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ACTN3 genotype is associated with human elite athletic performance.
TLDR
Associations between ACTN3 genotype and athletic performance suggest that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, and provides an evolutionary advantage because of increased sprint performance.
Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias
TLDR
Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
TLDR
Evidence is presented that mutations in the gene encoding alpha-actinin-4 (ACTN4) are the cause of disease in three families with an autosomal dominant form of FSGS, and Regulation of the actin cytoskeleton of glomerular podocytes may be altered in this group of patients.
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
TLDR
Computer modeling showed prolongation of cardiomyocyte action potentials and delayed afterdepolarizations, factors that increase risk of arrhythmia, and data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS.
Competitive binding of α-actinin and calmodulin to the NMDA receptor
The mechanisms by which neurotransmitter receptors are immobilized at postsynaptic sites in neurons are largely unknown. The activity of NMDA (N-methyl-D-aspartate) receptors is mechanosensitive1 and
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
TLDR
Evidence is presented that mutations in the gene encoding α-actinin-4 (ACTN4) are the cause of disease in three families with an autosomal dominant form of FSGS, and Regulation of the actin cytoskeleton of glomerular podocytes may be altered in this group of patients.
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor.
The mechanisms by which neurotransmitter receptors are immobilized at postsynaptic sites in neurons are largely unknown. The activity of NMDA (N-methyl-D-aspartate) receptors is mechanosensitive and
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
TLDR
To examine the pathogenic pathways and identify new or modifying factors involved in muscular dystrophy, expression microarrays were used to compare individual gene expression profiles of skeletal muscle biopsies from 12 DMD patients and 12 unaffected control patients and identified 105 genes that differ significantly in expression level between unaffected and DMD muscle.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
TLDR
It is demonstrated that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosome subunit production pathway, expanding the repertoire of ribOSomal RNA processing defects associated with DBA.
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
TLDR
Genotyping of non-human primates indicates that the 577X null mutation has likely arisen in humans, and sequence comparison of human, mouse and chicken alpha-actinin genes demonstrates that ACTN3 has been conserved over a long period of evolutionary time, implying a constraint on evolutionary rate imposed by continued function of the gene.
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