Results 51 to 60 of about 125,113 (289)

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice [PDF]

, 2018
Fractures are a common comorbidity in children with the neural tube defect (NTD) spina bifida. Mutations in the Wnt/planar cell polarity (PCP) pathway contribute to NTDs in humans and mice, but whether this pathway independently determines bone mass is ...
A Kamalakar, A Trinh, AJ Copp, AJ Copp, AS Findlay, B Wang, BA Alman, C Cooper, C Hartmann, CF Davey, CH Chen, D Karasik, D Szklarczyk, DG Winkler, DJ Epstein, DM Juriloff, E Canalis, E Nikolopoulou, EM Curtis, GH Li, GL Galea, GL Galea, GL Galea, GL Galea, H Marreiros, H Yin, HF Zheng, IR Orriss, IR Orriss, JK Morris, JN Murdoch, K Estrada, KC Keller, KS Joeng, L D’Andrea, LJ Martin, LL Yates, LL Yates, M Akbar, M Kalogeropoulos, ME Ross, MJ Anderson, MJ Harris, MJ Harris, MR Dohn, NC Nowlan, P Andre, P Elms, P Ybot-Gonzalez, P Ybot-Gonzalez, R Klootwijk, R Xu, S Babayeva, S Li, S Maere, SA Brown, SE Taylor, SJ Conway, T Dodge, T Yang, UM Ayturk, V Martinelli, W Yang, Y Erdem, Y Koyabu, Y Lei, Z Kibar   +66 more
core   +3 more sources

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +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

A zinc transporter gene required for development of the nervous system. [PDF]

, 2013
The essentiality of zinc for normal brain development is well established. It has been suggested that primary and secondary zinc deficiencies can contribute to the occurrence of numerous human birth defects, including many involving the central nervous ...
Chowanadisai, Winyoo, Graham, David M, Keen, Carl L, Messerli, Mark A, Rucker, Robert B   +4 more
core   +1 more source

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

Epidemiology of neural tube defects in northern Iran, 1998-2003 [PDF]

, 2007
We determined the rates of neural tube defects at a referral hospital in Gorgan, north Islamic Republic of Iran, and the relations of these abnormalities to sex, maternal ethnicity, maternal age and season.
Golalipour, M.J., Keshtkar, A.A., Mobasheri, E., Vakili, M.A.   +3 more
core  

Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns [PDF]

, 2016
Folate is vital for fetal development. Periconceptional folic acid supplementation and food fortification are recommended to prevent neural tube defects.
Beckett, E. (Emma), Bohlin, J. (Jon), Dehghan, A. (Abbas), Dekker, H.T. (Herman) den, Duijts, L. (Liesbeth), Felix, J.F. (Janine), Franco, O.H. (Oscar), Hofman, A. (Albert), Håberg, S.E. (Siri E), Jaddoe, V.W.V. (Vincent), Jongste, J.C. (Johan) de, Joubert, B.R. (Bonnie), Kulle Andreassen, B. (Bettina), Ligthart, S. (Symen), London, S.J. (Stephanie J), Meurs, J.B.J. (Joyce) van, Midttun, . (Øivind), Nilsen, R.M. (Roy M.), Nystad, W. (Wenche), Peddada, S.D. (Shyamal D.), Peters, M.J. (Marjolein), Reese, S.E. (Sarah E.), Steegers, E.A.P. (Eric), Tiemeier, H.W. (Henning), Ueland, P.M. (Per), Uitterlinden, A.G. (André), Vollset, S.E. (Stein E.), Wang, T. (Tianyuan), Wu, M.C. (Michael)   +28 more
core   +1 more source

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