Results 61 to 70 of about 71,429 (285)

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

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Neural Development, 2020
Background Neural tube defects (NTDs) are failure of neural tube closure, which includes multiple central nervous system phenotypes. More than 300 mouse mutant strains exhibits NTDs phenotypes and give us some clues to establish association between ...
Jizhen Zou, Fang Wang, Xueyan Yang, Hongyan Wang, Lee Niswander, Ting Zhang, Huili Li   +6 more
doaj   +1 more source

Serum copper concentration in newborns with neural tube defects in northern Iran; A case control study [PDF]

, 2009
Objective: This study was conducted to determine the eventual association between copper deficiency in newborns with neural tube defects (NTD) in Northern Iran. A high prevalence of neural tube defects has been reported from this region.
Golalipour, M.-J., Keshtkar, A.-A., Mansourian, A.-R.   +2 more
core  

Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]

, 2019
Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan, Ji, Yu, McMahon, Moira, Reynolds, Kurt, Zhou, Chengji J   +4 more
core   +2 more sources

Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer, Marie Obrecht, Charlotte de Maeseneire, Charlotte Damien, Chantal Depondt, Lorenzo Ferlini, Estelle Rikir, Filippo Annoni, Fabio Silvio Taccone, Nicolas Mavroudakis, Benjamin Legros, Nicolas Gaspard   +11 more
wiley   +1 more source

Incidental per-operative findings of anterior sacral meningocele during pull-through operation for Hirschsprung disease: An extremely rare case

Medical Journal of Dr. D.Y. Patil University, 2017
Anterior sacral meningocele (ASM) and neural tube defect are well-known clinical entity. Hirschsprung's disease is rarely associated with ASM, but the association with anorectal malformation is common.
Md Hadiuzzaman, Biswanath Das, Dipak Ghosh, Koushik Saha   +3 more
doaj   +1 more source

Motor neuron-derived Thsd7a is essential for zebrafish vascular development via the Notch-dll4 signaling pathway. [PDF]

, 2016
BackgroundDevelopment of neural and vascular systems displays astonishing similarities among vertebrates. This parallelism is under a precise control of complex guidance signals and neurovascular interactions.
Chuang, Yung-Jen, Huang, Yi-Ching, Jao, Li-En, Jiang, Jie-Peng, Lai, Zih-Yin, Lin, Min-Hsuan, Liu, Lawrence Yu-Min   +6 more
core   +2 more sources

Additive Manufacturing of Continuous Fibre Reinforced Composites: Process, Characterisation, Modelling, and Sustainability

Advanced Engineering Materials, EarlyView.
Additive manufacturing provides precise control over the placement of continuous fibres within polymer matrices, enabling customised mechanical performance in composite components. This article explores processing strategies, mechanical testing, and modelling approaches for additive manufactured continuous fibre‐reinforced composites.
Cherian Thomas, Amir Hosein Sakhaei
wiley   +1 more source