Results 171 to 180 of about 6,900,738 (371)

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

Beta 1 isoform-specific regulation of a triiodothyronine-induced gene during cerebellar development. [PDF]

, 1992
Kevin A. Strait, Lanling Zou, Jack H. Oppenheimer   +2 more
openalex   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, M. Scoto, A. Sarkozy, P. Munot, S. Robb, E. Chan, V. Robinson, W. Girshab, V. Crook, E. Milev, L. Abbott, A. Wolfe, E. O’Reilly, J. Watts‐Whent, N. Burnett, R. Thomas, R. Terespolsky, O. Martinaeu, J. Longatto, V. Straub, C. Bettolo, M. Guglieri, J. Diaz‐Manera, G. Tasca, M. Elseed, R. Muni‐Lofra, M. James, D. Moat, J. Sodhi, K. Wong, E. Robinson, E. Groves, R. Rabb, D. Parasuraman, H. McMurchie, H. Chase, Tracey Willis, C. Rylance, N. Birchall, E. Wright, A. Childs, K. Pysden, C. Martos, D. Roberts, L. Pallant, S. Walker, A. Henderson, R. Madhu, R. Karuvattil, Y. Balla, S. Gregson, S. Clark, E. Wraige, H. Jungbluth, V. Gowda, M. Vanegas, J. Sheehan, A. Schofield, C. Smith, I. Hughes, E. Whitehouse, S. Warner, E. Reading, N. Emery, J. Moustoukas, K. Strachan, M. Ong, M. Atherton, N. Mills, S. Sanchez Marco, A. Saxena, K. Skone, J. TeWaterNaude, H. Davis, C. Wood, A. Majumdar, A. Murugan, I. Guarino, R. Tomlinson, H. Jarvis, L. Wills, C. Frimpong, J. Watson, G. Cobb, G. Robertson, P. Brink, J. Burslem, C. Adams, J. Wong, S. Joseph, I. Horrocks, J. Dunne, M. DiMarco, S. Brown, S. McKenzie, K. Torne, R. Mohamed, V. Velmurugan, M. Prasad, S. Sedehizadeh, A. Schugal, R. Keetley, S. Williamson, K. Payne, E. Dowling, P. Fenty, C. de Goede, A. Parkes, K. Baxter, M. Illingworth, N. Bhangu, S. Geary, J. Palmer, K. Shill, S. Tirupathi, A. Shah, D. O’Donogue, J. McVeigh, J. McFetridge, G. Nicfhirleinn, H. Beattie, T. Leyland, K. Stevenson, N. Hussain, D. Baskaran, Z. Lambat, R. Sullivan, L. Locke, G. Ambegaonkar, D. Krishnakumar, J. Taylor, J. Moores, E. Stephen, J. Tewnion, S. Ramdas, M. Sa, A. Skippen, M. Khries, C. Lilien, H. Ramjattan, F. Taylor, H. English, K. Stewart, F. Flint, E. Bartram, R. Noble, Francesco Muntoni   +152 more
wiley   +1 more source

Multigene family isoform profiling from blood cell lineages

BMC Genomics, 2002
Background Analysis of cell-selective gene expression for families of proteins of therapeutic interest is crucial when deducing the influence of genes upon complex traits and disease susceptibility.
Bradding Peter, Conley Edward C, Dewson Grant   +2 more
doaj   +1 more source

An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. [PDF]

, 1993
John G. Conboy, Joel Anne Chasis, R Winardi, Gil Tchernia, Yuet Wai Kan, Narla Mohandas   +5 more
openalex   +1 more source

Microphysiological Glomerular Filtration Barriers: Current Insights, Innovations, and Future Applications

Advanced Biology, EarlyView.
The glomerular filtration barrier (GFB) is the first step of blood filtration by the kidneys. The concerning increase of kidney diseases makes the development of new models essential. In this context, microphysiological glomerular filtration barriers focus on closely reproducing the physiological architecture of the in vivo GFB: podocytes, glomerular ...
Manon Miran, Kieu Ngo, David Buob, Hanna Debiec, Pierre Ronco, Guillaume Perry   +5 more
wiley   +1 more source

Biologically‐Inspired Melt Electrowriting for the Generation of Highly Biomimetic Functional Myocardium

Advanced Functional Materials, EarlyView.
In this work, melt electrowriting is used to fabricate a 3D printed scaffold design that generates engineered cardiac tissues with in‐plane contraction, mimicking natural myocardium. It is shown that these tissues display advanced maturation and functionality.
Olalla Iglesias‐García, María Flandes‐Iparraguirre, Pilar Montero‐Calle, Ricardo M. Rosales, Asier Ullate‐Agote, Andrea Sánchez‐Bueno, Eduardo Larequi, Ilazki Anaut‐Lusar, Nicolás Laita, Aida Oliván‐Viguera, Elena Iglesias, Gloria Abizanda, Patxi San Martín‐Úriz, Paula Aguirre‐Ruiz, Xabier L. Aranguren, Manuel García de Yébenes, Juan José Gavira, Miguel Ángel Martínez, Estefanía Peña, Manuel Doblaré, Elena M. de‐Juan‐Pardo, Esther Pueyo, Felipe Prosper, Manuel M. Mazo Vega   +23 more
wiley   +1 more source

Cloning of an isoform of mouse TGF‐β type II receptor gene [PDF]

, 1994
Atsushi Suzuki, Noriko Shioda, Toshihiko Maeda, Masazumi Tada, Naoto Ueno   +4 more
openalex   +1 more source

Electric Pulse Regulated MXene Based Nanozymes for Integrative Bioelectricity Immuno‐Cancer Therapy

Advanced Functional Materials, EarlyView.
MXenzyme‐mediated bioelectricity cancer therapy (MXenzyme‐BECT) enhances cancer cell death through irreversible depolarization, ion channel disruption, ROS generation, and immunogenic cell death. Computational simulations reveal the electrical mechanisms by which MXenzyme acts on single cells and support to predict treatment parameters. Next‐generation
Sanghee Lee, Seongchan Kim, Eui‐Sang Yu, Sian Lee, Min Jun Ko, Hyojin Lee, Dong‐Hyun Kim   +6 more
wiley   +1 more source

Structural organization of the bovine gene for the heart/muscle isoform of cytochrome c oxidase subunit VIa [PDF]

, 1993
Ellen O. Smith, Margaret I. Lomax
openalex   +1 more source