Results 11 to 20 of about 43,167 (288)

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation [PDF]

Cell Reports, 2018
Summary: X-linked intellectual disability (XLID) is a heterogeneous syndrome affecting mainly males. Human genetics has identified >100 XLID genes, although the molecular and developmental mechanisms underpinning this disorder remain unclear.
Francisco Bustos, Anna Segarra-Fas, Viduth K. Chaugule, Lennart Brandenburg, Emma Branigan, Rachel Toth, Thomas Macartney, Axel Knebel, Ronald T. Hay, Helen Walden, Greg M. Findlay   +10 more
doaj   +2 more sources

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2019
O-GlcNAc transferase (OGT) is an X-linked gene product that is essential for normal development of the vertebrate embryo. It catalyses the O-GlcNAc posttranslational modification of nucleocytoplasmic proteins and proteolytic maturation of the ...
Veronica M Pravata, Villő Muha, Andrew T Ferenbach   +2 more
exaly   +4 more sources

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature [PDF]

BMC Medical Genomics, 2023
Aim and Objective Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 ...
Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri, Mohammad Amin Tabatabaiefar   +6 more
doaj   +2 more sources

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

BMC Medical Genomics, 2018
Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing.
Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch   +4 more
doaj   +2 more sources

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms [PDF]

Life Science Alliance
This study uncovers mechanisms by which X-linked intellectual disability disorder 105 (#300984; OMIM) variants alter USP27X biology and function. Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases ...
Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, MEH Simon, APA Stegmann, Maria J Guillen Sacoto, Marijke Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel   +28 more
doaj   +2 more sources

The X-Linked Intellectual Disability Gene Zdhhc9 Is Essential for Dendrite Outgrowth and Inhibitory Synapse Formation

Cell Reports, 2019
Summary: Palmitoylation is a reversible post-translational lipid modification that facilitates vesicular transport and subcellular localization of modified proteins.
Jordan J. Shimell, Bhavin S. Shah, Stuart M. Cain, Samrat Thouta, Naila Kuhlmann, Igor Tatarnikov, D. Blair Jovellar, G. Stefano Brigidi, Jennifer Kass, Austen J. Milnerwood, Terrance P. Snutch, Shernaz X. Bamji   +11 more
doaj   +3 more sources

The X-linked intellectual disability gene CUL4B is critical for memory and synaptic function [PDF]

Acta Neuropathologica Communications
Cullin 4B (CUL4B) is the scaffold protein in the CUL4B-RING E3 ubiquitin ligase (CRL4B) complex. Loss-of-function mutations in the human CUL4B gene lead to syndromic X-linked intellectual disability (XLID).
Wei Jiang, Jian Zhang, Molin Wang, Yongxin Zou, Qiao Liu, Yu Song, Gongping Sun, Yaoqin Gong, Fan Zhang, Baichun Jiang   +9 more
doaj   +2 more sources

X-linked intellectual disability [PDF]

, 2013
The intellectual disability is found in approximately 2-3% of the population in a mild-to-moderate form and 0.5-1% in a moderate-to-severe form. The mutations on the chromosome X are responsible for both syndromic and non-syndromic intellectual disability. In the syndromic forms behavioral disorders, autism and/or seizures are frequent.
PICCIONE, Maria, Antona, V., Graziano, L., Consiglio, V., Salzano, E., VECCHIO, Davide, Lauricella, S., CORSELLO, Giovanni   +7 more
openaire   +2 more sources

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability [PDF]

Genes, 2020
Nekane Ibarluzea, Isabel Llano, Itxaso Marti   +2 more
exaly   +2 more sources

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

Frontiers in Genetics, 2023
The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual ...
Karin Writzl, Karin Writzl, Blaž Mavčič, Blaž Mavčič, Aleš Maver, Aleš Maver, Alenka Hodžić, Borut Peterlin   +7 more
doaj   +1 more source