Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.10.006
Abstract: Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature,… read more here.
Keywords: bmp2 variants; short stature; bmp2; skeletal cardiac ... See more keywords
Molecular Clustering of Skeletal and Cardiac Ryanodine Receptors
Sign Up to like & getrecommendations! Published in 2018 at "Microscopy and Microanalysis"
DOI: 10.1017/s1431927618006645
Abstract: Contraction of skeletal and cardiac muscles is triggered by transient increase of cytosolic Ca concentration. Such Ca transient is originated from the massive release of Ca stored in the sarco/endoplasmic reticulum (SR), via intracellular Ca… read more here.
Keywords: molecular clustering; skeletal cardiac; cardiac ryanodine; ryanodine receptors ... See more keywords
Ca2+-dependent modulation of voltage-gated myocyte sodium channels
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DOI: 10.1042/bst20200604
Abstract: Voltage-dependent Na+ channel activation underlies action potential generation fundamental to cellular excitability. In skeletal and cardiac muscle this triggers contraction via ryanodine-receptor (RyR)-mediated sarcoplasmic reticular (SR) Ca2+ release. We here review potential feedback actions of… read more here.
Keywords: skeletal cardiac; voltage; ca2 dependent; action potential ... See more keywords
GLP‐1 and insulin regulation of skeletal and cardiac muscle microvascular perfusion in type 2 diabetes
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DOI: 10.1111/1753-0407.13045
Abstract: Muscle microvasculature critically regulates skeletal and cardiac muscle health and function. It provides endothelial surface area for substrate exchange between the plasma compartment and the muscle interstitium. Insulin fine‐tunes muscle microvascular perfusion to regulate its… read more here.
Keywords: insulin; microvascular perfusion; muscle; skeletal cardiac ... See more keywords
Insight towards the identification of cytosolic Ca2+‐binding sites in ryanodine receptors from skeletal and cardiac muscle
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DOI: 10.1111/apha.12772
Abstract: Ca2+ plays a critical role in several processes involved in skeletal and cardiac muscle contraction. One key step in cardiac excitation–contraction (E–C) coupling is the activation of the cardiac ryanodine receptor (RYR2) by cytosolic Ca2+… read more here.
Keywords: muscle; ca2 binding; skeletal cardiac; binding sites ... See more keywords
GLP-1 and Insulin Recruit Muscle Microvasculature and Dilate Conduit Artery Individually But Not Additively in Healthy Humans
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DOI: 10.1210/js.2017-00446
Abstract: Abstract Context: Glucagon-like peptide-1 (GLP-1) and insulin increase muscle microvascular perfusion, thereby increasing tissue endothelial surface area and nutrient delivery. Objective: To examine whether GLP-1 and insulin act additively on skeletal and cardiac microvasculature and… read more here.
Keywords: insulin; artery; glp insulin; cardiac muscle ... See more keywords
Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice
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DOI: 10.1371/journal.pone.0221512
Abstract: Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy. Several… read more here.
Keywords: h222p mice; muscle; h222p mutant; skeletal cardiac ... See more keywords
Sirtuins as Mediator of the Anti-Ageing Effects of Calorie Restriction in Skeletal and Cardiac Muscle
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DOI: 10.3390/ijms19040928
Abstract: Fighting diseases and controlling the signs of ageing are the major goals of biomedicine. Sirtuins, enzymes with mainly deacetylating activity, could be pivotal targets of novel preventive and therapeutic strategies to reach such aims. Scientific… read more here.
Keywords: restriction; calorie restriction; restriction skeletal; cardiac muscle ... See more keywords
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins
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DOI: 10.3390/ijms22084256
Abstract: Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES… read more here.
Keywords: muscle disorders; filament proteins; muscle; skeletal cardiac ... See more keywords