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https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#1
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29093808/sanger-sequencing-as-a-first-line-approach-for-molecular-diagnosis-of-andersen-tawil-syndrome
#2
Armando Totomoch-Serra, Manlio F Marquez, David E Cervantes-Barragán
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardiovascular diseases with a genetic background. The present opinion article wants to remark that "targeted" SSM is still effective as a first-line approach for the molecular diagnosis of some specific conditions, as is the case for Andersen-Tawil syndrome (ATS)...
2017: F1000Research
https://www.readbyqxmd.com/read/29081423/muscular-dystrophy-with-ribitol-phosphate-deficiency-a-novel-post-translational-mechanism-in-dystroglycanopathy
#3
Motoi Kanagawa, Tatsushi Toda
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins...
October 24, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29078808/treatment-with-the-anti-il-6-receptor-antibody-attenuates-muscular-dystrophy-via-promoting-skeletal-muscle-regeneration-in-dystrophin-utrophin-deficient-mice
#4
Eiji Wada, Jun Tanihata, Akira Iwamura, Shin'ichi Takeda, Yukiko K Hayashi, Ryoichi Matsuda
BACKGROUND: Chronic increases in the levels of the inflammatory cytokine interleukin-6 (IL-6) in serum and skeletal muscle are thought to contribute to the progression of muscular dystrophy. Dystrophin/utrophin double-knockout (dKO) mice develop a more severe and progressive muscular dystrophy than the mdx mice, the most common murine model of Duchenne muscular dystrophy (DMD). In particular, dKO mice have smaller body sizes and muscle diameters, and develop progressive kyphosis and fibrosis in skeletal and cardiac muscles...
October 27, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/29070057/next-generation-mapping-a-novel-approach-for-detection-of-pathogenic-structural-variants-with-a-potential-utility-in-clinical-diagnosis
#5
Hayk Barseghyan, Wilson Tang, Richard T Wang, Miguel Almalvez, Eva Segura, Matthew S Bramble, Allen Lipson, Emilie D Douine, Hane Lee, Emmanuèle C Délot, Stanley F Nelson, Eric Vilain
BACKGROUND: Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient's phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small insertions, and deletions. However, due to the use of 100-300-bp fragment reads, this platform is not well powered to sensitively identify moderate to large structural variants (SV), such as insertions, deletions, inversions, and translocations...
October 25, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29067667/flow-cytometry-defined-cd49d-expression-in-circulating-t-lymphocytes-is-a-biomarker-for-disease-progression-in-duchenne-muscular-dystrophy
#6
Wilson Savino, Fernanda Pinto-Mariz, Vincent Mouly
Duchenne muscular dystrophy (DMD) affects 1:3500-1:5000 male births, and is caused by X-linked mutations in the dystrophin gene, manifested by progressive muscle weakness and wasting due to the absence of dystrophin protein, leading to degeneration of skeletal muscle. DMD patients are clinically heterogeneous and the functional phenotype often cannot be correlated with the genotype. Therefore, defined reliable noninvasive biomarkers aiming at predicting if a given DMD child will progress more or less rapidly will be instrumental to better design inclusion of defined patients for future therapeutic assays...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29067661/designing-effective-antisense-oligonucleotides-for-exon-skipping
#7
Takenori Shimo, Rika Maruyama, Toshifumi Yokota
During the past 10 years, antisense oligonucleotide-mediated exon skipping and splice modulation have proven to be powerful tools for correction of mRNA splicing in genetic diseases. In 2016, the US Food and Drug Administration (FDA)-approved Exondys 51 (eteplirsen) and Spinraza (nusinersen), the first exon skipping and exon inclusion drugs, to treat patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), respectively. The exon skipping of DMD mRNA aims to restore the disrupted reading frame using antisense oligonucleotides (AONs), allowing the production of truncated but partly functional dystrophin proteins, and slow down the progression of the disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29057883/non-muscular-myosin-light-chain-kinase-triggers-intermittent-hypoxia-induced-interleukin-6-release-endothelial-dysfunction-and-permeability
#8
Sylvain Recoquillon, Manuel Gómez-Guzmán, Marion Rodier, Camille Koffi, Mathieu Nitiéma, Frédéric Gagnadoux, M Carmen Martínez, Ramaroson Andriantsitohaina
Obstructive sleep apnea is characterized by intermittent hypoxia (IH) which alters endothelial function, induces inflammation and accelerates atherosclerosis-induced cardiovascular diseases. The non-muscular myosin light chain kinase (nmMLCK) isoform contributes to endothelial cell-cell junction opening. Deletion of nmMLCK protects mice from death in septic shock models and prevents atherosclerosis in high-fat diet-fed mice. The aim of the study was to analyze the implication of nmMLCK in IH-induced vascular inflammation...
