MethodsClinical data of six patients with PKD who received care at the Affiliated Hospital of Qingdao University from
WANG Wen +6 more
doaj +2 more sources
Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure [PDF]
ChildrenBackground: Pyruvate kinase deficiency (PKD) is the most prevalent enzymatic defect of the glycolytic pathway, causing chronic congenital non-spherocytic hemolytic anemia.
Yung-Han Hsu +7 more
doaj +2 more sources
How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency [PDF]
Hematology ReportsBackground: Pyruvate kinase (PK) deficiency is an inherited red blood cell (RBC) enzyme disorder that results in non-immune chronic hemolytic anemia. Characteristic symptoms of PK deficiency include anemia, fatigue, splenomegaly, jaundice, gallstones ...
Sara Tama-Shekan +3 more
doaj +2 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency
Molecular Genetics & Genomic Medicine, 2023 Background Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia. Here, we summarized the clinical features and laboratory examinations of four Chinese children with PKD and analyze genomic mutations.
Fei Xie +7 more
doaj +1 more source