Fragile X mental retardation protein coordinates neuron-to-glia communication for clearance of developmentally transient brain neurons. [PDF]
Proc Natl Acad Sci U S A, 2023 Song C, Broadie K.
europepmc +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
The nuclear isoforms of the Fragile X mental retardation RNA-binding protein associate with genomic DNA bridges. [PDF]
Mol Biol Cell, 2023 Ledoux N +6 more
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley +1 more source
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition. [PDF]
Eur J Hum Genet, 2022 Gargallo P +13 more
europepmc +1 more source
‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice
Australian Journal of Social Issues, EarlyView.ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino +3 more
wiley +1 more source
Characterization of Fragile X Mental Retardation Protein expression in human nociceptors and their axonal projections to the spinal dorsal horn. [PDF]
J Comp Neurol, 2023 Mitchell ME +6 more
europepmc +1 more source
Advancing Understanding of Subjective Liveability for People With Disability
Australian Journal of Social Issues, EarlyView.ABSTRACT Modern liveability frameworks aim to enhance health and well‐being through equity‐based measures across built, natural, social, and economic environments, yet they often overlook the perspectives of people with disability. This study explored expectations of liveable neighbourhoods among adults with diverse disability experiences in urban and ...
Maria Hobbs +3 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Due to historic and anticipated discrimination, engaging aged care services can see LGBTI+ older adults conceal their sexual orientation, gender identity or gender expression. Recommendations from the Australian Royal Commission into Aged Care claim to have addressed the needs of a range of diversity groups, including the needs of LGBTI+ older
Patricia Cain +2 more
wiley +1 more source
Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. [PDF]
Front Genet, 2022 Wang Y +9 more
europepmc +1 more source