Results 51 to 60 of about 343,621 (301)

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Impaired cardiac autonomic nervous control after cardiac bypass surgery for congenital heart disease

, 2009
We undertook a study to describe changes in heart rate variability (HRV) postoperatively in children undergoing cardiac bypass surgery for congenital heart disease (CHD).
McGlone, Laura, Financial Support Department of Cardiac Surgery and Cardiology, The Royal Hospital for Sick Children, Yorkhill, Glasgow (Funder), Patel, Neil, Danton, Mark D., , Financial Support Department of Cardiac Surgery and Cardiology,, Young, David   +5 more
core   +1 more source

CHARACTERISTICS OF STRUCTURAL CHANGES OF THE BRAIN IN PREMATURE CHILDREN WITH PRE- AND PERINATAL DAMAGE OF THE CENTRAL NERVOUS SYSTEM

Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, 2020
Objective: to establish specifc characteristics of structural changes in the brain in premature infants with pre- and perinatal damage to the nervous system.
Devyaltovskaya M. G.
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

Rehabilitation program in adult congenital heart disease patients with pulmonary hypertension

, 2010
Introduction. It is commonly believed that physical activity may have a negative impact on pulmonary hypertension patients. The object of this study is to determine the tolerability of a directed exercise program in congenital heart disease patients with
Miranda Calderín, Guillermo, Ugarte-Lopetegui, Arantza, Rodríguez-González, Fayna, Martínez Quintana, Efrén   +3 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. [PDF]

, 2021
INTRODUCTION Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy.
Jan Brands, Thomas Bilzer, Frank Steffen, Brands, Jan, Spennes, Jochen, Bilzer, Thomas, Leeb, Tosso, Tosso Leeb, Steffen, Frank, Jochen Spennes   +9 more
core   +1 more source

Unbalanced redox status network as an early pathological event in congenital cataracts

Redox Biology, 2023
The lens proteome undergoes dramatic composition changes during development and maturation. A defective developmental process leads to congenital cataracts that account for about 30% of cases of childhood blindness.
Eloy Bejarano, Elizabeth A. Whitcomb, Rebecca L. Pfeiffer, Kristie L. Rose, Maria José Asensio, José Antonio Rodríguez-Navarro, Alejandro Ponce-Mora, Antolín Canto, Inma Almansa, Kevin L. Schey, Bryan W. Jones, Allen Taylor, Sheldon Rowan   +12 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source