Sentence examples for by deficient expression of from inspiring English sources
Duchenne muscular dystrophy (DMD) is caused by deficient expression of the cytoskeletal protein, dystrophin.
The observed phenotype is probably not caused by deficient expression of monocarboxylic acid transporters (Additional file 2, Figure S2, [ 60]) or ketone body metabolizing enzymes.
Friedreich's ataxia (FRDA) is caused by deficient expression of the mitochondrial protein frataxin involved in the formation of iron-sulphur complexes and by consequent oxidative stress.
The autosomal recessive disease spinal muscular atrophy (SMA) is caused by deficient expression of full-length survival motor neuron (SMN) protein resulting from disruption to the survival motor neuron 1 (SMN1) gene [ 1- 3].
(soluble mannose-binding lectin 2, synonym: protein C) contains the SNP marker (rs72661131) of variable immunodeficiency [ 110], preeclampsia [ 111], and stroke [ 112] caused by deficient expression of this gene as we have also predicted in silico [ 83] and confirmed under both equilibrium [ 79] and nonequilibrium [ 80] conditions in vitro.
2, 3 AS is caused by deficient expression of the maternal copy of the UBE3A gene due to one of four molecular etiologies: deletion of the AS critical region on maternal chromosome 15q11-q13, paternal uniparental disomy (UPD) for chromosome 15, an imprinting defect causing lack of expression of the maternal copy of UBE3A, and mutations in the maternally inherited copy of UBE3A.
Hereditary hemochromatosis (HH) encompasses genetic disorders of iron overload characterized by deficient expression or function of the iron-regulatory hormone hepcidin.
For the present experiments, cells were subsequently reselected by immunopanning for highly enriched and deficient expression of mER-α and then used between passages 2 and 12. Cells were routinely cultured in DMEM containing 12.5% horse serum, 2.5% defined supplemented calf serum, and 1.5% fetal calf serum.
Patients with the deficient expression of selectin ligand by neutrophils suffer from recurrent infections, persistent leukocytosis and severe growth and mental retardation.
All of these observations suggest that deficient expression of PGRN triggered by elevated expression of TMEM106B promotes neurodegeneration.
