Results 71 to 80 of about 43,167 (288)

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Orphanet Journal of Rare Diseases, 2022
Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis.
Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy   +15 more
doaj   +1 more source

Risk assessment in offenders with intellectual disability: a comparison across three levels of security

, 2008
In mainstream offender samples, several risk assessments have been evaluated for predictive validity. This study extends this work to male offenders with intellectual disabilities.
Johnston, Susan, O'Brien, Gregory, Taylor, John, Lindsay, William, Hogue, Todd E., Steptoe, Lesley, Mooney, Paul, Smith, Anne   +7 more
core   +1 more source

TSPYL5 Promotes Triple‐Negative Breast Cancer Metastasis by Antagonizing USP10‐Mediated PTEN Stabilization to Unleash a ZEB1‐Dependent EMT Program

Advanced Science, EarlyView.
The hyperactivation of PI3K/AKT signaling in PTEN wild‐type triple‐negative breast cancer represents a clinical paradox. We delineate a novel post‐translational regulatory axis wherein the oncogene TSPYL5 competitively antagonizes the deubiquitinase USP10.
Jiaying Shi, Ming Yi, Shengyu Xie, Zhaokun Wang, Xinyue Zhang, Yangwei Zhang, Rui Tang, Yuan Yang, Yunqiang Liu   +8 more
wiley   +1 more source

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

BMC Medical Genetics, 2012
Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show
Hanchard Neil A, Carvalho Claudia MB, Bader Patricia, Thome Aaron, Omo-Griffith Lisa, del Gaudio Daniela, Pehlivan Davut, Fang Ping, Schaaf Christian P, Ramocki Melissa B, Lupski James R, Cheung Sau Wai   +11 more
doaj   +1 more source

Learning and intellectual disability nursing practice

, 2023
This book addresses learning/intellectual disability nursing from various perspectives, including historical and contemporary practice, health promotion, interventions for good mental health, people with profound disabilities and complex needs, care ...

core  

Cuproptosis and Mitophagy Mediated by the THUMPD1/IGF2R‐Dependent Suppression of AKT and Activation of AMPK Signaling Suppress Lung Adenocarcinoma Progression

Advanced Science, EarlyView.
THUMPD1 drives a tumor‐suppressive signaling cascade in lung adenocarcinoma by promoting IGF2R expression. IGF2R associates with PPP2R1A to suppress AKT and activate AMPK, leading to SLC31A1 upregulation and copper accumulation. Elevated copper disrupts mitochondrial metabolism and induces excessive mitophagy, thereby restraining tumor growth and ...
Kai Wu, Bo Qin, Zhuoyu Gu, Weizheng Ding, Xiaoming Chen, Kaishang Zhang, Yujin Qiao, Shuang Yuan, Song Zhao, Xiangnan Li, Peng Zhang   +10 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

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

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

Deprivation, ethnicity and the prevalence of intellectual and developmental disabilities [PDF]

, 2012
Background Social gradients and ethnic disparities have been reported in some forms of intellectual and developmental disabilities. However, information on the association between area deprivation, ethnicity and other forms of intellectual and ...
Emerson, Eric
core