Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24207
Abstract: The pioneering discovery research of X‐linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately 30% of XLID families still remain unresolved. We postulated that noncoding variants that affect gene regulation or… read more here.
Keywords: noncoding variants; different types; intellectual disability; linked intellectual ... See more keywords
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.569
Abstract: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X‐linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3‐dependent Sonic Hedgehog (SHH) signaling pathway has been… read more here.
Keywords: intellectual disability; linked intellectual; med12; sonic hedgehog ... See more keywords
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation
Sign Up to like & getrecommendations! Published in 2018 at "Cell Reports"
DOI: 10.1016/j.celrep.2018.04.022
Abstract: 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. Here, we employ an embryonic… read more here.
Keywords: intellectual disability; activity; rnf12; linked intellectual ... See more keywords
Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13698
Abstract: Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in the X‐chromosome in these 28 years thanks to applying… read more here.
Keywords: intellectual disability; disability; current knowledge; non syndromic ... See more keywords
ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000159
Abstract: Mutations in more than 100 genes have been reported to cause X-linked intellectual disability (XLID), mainly in males. By contrast, the identified X-linked genes in which de novo mutations specifically cause ID in females are… read more here.
Keywords: intellectual disability; cause specific; arhgef9 mutations; mutations cause ... See more keywords
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.631428
Abstract: Background X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The OTUD5 gene at Xp11.23 encodes ovarian tumor… read more here.
Keywords: otud5; intellectual disability; variant; linked intellectual ... See more keywords
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.872407
Abstract: Early/late endosomes, recycling endosomes, and lysosomes together form the endo-lysosomal recycling pathway. This system plays a crucial role in cell differentiation and survival, and dysregulation of the endo-lysosomal system appears to be important in the… read more here.
Keywords: intellectual disability; disability epilepsy; linked intellectual; clcn4 variants ... See more keywords