Results 81 to 90 of about 29,542 (277)
Neuroimaging Biomarkers in Paediatric Sickle Cell Disease
, 2015 Sickle Cell Disease (SCD) is a collection of genetic haemoglobinopathies, the most common and severe being homozygous sickle cell anaemia. In the UK, it has been estimated that 1 in 2000 children are born with SCD. The disease is characterised by chronic
Kawadler, JM
core
, 2016 Phenotypic heterogeneity for sickle cell disease is associated to several genetic factors such as genotype for sickle cell disease, β-globin gene cluster haplotypes and Hb F levels. The coinheritance of Hb S (HBB: c.20A > T) and Hb D-Punjab (HBB: c.364G >
Nascimento, Patrícia P. [UNESP] +8 more
core +1 more source
Newer Aspects Of The Pathophysiology Of Sickle Cell Disease Vaso-occlusion.
, 2015 Sickle cell disease is an inherited disorder of hemoglobin (Hb) synthesis, caused by a single nucleotide substitution (GTG>GAG) at the sixth codon of the beta-globin gene, leading to the production of a defective form of Hb, Hb S. When deoxygenated, Hb S
Conran, Nicola +2 more
core +2 more sources
Targeting protein–protein interactions with reversible covalent modalities: Non‐cysteine chemistries
British Journal of Pharmacology, EarlyView.Abstract Protein–protein interactions (PPIs) are central to diverse cellular functions, and represent a rapidly expanding class of therapeutic targets. Advancements in covalent drug design have enabled small‐molecule drugs to overcome challenges associated with engaging these targets, such as limited durations of action and difficult‐to‐drug (expansive,
Ruchira Basu, Steven Fletcher
wiley +1 more source
Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy
Haematologica, 2015 Intravascular hemolysis and hemoglobinuria are associated with sickle cell nephropathy. ApoL1 is involved in cell-free hemoglobin scavenging through association with haptoglobin-related protein.
Santosh L. Saraf +10 more
doaj +1 more source
Spot Test for Detection of Sickling Hemoglobin
Clinical Chemistry, 1972 Abstract We designed a simple spot-plate method for detecting sickling hemoglobins and distinguishing hemoglobin SS from AS in samples of dried blood on filter paper. The test depends on the differential solubility of sickling hemoglobins in phosphate solutions with and without 3 molar urea.
S, Kelly, L, Desjardins
openaire +2 more sources
European Journal of Haematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer +3 more
wiley +1 more source
, 2009 Impaired switching from fetal hemoglobin (HbF) to adult globin gene expression leads to hereditary persistence of fetal hemoglobin (HPFH) in adult life.
Gaudino, Sara
core
European Journal of Haematology, EarlyView.ABSTRACT Background Sickle cell disease (SCD) is a chronic and life‐limiting hemoglobin and systemic vascular disease. While over 1000 people have undergone hematopoietic cell transplantation (HCT) over the last 40 years, long‐term disease‐specific and health‐related quality of life data are lacking.
Gregory M. T. Guilcher +20 more
wiley +1 more source
The FEBS Journal, EarlyView.Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley +1 more source