Results 81 to 90 of about 1,572,926 (319)

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
core   +1 more source

Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families [PDF]

, 2008
Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema.
Link, Jenny, Lee, Simon P., Lieden, Agne, M D'Amato, Ekelund, Elisabeth, Kockum, Ingrid, SP Lee, D'Amato, Mauro, I Kockum, CNA Palmer, Bradley, Maria, A Liedén, E Ekelund, J Link, M Bradley, Palmer, Colin N. A.; id_orcid   +15 more
core   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Delta and the Variants [PDF]

Air Medical Journal, 2022
Suresh, Mithun R., Dries, David J.
openaire   +2 more sources

Therapeutic Apheresis for Intravenous Methylprednisolone‐Refractory Neuromyelitis Optica Spectrum Disorder: Clinical and Radiological Outcomes in a Single‐Center Case Series

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease of the central nervous system. High‐dose intravenous methylprednisolone (IVMP) is the standard first‐line therapy for acute attacks, although some patients remain refractory.
Wataru Horiguchi, Daisuke Katagiri, Takeyuki Watadani, Shunichi Matsuda, Hiroshi Kaneko, Noritoshi Arai   +5 more
wiley   +1 more source

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population [PDF]

, 2008
Background Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this
Barnett Anthony H, Barnett, Anthony, Britten, Abigail C., Bellary, S, Barnett, Anthony H., Anthony H Barnett, Kumar Sudhesh, Britten, Abigail, Sudhesh Kumar, Rees, Simon D., Rees, Simon, Kelly, M. Ann, Kelly, Marilyn, Britten Abigail C, Kelly M Ann, Bellary, Srikanth, Rees Simon D, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Bellary Srikanth, O'Hare, JP, Kumar, Sudhesh, Simon D Rees, Barnett, A. H., O'Hare J Paul, Kumar, S, O'Hare, J. Paul, M Ann Kelly   +28 more
core   +1 more source

Dietary Protein Intake and Peritoneal Protein Losses in Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) patients lose protein in their waste dialysate, potentially increasing their risk for malnutrition. We wished to determine whether there was any association between losses and dietary protein intake (DPI). Methods DPI was assessed from 24‐h dietary recall using Nutrics software.
Haalah Shaaker, Andrew Davenport
wiley   +1 more source

Effects of the Fluid Replacement Method During Online Hemodiafiltration on the Solute Removal Performance and Biocompatibility Using the Asymmetric Cellulose Triacetate Membrane

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Pre‐dilution online hemodiafiltration (Pre‐HDF) is predominantly used in Japan, whereas post‐dilution online HDF (Post‐HDF) is more common in Europe. An asymmetric cellulose triacetate (ATA) membrane may improve biocompatibility.
Kenji Sakurai, Yoshitaka Kurihara, Fumi Yamauchi, Hiromi Hosoya, Takeshi Saito   +4 more
wiley   +1 more source

rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants. [PDF]

, 2007
The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with
Folwaczny, Christian, Seiderer Julia, Ochsenkühn, Thomas, Klein, Wolfram, Griga Thomas, Schiemann Uwe, Folwaczny Matthias, Tonenchi, Laurian, Matthias Folwaczny, Bertram Müller-Myhsok, Schmechel, Silke, Jörg T Epplen, Epplen Jörg T., Jörg T. Epplen, Mussack, Thomas, Schiemann, Uwe, Pfennig Simone, Kerstin Maier, Brand, Stephan, Brand Stephan, Thomas Ochsenkühn, Török, Helga-Paula, Epplen, Jörg T., Thomas Griga, Konrad, Astrid, Müller-Myhsok Bertram, Astrid Konrad, Göke, Burkhard, Konrad Astrid, Wetzke Martin, Schmechel Silke, Epplen, Jörg T, Griga, Thomas, Folwaczny, Matthias, Pfennig, Simone, Peter Lohse, Folwaczny Christian, Seiderer, Julia, Török Helga-Paula, Julia Dambacher, Uwe Schiemann, Glas, Jürgen, Mussack Thomas, Silke Schmechel, Ochsenkühn Thomas, Grassl, Christine, Müller-Myhsok, Bertram, Tonenchi Laurian, Christian Folwaczny, Martin Wetzke, Dambacher Julia, Burkhard Göke, Helga-Paula Török, Göke Burkhard, Stephan Brand, Maier Kerstin, Dambacher, Julia, Jürgen Glas, Maier, Kerstin, Klein Wolfram, Wetzke, Martin, Laurian Tonenchi, Christine Grassl, Lohse, Peter, Thomas Mussack, Simone Pfennig, Wolfram Klein, Glas Jürgen, Lohse Peter, Julia Seiderer, Grassl Christine   +70 more
core   +1 more source

Hemagglutinating and fusogenic activities of Newcastle disease virus: studies on receptor binding specificity and pH-induced conformational changes

Memorias do Instituto Oswaldo Cruz, 1995
Vaccinal and wild strains of Newcastle Disease virus (NDV) were analyzed for cell receptor binding and fusogenic biological properties associated with their HN (hemagglutinin-neuraminidase) and F (fusion protein) surface structures respectively.
E. S. S. Couceiro, J. N. S. S. Couceiro, M. C. Cabral   +2 more
doaj   +1 more source