Turnitin
降AI改写
早检测系统
早降重系统
Turnitin-UK版
万方检测-期刊版
维普编辑部版
Grammarly检测
Paperpass检测
checkpass检测
PaperYY检测
Laboratory approach to hemolytic anemia
Hemolytic anemias are a group of disorders with varied clinical and molecular
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …
Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage
Background The evolutionary pressure of endemic malaria and other erythrocytic pathogens
has shaped variation in genes encoding erythrocyte structural and functional proteins …
has shaped variation in genes encoding erythrocyte structural and functional proteins …
Biallelic hexokinase 1 (HK1) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature …
EM Ukonmaanaho, S Dell'Anna… - British Journal of …, 2024 - Wiley Online Library
The hexokinase (HK) enzyme plays a key role in red blood cell energy production.
Hereditary non‐spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare …
Hereditary non‐spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare …
Spermatogenic cell-specific type 1 hexokinase (HK1S) is essential for capacitation-associated increase in tyrosine phosphorylation and male fertility in mice
Hexokinase (HK) catalyzes the first irreversible rate-limiting step in glycolysis that converts
glucose to glucose-6-phosphate. HK1 is ubiquitously expressed in the brain, erythrocytes …
glucose to glucose-6-phosphate. HK1 is ubiquitously expressed in the brain, erythrocytes …
[HTML][HTML] Next-generation sequencing–based diagnosis of unexplained inherited hemolytic anemias reveals wide genetic and phenotypic heterogeneity
Determination of the cause of inherited hemolysis is based on clinical and stepwise
conventional laboratory tests. Patients with obscure etiology require genetic diagnosis …
conventional laboratory tests. Patients with obscure etiology require genetic diagnosis …
Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis
Background Genetic variants have been found to influence red blood cell (RBC)
susceptibility to hemolytic stress and affect transfusion outcomes and the severity of blood …
susceptibility to hemolytic stress and affect transfusion outcomes and the severity of blood …
[HTML][HTML] A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome
Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease
manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to …
manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to …
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is a
recently described genetic condition caused by de novo missense HK1 variants. Phenotypic …
recently described genetic condition caused by de novo missense HK1 variants. Phenotypic …
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Most genetic variants associated with complex traits and diseases occur in non-coding
genomic regions and are hypothesized to regulate gene expression. To understand the …
genomic regions and are hypothesized to regulate gene expression. To understand the …
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome
Boucher–Neuhäuser syndrome (BNHS) is characterized by chorioretinal dystrophy,
hypogonadotropic hypogonadism, and cerebellar dysfunction and atrophy. The disorder has …
hypogonadotropic hypogonadism, and cerebellar dysfunction and atrophy. The disorder has …