Results 41 to 50 of about 8,409,709 (279)

A Novel Hemizygous Variant in the AFF2 Gene Causing Fragile XE (FRAXE) Syndrome: First Report from Pakistan

open access: yesPakistan Journal of Medical Research, 2021
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some ...
Iftikhar Ahmed   +3 more
doaj   +2 more sources

The postnatal support needs of mothers with an intellectual disability [PDF]

open access: yes, 2013
OBJECTIVE: there is growing evidence that many parents with intellectual disabilities can parent successfully when given adequate support. This paper aims to explore the postnatal care experiences of mothers with an intellectual disability.
McKenzie, Karen   +3 more
core   +1 more source

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings

open access: yesNeurology International
Background/Objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated
Michele Minerva   +7 more
doaj   +1 more source

Self-directed disability support: building people’s capacity through peer support and action research [PDF]

open access: yes, 2014
How are people with disability experiencing and managing the transition towards self directed support and preparing for the NDIS? In this project, small groups of people with disability around Australia met over 6 months to talk about their disability ...
Fisher, KR ; https://orcid.org/   +13 more
core   +2 more sources

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID and Fragile X syndrome

open access: yesFrontiers in Cellular Neuroscience, 2013
Intellectual disability (ID) is one of the many features manifested in various genetic syndromes leading to deficits in cognitive function among affected individuals. ID is a feature affected by polygenes and multiple environmental factors. It leads to a
Wei-Hong eSiew   +9 more
doaj   +1 more source

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

open access: yesLife Science Alliance, 2023
This study adds insights into FTSJ1 tRNA 2′-O-methylation–associated pathologies in humans and Drosophila by identification of novel FTSJ1 targets and neuron morphology defects.
Mira Brazane   +20 more
doaj   +1 more source

The use of IQ and descriptions of people with intellectual disabilities in the scientific literature [PDF]

open access: yes, 2011
A necessary though not sufficient part of most internationally recognised definitions of Intellectual Disability (ID) is having a measured intellectual quotient (IQ) less than a critical figure, usually 70, for example the American Association on ...
Whitaker, Simon, Laird, C.
core   +3 more sources

Structure‐forward targeting of claudins with synthetic binders

open access: yesFEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +1 more source

Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders

open access: yesCells, 2022
The Connector Enhancer of Kinase Suppressor of Ras-2 (CNKSR2), also known as CNK2 or MAGUIN, is a scaffolding molecule that contains functional protein binding domains: Sterile Alpha Motif (SAM) domain, Conserved Region in CNK (CRIC) domain, PSD-95/Dlg-A/
Hidenori Ito, Koh-ichi Nagata
doaj   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

open access: yesMolecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

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