Results 191 to 200 of about 2,034,857 (344)

Sodium butyrate blocks interferon-gamma (IFN-γ)-induced biosynthesis of MHC class III gene products (complement C4 and factor B) in human fetal intestinal epithelial cells

, 1999
Kenji Kitamura, Akira Andoh, T Inoue, Y Amakata, Keiko Hodohara, Yoshihide Fujiyama, T Bamba   +6 more
openalex   +2 more sources

CSF cytokine, chemokine and injury biomarker profile of glial fibrillary acidic protein (GFAP) autoimmunity

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Defining the CSF cytokine/chemokine and injury biomarker signature of glial fibrillary acidic protein (GFAP) autoimmunity can inform immunopathogenesis. CSF GFAP‐IgG‐positive samples (N = 98) were tested for 17 cytokines/chemokines, neurofilament light chain (NfL), and GFAP (ELLA, Bio‐Techne).
Yahel Segal, Georgios Mangioris, Vanda Lennon, Binxia Yang, Divyanshu Dubey, Eoin P. Flanagan, Andrew McKeon, John R. Mills, Michel Toledano, Ivana Vodopivec, Sean J. Pittock, Anastasia Zekeridou   +11 more
wiley   +1 more source

In situ expression of complement C3 and factor B genes in normal colorectal mucosa, adenomas and carcinomas

, 1998
A Andoh, Yoshihide Fujiyama, H. Sakumoto, H. Uchihara, Tomo Kimura, T Bamba   +5 more
openalex   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Molecular Cloning of Apobec-1 Complementation Factor, a Novel RNA-Binding Protein Involved in the Editing of Apolipoprotein B mRNA

, 2000
Anuradha Mehta, Michael Kinter, Nicholas E. Sherman, Donna M. Driscoll   +3 more
openalex   +1 more source

Relapsing Fever SpirochetesBorrelia recurrentisandB. duttoniiAcquire Complement Regulators C4b-Binding Protein and Factor H [PDF]

, 2006
Taru Meri, S. J. Cutler, Anna M. Blom, Seppo Meri, T. Sakari Jokiranta   +4 more
openalex   +1 more source

Corrigendum: High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B [PDF]

, 2020
Richard B. Pouw, Irene Gómez Delgado, Alberto López‐Lera, Santiago Rodrı́guez de Córdoba, Diana Wouters, Taco W. Kuijpers, Pilar Sánchez‐Corral   +6 more
openalex   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome. [PDF]

Kidney Int, 2020
Zhang Y, Kremsdorf RA, Sperati CJ, Henriksen KJ, Mori M, Goodfellow RX, Pitcher GR, Benson CL, Borsa NG, Taylor RP, Nester CM, Smith RJH.   +11 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source