October 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28987470/potential-therapeutic-impact-of-omega-3-long-chain-polyunsaturated-fatty-acids-on-inflammation-markers-in-duchenne-muscular-dystrophy-a-double-blind-controlled-randomized-trial
#9
Maricela Rodríguez-Cruz, Oriana Del Rocío Cruz-Guzmán, Tomás Almeida-Becerril, Alan Donovan Solís-Serna, Salvador Atilano-Miguel, Juan Raúl Sánchez-González, Lourdes Barbosa-Cortés, Eugenia Dolores Ruíz-Cruz, Juan Carlos Huicochea, Alan Cárdenas-Conejo, Rosa Elena Escobar-Cedillo, Carlos Alberto Yam-Ontiveros, Edgar F Ricárdez-Marcial
BACKGROUND & AIMS: Duchenne Muscular Dystrophy (DMD) is the most frequent dystrophy in childhood generated by a deficiency in dystrophin. DMD is a neuromuscular disease and its clinical course comprises chronic inflammation and gradual muscle weakness. Supplementation of omega-3 long chain-Polyunsaturated Fatty Acids (ω-3 long chain-PUFA) reduces inflammatory markers in various disorders. The goal of this research was to analyze the influence of ω-3 long chain-PUFA intake on gene expression and blood inflammatory markers in boys with DMD...
September 23, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28984114/a-novel-de-novo-col6a1-mutation-emphasizes-the-role-of-intron-14-donor-splice-site-defects-as-a-cause-of-moderate-progressive-form-of-colvi-myopathy-a-case-report-and-review-of-the-genotype-phenotype-correlation
#10
Agnieszka A Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M Kochański, Rafał Płoski
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28983729/increased-casr-and-trpc6-pulmonary-vascular-expression-in-the-nitrofen-induced-model-of-congenital-diaphragmatic-hernia
#11
Hiroki Nakamura, Julia Zimmer, Tristan Lim, Prem Puri
AIMS AND OBJECTIVES: The high morbidity and mortality rates in congenital diaphragmatic hernia (CDH) are attributed primarily to severe lung hypoplasia and/or persistent pulmonary hypertension (PPH). PPH in CDH is characterized by abnormal vascular remodeling with thickening of medial and adventitial layers and extension of smooth muscle into previously nonmuscularized arteries. Excessive proliferation of pulmonary arterial smooth muscle cells (PASMC) is an important contributor to the concentric pulmonary arterial remodeling...
October 5, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28979601/rehabilitation-for-shoulder-instability-current-approaches
#12
Anju Jaggi, Susan Alexander
BACKGROUND: The shoulder relies predominantly on dynamic muscular control to provide stability. Successful treatment is highly dependent upon the correct clinical diagnosis, identification of anatomical structural defects and abnormal movement patterns so that rehabilitation programs can be designed accordingly and individualised to the patient. METHOD: A systematic outline is provided to guide the clinician on how to identify muscular insufficiencies both local to the shoulder joint and global muscles that can influence shoulder instability...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28970581/levels-of-s100b-protein-drive-the-reparative-process-in-acute-muscle-injury-and-muscular-dystrophy
#13
Francesca Riuzzi, Sara Beccafico, Roberta Sagheddu, Sara Chiappalupi, Ileana Giambanco, Oxana Bereshchenko, Carlo Riccardi, Guglielmo Sorci, Rosario Donato
Regeneration of injured skeletal muscles relies on a tightly controlled chain of cellular and molecular events. We show that appropriate levels of S100B protein are required for timely muscle regeneration after acute injury. S100B released from damaged myofibers and infiltrating macrophages expands the myoblast population, attracts macrophages and promotes their polarization into M2 (pro-regenerative) phenotype, and modulates collagen deposition, by interacting with RAGE (receptor for advanced glycation end-products) or FGFR1 (fibroblast growth factor receptor 1) depending on the muscle repair phase and local conditions...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28966890/gene-expression-of-benthic-amphipods-genus-diporeia-in-relation-to-a-circular-ssdna-virus-across-two-laurentian-great-lakes
#14
Kalia S I Bistolas, Lars G Rudstam, Ian Hewson
Circular rep-encoding ssDNA (CRESS-DNA) viruses are common constituents of invertebrate viral consortia. Despite their ubiquity and sequence diversity, the effects of CRESS-DNA viruses on invertebrate biology and ecology remain largely unknown. This study assessed the relationship between the transcriptional profile of benthic amphipods of genus Diporeia and the presence of the CRESS-DNA virus, LM29173, in the Laurentian Great Lakes to provide potential insight into the influence of these viruses on invertebrate gene expression...
