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Rosemary Thwaite et al.
Fish & shellfish immunology, 99, 578-586 (2020-02-28)
Nervous necrosis virus (NNV) reassortant strains RGNNV/SJNNV have emerged as a potent threat to the Mediterranean marine aquaculture industry, causing viral encephalopathy and retinopathy (VER) in Senegalese sole (Solea senegalensis). In this study, a cheap and practical vaccine strategy using
Mira Kharbanda et al.
European journal of medical genetics, 60(5), 233-238 (2017-03-03)
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4
Yi Dai et al.
Neuromuscular disorders : NMD, 25(8), 617-624 (2015-05-20)
Muscular dystrophies and congenital myopathies are a large group of heterogeneous inherited muscle disorders. The spectrum of muscular dystrophies and congenital myopathies extends to more than 50 diseases today, even excluding the common forms Duchenne Muscular Dystrophy, Myotonic Dystrophy and
Synthetic Communications, 9, 301-301 (1979)
Angharad M Roberts et al.
Science translational medicine, 7(270), 270ra6-270ra6 (2015-01-16)
The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM) promises new prospects for improving heart failure management. However, realization
Dong Li et al.
Life sciences, 216, 259-270 (2018-11-19)
Colorectal Cancer (CRC) accounts for 6.1% incidence and 9.2% mortality worldwide. The current study aimed to investigate the effect of alpinumisoflavone (AIF) on CRC and its possible molecular mechanism. HCT-116 and SW480 cells were chosen as cell model to study
Bettina Eide Holm et al.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica, 123(2), 136-145 (2014-12-04)
In this study, polyclonal and monoclonal antibodies to native and denatured chicken ovalbumin (OVA) were produced to compare their dependency on continuous and three-dimensional epitopes. These antibodies were characterized with respect to reactivity to native and denatured OVA by enzyme-linked
Marta Gigli et al.
Journal of the American College of Cardiology, 74(11), 1480-1490 (2019-09-14)
Genotype-phenotype correlations in dilated cardiomyopathy (DCM) and, in particular, the effects of gene variants on clinical outcomes remain poorly understood. The purpose of this study was to investigate the prognostic role of genetic variant carrier status in a large cohort
Alessandro Bertero et al.
Nature communications, 10(1), 1538-1538 (2019-04-06)
Functional changes in spatial genome organization during human development are poorly understood. Here we report a comprehensive profile of nuclear dynamics during human cardiogenesis from pluripotent stem cells by integrating Hi-C, RNA-seq and ATAC-seq. While chromatin accessibility and gene expression
Lamis Yehia et al.
NPJ genomic medicine, 2, 37-37 (2017-12-22)
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder classically characterized by macrocephaly in combination with intestinal hamartomatous polyposis, vascular malformations, lipomas, and genital lentiginosis. Germline
Tetrahedron Letters, 1827-1827 (1977)
Rebecca J Zaunbrecher et al.
Circulation, 140(20), 1647-1660 (2019-10-08)
The giant sarcomere protein titin is important in both heart health and disease. Mutations in the gene encoding for titin (TTN) are the leading known cause of familial dilated cardiomyopathy. The uneven distribution of these mutations within TTN motivated us
Enrico Bugiardini et al.
Frontiers in neurology, 9, 456-456 (2018-07-13)
Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application. Methods: We retrospectively audited the diagnostic workup in
Seung Hoan Choi et al.
JAMA, 320(22), 2354-2364 (2018-12-12)
Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood. To perform large-scale whole-genome sequencing to identify genetic variants
Kevin Yauy et al.
The Journal of molecular diagnostics : JMD, 20(4), 465-473 (2018-04-25)
Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants identified in large genes, especially TTN; current in silico prediction tools show limitations
Hyung Jun Park et al.
Neuromuscular disorders : NMD, 27(5), 465-472 (2017-03-08)
To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We
Borislav H Hristov et al.
Cell systems, 5(3), 221-229 (2017-09-29)
A central goal in cancer genomics is to identify the somatic alterations that underpin tumor initiation and progression. While commonly mutated cancer genes are readily identifiable, those that are rarely mutated across samples are difficult to distinguish from the large
Thakkar, K.; Cushman, M.
The Journal of Organic Chemistry, 60, 6499-6499 (1995)
Ji Liu et al.
Biotechnology and bioengineering, 116(3), 536-542 (2018-12-12)
Alcohol dehydrogenase (ADH) and amine dehydrogenase (AmDH)-catalyzed one-pot cascade conversion of an alcohol to an amine provides a simple preparation of chiral amines. To enhance the cofactor recycling in this reaction, we report a new concept of coupling whole-cells with
Sönke Detlefsen et al.
Medicine, 97(31), e11641-e11641 (2018-08-05)
The diagnosis of autoimmune pancreatitis (AIP) and its differential diagnosis from pancreatic cancer (PC) can be challenging. In this retrospective study, we aimed to evaluate the value of anti-plasminogen binding peptide (a-PBP), immunoglobulin G4 (IgG4), and anti-carbonic anhydrase-II (a-CA-II), together
Luis R Lopes et al.
Heart (British Cardiac Society), 101(4), 294-301 (2014-10-30)
A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene
Oscar Campuzano et al.
International journal of molecular sciences, 16(10), 25773-25787 (2015-10-31)
A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis of genes associated with this entity, including, most recently, titin. We aimed to identify potentially
Daragh Finn et al.
Archives of disease in childhood. Fetal and neonatal edition, 103(5), F417-F421 (2017-10-04)
To determine respiratory rate (RR), tidal volume (TV) and end-tidal carbon dioxide (EtCO2) values in full-term infants immediately after caesarean section, and to assess whether infants that develop transient tachypnoea of the newborn (TTN) follow the same physiological patterns. A
Yonghua Wang et al.
International journal of cancer, 145(5), 1280-1289 (2019-04-30)
Penile squamous cell carcinoma (PSCC) is a malignancy that affects the skin and tissues of the penis, but the knowledge of pathogenesis and carcinogenesis is limited. Here, we characterize the PSCC genomic landscape using whole-exome sequencing. Of the 30 paired
Pavel Kocovský et al.
The Journal of organic chemistry, 64(1), 101-119 (2001-10-25)
Nonlinear triquinane-type building blocks have been synthesized using three strategic steps, namely, (1) Hg(2+)-mediated opening of a cyclopropane ring involving a skeletal rearrangement (3 --> 8), (2) an intramolecular organometallic addition across a C=O bond triggered by activation of the
Muhammad Arshad Rafiq et al.
American journal of medical genetics. Part A, 173(3), 699-705 (2017-02-18)
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected
Ferraz, H.M.C. Silva, L.F., Jr.
The Journal of Organic Chemistry, 63, 1716-1716 (1998)
Akinori Uruha et al.
Journal of neurology, neurosurgery, and psychiatry, 86(5), 483-489 (2014-09-26)
In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs) are often localised in subsarcolemmal regions, with necklace-like alignment (necklace CBs), in muscle fibres although their sensitivity and specificity are unknown. To elucidate the diagnostic value of the necklace
Mathieu Cerino et al.
Muscle & nerve, 56(5), 993-997 (2017-03-04)
Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most
Journal of the American Chemical Society, 98, 3037-3037 (1976)
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