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- Publications
- Influence
ACTN3 genotype is associated with human elite athletic performance.
- N. Yang, D. MacArthur, +4 authors K. North
- Biology, Medicine
- American journal of human genetics
- 1 September 2003
There is increasing evidence for strong genetic influences on athletic performance and for an evolutionary "trade-off" between performance traits for speed and endurance activities. We have recently… Expand
Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias
- P. Schwartz, S. Priori, +24 authors R. Bloise
- Medicine, Physics
- Circulation
- 1 January 2001
Background—The congenital long-QT syndrome (LQTS) is caused by mutations on several genes, all of which encode cardiac ion channels. The progressive understanding of the electrophysiological… Expand
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
- I. Splawski, K. Timothy, +5 authors M. Keating
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 7 June 2005
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent… Expand
Competitive binding of α-actinin and calmodulin to the NMDA receptor
- M. Wyszynski, J. Lin, +4 authors M. Sheng
- Biology
- Nature
- 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… Expand
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
Focal and segmental glomerulosclerosis (FSGS) is a common, non-specific renal lesion. Although it is often secondary to other disorders, including HIV infection, obesity, hypertension and diabetes,… Expand
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor.
- M. Wyszynski, J. Lin, +4 authors M. Sheng
- Medicine
- Nature
- 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… Expand
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
- J. N. Haslett, D. Sanoudou, +5 authors L. Kunkel
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 1 November 2002
The primary cause of Duchenne muscular dystrophy (DMD) is a mutation in the dystrophin gene leading to the absence of the corresponding RNA transcript and protein. Absence of dystrophin leads to… Expand
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
- H. Gazda, M. R. Sheen, +18 authors A. Beggs
- Biology, Medicine
- American journal of human genetics
- 12 December 2008
Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy.… Expand
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
- D. S. Paterson, F. Trachtenberg, +6 authors H. Kinney
- Medicine
- JAMA
- 1 November 2006
CONTEXT
The serotonergic (5-hydroxytryptamine [5-HT]) neurons in the medulla oblongata project extensively to autonomic and respiratory nuclei in the brainstem and spinal cord and help regulate… Expand
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
The alpha-actinins are a multigene family of four actin-binding proteins related to dystrophin. The two skeletal muscle isoforms of alpha-actinin (ACTN2 and ACTN3) are major structural components of… Expand