Mutations in the Schmallenberg virus Gc glycoprotein facilitate cellular protein synthesis shutoff and restore pathogenicity of NSs deletion mutants in mice [PDF]
, 2016 Serial passage of viruses in cell culture has been traditionally used to attenuate virulence and identify determinants of viral pathogenesis. In a previous study, we found that a strain of Schmallenberg virus (SBV) serially passaged in tissue culture ...
Aislynn Taggart +13 more
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Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
Clinical Case ReportsKey Clinical Message This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)‐associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal ...
Rahiya Rehman +5 more
doaj +1 more source
Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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Journal of Clinical and Diagnostic ResearchCarmi Syndrome (CS) is an extremely rare autosomal recessive genetic disorder characterised by the co-existence of Junctional Epidermolysis Bullosa (JEB), Pyloric Atresia (PA), and Aplasia Cutis Congenita (ACC).
Samuel Jeyaraj Daniel +3 more
doaj +1 more source
COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature
Molecular Genetics & Genomic MedicineBackground CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated.
Sarah Guterman +17 more
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Termination of pregnancy for fetal anomaly after 23 weeks of gestation: a European register-based study. [PDF]
Objective To determine the prevalence of termination of pregnancy for fetal anomaly (TOPFA) after 23 weeks of gestation in European countries, and describe the spectrum of anomalies for which late TOPFA is recorded. Design Population-based study. Setting
Addor, Marie-Claude +20 more
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Molecular mechanisms of the regulation of ATPase cycle in striated muscle [PDF]
, 2007 New data on the molecular mechanism of the regulation of ATPase cycle by troponin-tropomyosin system have been obtained in reconstructed muscle fibers by using the polarized fluorescence technique, which allowed us following the azimuthal movements of ...
Charles S. Redwood +2 more
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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. [PDF]
, 2018 Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care ...
Bjonnes, Andrew +47 more
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A veleszületett dongaláb pathogenezisének kutatása [PDF]
, 2006 A SE Orthopédiai Klinikán 1998 és 2002 között 29 műtétre került idiopathiás és 15 AMC-s dongalábas gyermekből vettünk biopsziás ideg és izommintákat. Betegenként átlag 3 izommintavétel történt. Összesen 102 izmot és 34 n.
Balla, Mária +5 more
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Revista Colombiana de Obstetricia y Ginecología, 2009 Introducción: la artrogriposis múltiple congénita es un grupo de desórdenes musculoesqueléticos de muy rara aparición, caracterizados por contracturas múltiples articulares, en los que se afectan los músculos de los miembros superiores, inferiores y del ...
Felipe Ruiz-Botero +3 more
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