2017: PeerJ
https://www.readbyqxmd.com/read/28954428/ferulic-acid-promotes-hypertrophic-growth-of-fast-skeletal-muscle-in-zebrafish-model
#15
Ya Wen, Hideki Ushio
As a widely distributed and natural existing antioxidant, ferulic acid and its functions have been extensively studied in recent decades. In the present study, hypertrophic growth of fast skeletal myofibers was observed in adult zebrafish after ferulic acid administration for 30 days, being reflected in increased body weight, body mass index (BMI), and muscle mass, along with an enlarged cross-sectional area of myofibers. qRT-PCR analyses demonstrated the up-regulation of relative mRNA expression levels of myogenic transcriptional factors (MyoD, myogenin and serum response factor (SRF)) and their target genes encoding sarcomeric unit proteins involved in muscular hypertrophy (skeletal alpha-actin, myosin heavy chain, tropomyosin, and troponin I)...
September 26, 2017: Nutrients
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#16
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28918041/gapmer-antisense-oligonucleotides-suppress-the-mutant-allele-of-col6a3-and-restore-functional-protein-in-ullrich-muscular-dystrophy
#17
Elena Marrosu, Pierpaolo Ala, Francesco Muntoni, Haiyan Zhou
Dominant-negative mutations in the genes that encode the three major α chains of collagen type VI, COL6A1, COL6A2, and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy patients and nearly all Bethlem myopathy patients. Gapmer antisense oligonucleotides (AONs) are usually used for gene silencing by stimulating RNA cleavage through the recruitment of an endogenous endonuclease known as RNase H to cleave the RNA strand of a DNA-RNA duplex. In this study, we exploited the application of the allele-specific silencing approach by gapmer AON as a potential therapy for Collagen-VI-related congenital muscular dystrophy (COL6-CMD)...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28854256/peripheral-denervation-participates-in-heterotopic-ossification-in-a-spinal-cord-injury-model
#18
Charlotte Debaud, Marjorie Salga, Laurent Begot, Xavier Holy, Malha Chedik, Nicolas de l'Escalopier, Fréderic Torossian, Jean-Pierre Levesque, Jean-Jacques Lataillade, Marie-Caroline Le Bousse-Kerdilès, François Genêt
We previously reported the development of a new acquired neurogenic HO (NHO) mouse model, combining spinal cord transection (SCI) and chemical muscle injury. Pathological mechanisms responsible for ectopic osteogenesis after central neurological damage are still to be elucidated. In this study, we first hypothesized that peripheral nervous system (PNS) might convey pathological signals from injured spinal cord to muscles in NHO mouse model. Secondly, we sought to determine whether SCI could lead to intramuscular modifications of BMP2 signaling pathways...
2017: PloS One
https://www.readbyqxmd.com/read/28839183/trans-omics-approaches-used-to-characterise-fish-nutritional-biorhythms-in-leopard-coral-grouper-plectropomus-leopardus
#19
Miyuki Mekuchi, Kenji Sakata, Tomofumi Yamaguchi, Masahiko Koiso, Jun Kikuchi
Aquaculture is now a major supplier of fish, and has the potential to be a major source of protein in the future. Leopard coral groupers are traded in Asian markets as superior fish, and production via aquaculture has commenced. As feeding efficiency is of great concern in aquaculture, we sought to examine the metabolism of leopard coral groupers using trans-omics approaches. Metabolic mechanisms were comprehensively analysed using transcriptomic and metabolomic techniques. This study focused on the dynamics of muscular metabolites and gene expression...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28836095/selenoprotein-n-was-required-for-the-regulation-of-selenium-on-the-uterine-smooth-muscle-contraction-in-mice
#20
Jingxuan Zhou, Chengye Li, Gaoqin Gu, Qi Wang, Mengyao Guo
Selenium (Se) is an essential micronutrient affecting various aspects of health. The balance of the Se concentration has an important protective and promoter effect on physiological function in inducing muscular disorders in smooth muscle. Selenoprotein N (SelN) is closely related to Ca(2+) release. The present study aimed to determine the effects and mechanism of action of dietary Se on uterine smooth muscle contraction via SelN using a mouse model. Quantitative polymerase chain reaction (qPCR) analysis was performed to detect mRNA levels...
August 23, 2017: Biological Trace Element Research
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