Results 81 to 90 of about 45,554 (278)

The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division

Cell Reports, 2016
Mid1 and Mid2 are ubiquitin ligases that regulate microtubule dynamics and whose mutation is associated with X-linked developmental disorders. We show that astrin, a microtubule-organizing protein, co-purifies with Mid1 and Mid2, has an overlapping ...
Ankur A. Gholkar, Silvia Senese, Yu-Chen Lo, Edmundo Vides, Ely Contreras, Emmanuelle Hodara, Joseph Capri, Julian P. Whitelegge, Jorge Z. Torres   +8 more
doaj   +1 more source

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

Molecular Genetics & Genomic Medicine, 2022
Background X‐linked mental retardation‐hypotonic facies syndrome‐1 (MRXFH1), caused by a mutation in the ATRX gene, is a rare syndromic form of X‐linked mental retardation (XLMR) that is mainly characterized by severe intellectual disability, dysmorphic ...
Fatemeh Shakarami, Mehdi Jahani, Zahra Nouri, Mohammad Amin Tabatabaiefar   +3 more
doaj   +1 more source

Aberrant SUMOylation Restricts the Targetable Cancer Immunopeptidome

Advanced Science, EarlyView.
Pharmacological SUMOylation inhibition (SUMOi) counteracts tumor immune evasion by unmasking an immunogenic HLA‐I peptide and neoepitope repertoire. By restoring HLA‐I ligand availability through increased antigen processing and presentation, enhanced proteasomal cleavage, and modulated TAP1 peptide affinity, SUMOi boosts tumor immunogenicity ...
Uta M. Demel, Anna Meurer, Badeel Kh. Q. Zaghla, Bilge Atay, Daniel Steiert, Luca V. Hummel, Konstandina Isaakidis, Chuanbing Zang, Michael Korenkov, Marlon Schielin, Schayan Yousefian, Shima Mecklenbräuker, Marieluise Kirchner, Simon Haas, Antonia Busse, Philipp Mertins, Stefan Müller, Matthias Wirth, Martin G. Klatt, Ulrich Keller   +19 more
wiley   +1 more source

Neuid: A Novel Neuron‐Enriched LncRNA that Connects Epigenetic Gene Silencing to Alzheimer's Disease

Advanced Science, EarlyView.
ABSTRACT The increasing evidence that non‐coding RNAs can become deregulated during pathogenesis is dramatically expanding the space for drug discovery beyond the protein‐coding genome. Long noncoding RNAs (lncRNAs) are emerging as key regulators of cellular function, yet most remain uncharacterized.
Ranjit Pradhan, Zorica Petrovic, M. Sadman Sakib, Sophie Schröder, Dennis Manfred Krüger, Tonatiuh Pena, Eren Diniz, Susanne Burkhardt, Anna‐Lena Schütz, Verena Gisa, Iga Grzadzielewska, Karl Toischer, Thor D. Stein, Jan Krzysztof Blusztajn, Ivana Delalle, Jelena Radulovic, Farahnaz Sananbenesi, Andre Fischer   +17 more
wiley   +1 more source

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

PLoS ONE, 2015
X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and ...
Tejasvi S Niranjan, Cindy Skinner, Melanie May, Tychele Turner, Rebecca Rose, Roger Stevenson, Charles E Schwartz, Tao Wang   +7 more
doaj   +1 more source

X-linked intellectual disability

, 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   +1 more source

Ultrasound Modulation of Visual Circuits in Mice Independent of Auditory Confound

Advanced Science, EarlyView.
In this study, Qiu et al. found that low‐intensity ultrasound can directly activate sparse ultrasound‐sensitive neurons (UNs) in the primary visual cortex (V1) of deafened mice. The proportion of these sparse UNs is pressure‐dependent. Furthermore, ultrasound modulates visual circuitry with distinct excitatory and inhibitory effects.
Jiaru He, Jiejun Zhu, Xinxin Wang, Zihao Chen, Jin Yang, Zhen Yuan, Hongzhi Xu, Lei Sun, Zhihai Qiu   +8 more
wiley   +1 more source

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation

Cells
X chromosome inactivation (XCI) is a fundamental epigenetic process that balances X-linked gene expression between females and males by silencing one X chromosome in female cells. Variability or skewing of XCI can influence the clinical presentation of X-
Guibin Chen, Alexander Rodriguez-Lopez, Darawalee Wangsa, Richa Madan Lomash, Xiuli Huang, Catherine Z. Chen, Rodney A. Bowling, Neda Ghousifam, Courtney J. Banks, Kerstin A. Hurd, Jizhong Zou, Wei Zheng   +11 more
doaj   +1 more source

Thermally Gated Dual‐Cascade Nanozyme for Enhanced Mild‐Temperature Photothermal Therapy

Advanced Science, EarlyView.
A thermo‐responsive cascade nanozyme (Ru‐GOx‐PNN) synergistically enhances mild photothermal therapy by dual suppression of HSP70 through ROS‐induced lipid peroxidation and ATP depletion. This intelligent system effectively overcomes thermotolerance and amplifies apoptosis, offering a safe and precise strategy for tumor treatment.
Shuyu Wang, Shenghui Wang, Mengyuan Cao, Lulu Wang, Wei Jiang, Xiyun Yan, Ying Liu, Bing Jiang   +7 more
wiley   +1 more source

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

Molecular Genetics & Genomic Medicine, 2019
Background Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy.
Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer   +4 more
doaj   +1 more source