نتایج جستجو برای: which cause
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Hantaviruses replicate primarily in the vascular endothelium and cause two human diseases, hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome (HPS). In this report, we demonstrate that the cellular entry of HFRS-associated hantaviruses is facilitated by specific integrins expressed on platelets, endothelial cells, and macrophages. Infection of human umbilical vein en...
Jonathan L. Levinsohn1, Li C. Tian1, Lynn M. Boyden2, Jennifer M. McNiff1, Deepak Narayan3, Erin S. Loring2, Duri Yun4, Jeffrey L. Sugarman5, John D. Overton2,6, Shrikant M. Mane2,6, Richard P. Lifton2,6,7, Amy S. Paller4, Annette M. Wagner4, Richard J. Antaya1,8, and Keith A. Choate1 1Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 2Department of Genetics,...
AIM To identify those agents reported as being associated with reactive airways dysfunction syndrome (RADS). METHODS A systematic review was undertaken. Abstracts were screened and those selected reviewed against pre-determined diagnostic criteria for RADS. RESULTS Significant information gaps were identified for all measures of interest. In some articles, even the causative agent was not r...
Myosin VIIs provide motor function for a wide range of eukaryotic processes. We demonstrate that mutations in crinkled (ck) disrupt the Drosophila myosin VIIA heavy chain. The ck/myoVIIA protein is present at a low level throughout fly development and at the same level in heads, thoraxes, and abdomens. Severe ck alleles, likely to be molecular nulls, die as embryos or larvae, but all allelic co...
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyp...
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