Results 11 to 20 of about 8,409,709 (279)

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

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 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

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

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

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
Isabel Llano-Rivas, Elisabeth Gabau, Blanca Gener   +2 more
exaly   +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
Veronica M Pravata, Daan van Aalten, Andrew Ferenbach   +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

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients

Frontiers in Molecular Neuroscience, 2022
AimDe novo DDX3X variants account for 1–3% of unexplained intellectual disability cases in females and very rarely in males. Yet, the clinical and genetic features of DDX3X neurodevelopmental disorder in the Chinese cohort have not been characterized ...
Yuwei Dai, Yuwei Dai, Zhuanyi Yang, Jialing Guo, Jialing Guo, Haoyu Li, Haoyu Li, Jiaoe Gong, Yuanyuan Xie, Yuanyuan Xie, Bo Xiao, Bo Xiao, Hua Wang, Hua Wang, Lili Long, Lili Long, Lili Long   +16 more
doaj   +1 more source

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31 [PDF]

Journal of Clinical Medicine, 2020
Ilkeun Kong, Modibo Sangaré, Cheol-Hee Kim   +2 more
exaly   +2 more sources