ACTN3 genotype is associated with human elite athletic performance.
- N. Yang, D. MacArthur, K. North
- BiologyAmerican Journal of Human Genetics
- 1 September 2003
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
- P. Schwartz, S. Priori, R. Bloise
- MedicineCirculation
- 1 January 2001
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.
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
- I. Splawski, K. Timothy, M. Keating
- Biology, MedicineProceedings of the National Academy of Sciences…
- 7 June 2005
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.
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
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.
Competitive binding of α-actinin and calmodulin to the NMDA receptor
- M. Wyszynski, Jerry W. Lin, M. Sheng
- Biology, ChemistryNature
- 30 January 1997
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
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.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
- H. Gazda, M. R. Sheen, A. Beggs
- Medicine, BiologyAmerican Journal of Human Genetics
- 12 December 2008
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
- J. N. Haslett, D. Sanoudou, L. Kunkel
- Biology, MedicineProceedings of the National Academy of Sciences…
- 1 November 2002
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.
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
- D. S. Paterson, F. Trachtenberg, H. Kinney
- Biology, MedicineJAMA
- 1 November 2006
Medullary 5-HT pathology in SIDS is more extensive than previously delineated, potentially including abnormal5-HT neuron firing, synthesis, release, and clearance and preliminary neurochemical evidence that may help explain the increased vulnerability of boys to SIDS.
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor.
- M. Wyszynski, J. Lin, M. Sheng
- Biology, ChemistryNature
- 1997
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…
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