Results 51 to 60 of about 11,986 (188)

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Loss of S100A1 expression leads to Ca2+ release potentiation in mutant mice with disrupted CaM and S100A1 binding to CaMBD2 of RyR1

Physiological Reports, 2018
Calmodulin (CaM) and S100A1 fine‐tune skeletal muscle Ca2+ release via opposite modulation of the ryanodine receptor type 1 (RyR1). Binding to and modulation of RyR1 by CaM and S100A1 occurs predominantly at the region ranging from amino acid residue ...
Erick O. Hernández‐Ochoa, Zephan Melville, Camilo Vanegas, Kristen M. Varney, Paul T. Wilder, Werner Melzer, David J. Weber, Martin F. Schneider   +7 more
doaj   +1 more source

Comparison of PRKAG3 and RYR1 gene effect on carcass traits and meat quality in Slovenian commercial pigs

Czech Journal of Animal Science, 2010
The effect of polymorphisms at PRKAG3 (R200Q and I199V) and RYR1 (R615C) genes on carcass traits and meat quality was examined in a sample of 257 commercial pigs, crosses of Landrace × Large White as maternal line and Pietrain (N = 96), Pietrain ...
M. Škrlep, T. Kavar, M. Čandek-Potokar
doaj   +1 more source

iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin

BMC Musculoskeletal Disorders, 2020
Background Previous research indicated that nitric oxide synthase (NOS) is the key molecule for S-nitrosylation of ryanodine receptor 1 (RyR1) in DMD model mice (mdx mice) and that both neuronal NOS (nNOS) and inducible NOS (iNOS) might contribute to the
Ken’ichiro Nogami, Yusuke Maruyama, Ahmed Elhussieny, Fusako Sakai-Takemura, Jun Tanihata, Jun-ichi Kira, Yuko Miyagoe-Suzuki, Shin’ichi Takeda   +7 more
doaj   +1 more source

Comparison of pharmacogenomic guidance in Australian prescribing resources and international pharmacogenomic guidelines

Internal Medicine Journal, EarlyView.
Abstract Background Pharmacogenomic‐guided medication management optimises drug therapy to enhance patient outcomes. Despite clinical utility, implementation in Australia remains limited, partly due to the lack of clear and consistent guidance. Aim This study evaluated the presence and consistency of pharmacogenomic testing indication categories and ...
Ruby Soueid, Jackson L. A. Thomas, Luke B. Hesson, Stephen Hughes, Sophie L. Stocker   +4 more
wiley   +1 more source

Identification of ATP-binding regions in the RyR1 Ca²⁺ release channel. [PDF]

PLoS ONE, 2012
ATP is an important modulator of gating in type 1 ryanodine receptor (RyR1), also known as a Ca²⁺ release channel in skeletal muscle cells. The activating effect of ATP on this channel is achieved by directly binding to one or more sites on the RyR1 ...
Olga B Popova, Mariah R Baker, Tina P Tran, Tri Le, Irina I Serysheva   +4 more
doaj   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Frontiers in Neurology, 2018
The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint ...
Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, James J. Dowling, Katherine G. Meilleur   +16 more
doaj   +1 more source

Intramolecular ex vivo Fluorescence Resonance Energy Transfer (FRET) of Dihydropyridine Receptor (DHPR) β1a Subunit Reveals Conformational Change Induced by RYR1 in Mouse Skeletal Myotubes. [PDF]

PLoS ONE, 2015
The dihydropyridine receptor (DHPR) β1a subunit is essential for skeletal muscle excitation-contraction coupling, but the structural organization of β1a as part of the macromolecular DHPR-ryanodine receptor type I (RyR1) complex is still debatable.
Dipankar Bhattacharya, Andrew Mehle, Timothy J Kamp, Ravi C Balijepalli   +3 more
doaj   +1 more source

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source