Results 151 to 160 of about 367,967 (298)

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

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, EarlyView.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +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

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

Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration [PDF]

, 2007
Kylee L. Spencer, Michael A. Hauser, Lana M. Olson, Silke Schmidt, William K. Scott, Paul J. Gallins, Anita Agarwal, Eric A. Postel, Margaret A. Pericak‐Vance, Jonathan L. Haines   +9 more
openalex   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Toxoplasma Infection Induces Sustained Up-Regulation of Complement Factor B and C5a Receptor in the Mouse Brain via Microglial Activation: Implication for the Alternative Complement Pathway Activation and Anaphylatoxin Signaling in Cerebral Toxoplasmosis. [PDF]

Front Immunol, 2020
Shinjyo N, Hikosaka K, Kido Y, Yoshida H, Norose K.   +4 more
europepmc   +1 more source

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk [PDF]

, 2011
Meike Heurich, Rubén Martínez-Barricarte, Nigel J. Francis, Dawn Roberts, Santiago Rodrı́guez de Córdoba, B. Paul Morgan, Claire L. Harris   +6 more
openalex   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

Synthesis of Complement Components C3 and Factor B in Human Keratinocytes is Differentially Regulated by Cytokines

, 2000
Marcel C. Pasch, Norbert H.A. van den Bosch, Jan D. Bos, Syed S. Asghar, Mohamed R. Daha   +4 more
openalex   +1 more source