Results 51 to 60 of about 45,554 (278)

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Journal of Biological Chemistry, 2018
It is estimated that ∼1% of the world's population has intellectual disability, with males affected more often than females. OGT is an X-linked gene encoding for the enzyme O-GlcNAc transferase (OGT), which carries out the reversible addition of N ...
N. Selvan, Stephan N. George, F. Serajee, M. Shaw, Lynne Hobson, V. Kalscheuer, Nripesh Prasad, S. Levy, Juliet Taylor, S. Aftimos, C. Schwartz, A. Huq, J. Gécz, L. Wells   +13 more
semanticscholar   +1 more source

Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders

Cells, 2022
The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domain, PSD-95/Dlg-A/
Hidenori Ito, Koh-ichi Nagata
doaj   +1 more source

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings

Neurology International
Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated
Michele Minerva, Lorenzo Perilli, Samanta Carbone, Margherita Maria Rossi, Federica Lotti, Luisa Lonoce, Maria Rosaria Curcio, Salvatore Grosso   +7 more
doaj   +1 more source

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID and Fragile X syndrome

Frontiers in Cellular Neuroscience, 2013
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a
Wei-Hong eSiew, Wei-Hong eSiew, Kai-Leng eTan, Kai-Leng eTan, Maryam eAbbaspour Babaei, Maryam eAbbaspour Babaei, Pike-See eCheah, Pike-See eCheah, King-Hwa eLing, King-Hwa eLing   +9 more
doaj   +1 more source

Malformations among the X‐linked intellectual disability syndromes [PDF]

American Journal of Medical Genetics Part A, 2013
AbstractMalformations are significant contributions to childhood mortality and disability. Their co‐occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes ...
Roger E, Stevenson, Charles E, Schwartz, R Curtis, Rogers   +2 more
openaire   +2 more sources

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

European Journal of Human Genetics, 2017
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay ...
S. Moortgat, S. Berland, I. Aukrust, I. Maystadt, L. Baker, V. Benoit, A. Caro-Llopis, N. Cooper, F. Debray, L. Faivre, T. Gardeitchik, B. Haukanes, G. Houge, E. Kivuva, F. Martínez, S. Mehta, M. Nassogne, N. Powell-Hamilton, R. Pfundt, M. Roselló, T. Prescott, P. Vasudevan, B. van Loon, C. Verellen‐Dumoulin, A. Verloes, C. Lippe, E. Wakeling, A. Wilkie, L. Wilson, A. Yuen, D. Study, K. Low, R. Newbury-Ecob   +32 more
semanticscholar   +1 more source

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. [PDF]

PLoS ONE, 2017
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and ...
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott   +8 more
doaj   +1 more source

Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis

Frontiers in Genetics, 2022
Background: Genetic causes in most affected children with intellectual disability and/or development delay remain unknown.Methods: To identify potential variants responsible for these disorders, we recruited 161 affected families and performed whole ...
Tao Cai, Tao Cai, Jieting Huang, Jieting Huang, Xiuwei Ma, Siqi Hu, Siqi Hu, Lina Zhu, Jinwen Zhu, Zhichun Feng, Zhichun Feng, Zhichun Feng   +11 more
doaj   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang, Chengsong Yue, Zhuang Li, Xiaolei Shi, Haoxuan Zhu, Jie Yang, Linyu Li, Jiaxing Song, Shitao Fan, Gaoming Li, Wenzhe Sun, Zhixian Ye, Jiacheng Huang, Dahong Yang, Jinfu Ma, Xu Xu, Zhixi Wang, Lilan Wang, Guojian Liu, Fengli Li, Changwei Guo, Li Qi, Wenjie Zi   +22 more
wiley   +1 more source