These mutationsresultin different hemoglobin structural variants ( structural hemoglobinopathies ) or in a decreased globin chain synthesis ( thalassemia
by mutations in the hemoglobin genes(passive) caused byabnormal structural hemoglobin variants ... , and the thalassemias , which are caused by an underproduction of otherwise normal hemoglobin molecules
Cytoskeletal perturbationleadsto platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
Cytoskeletal perturbationleadsto platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
Deoxygenation of SS erythrocytesleadsto intracellular hemoglobin polymerization , loss of deformability and changes in cell morphology
treatmentsdesignedto increase more effective hemoglobin variants and decrease abnormal variants
Diverse signal transduction pathways impinging on the N - terminal tails of histonesleadto a number of post - translational modifications including acetylation , phosphorylation , poly(ADP - ribosylation ) , ubiquitination and methylation
Gresele P. Cytoskeletal perturbationleadsto platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
It can also be usedto discovergenomic mutations including short indels and structural variants
Experimentsdesignedto study splice variants , epigenetic modifications ( methylation ) and
Such phenotypic variationmay resultfrom polymorphic differences or epigenetic modifications in genes associated with cyanogenesis
monitoring treatmentsdesignedto extend more effective hemoglobin variants and decrease abnormal variants
Activated caspase-8 and caspase-9 further initiate activation of the caspase cascadeleadingto biochemical and morphological changes associated with apoptosis
structural genescausethe formation of hemoglobin variants , and - or regulatory genes
This substitutionleadsto various structural and functional changes in the hemoglobin molecule
treatmentsdesignedto extend simpler hemoglobin variants and reduce abnormal variants
oily substancescomposedof carotenoid isomers ( chemical derivatives ) of xanthophyll called lutein and zeaxanthin
More severe protein oxidationcausesa formation of chemically modified derivatives
the most known diseaseresultingfrom a structural hemoglobin variant
by mutations in the globin genes(passive) caused byhemoglobin variants
the globin genesleadingto hemoglobin variants
amino acid substitutions in either globin chain(passive) are caused byThe hemoglobin variants
to the aging of tissue proteinscontributeto the aging of tissue proteins
to the appearance of extrarenal symptoms in patients with NPHP1 mutationsmay contributeto the appearance of extrarenal symptoms in patients with NPHP1 mutations
in a decreased p50 resultresultin a decreased p50 result
to reactivationleadingto reactivation
to modified surface charge and consequently different electrophoretic mobilitiesleadsto modified surface charge and consequently different electrophoretic mobilities
perturbed enhancer activity in cn - amlcausingperturbed enhancer activity in cn - aml
low BMD , crystal - related arthropathy , and vascular calcificationcauselow BMD , crystal - related arthropathy , and vascular calcification
false results for the a1c testcan causefalse results for the a1c test
sickle cell diseasecausesickle cell disease
MPS I to determine if those variants are benign or disease - causingcausesMPS I to determine if those variants are benign or disease - causing
readilyinfluencereadily
from the patientoriginatingfrom the patient
cardiomyopathies causingcardiomyopathies
cardiomyopathiescausingcardiomyopathies
thalassemiacausethalassemia
USH3(passive) is caused byUSH3
to a genetic disordercould contributeto a genetic disorder
Alpha - thalassemia(passive) is caused byAlpha - thalassemia
for use ondesignedfor use on
to meet the differing demands for oxygen metabolism during the various stages of embryological , fetal and neonatal ( and later ) developmentare designedto meet the differing demands for oxygen metabolism during the various stages of embryological , fetal and neonatal ( and later ) development
riskcontributerisk
errorsmay causeerrors
interference(passive) caused byinterference
false a1c test results andcan causefalse a1c test results and