Results 91 to 100 of about 43,530 (264)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Functional-pragmatic potential of speech act variation in advertising discourse

Гуманитарные и юридические исследования
Introduction. The dominant illocutionary goal of institutional advertising discourse is to exercise a suggestive (implicit) influence on a wide range of recipients.
R. V. Chvalun, N. I. Kizilova
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Strain‐Release Pentafluorosulfanylation of Carbonyl‐Containing Disubstituted Bicyclobutanes: A Fortuitous Path to SF5‐Containing Oxa[2.1.1]bicyclohexanes

Angewandte Chemie, EarlyView.
A regio‐ and diastereoselective method for strain‐release pentafluorosulfanylation of carbonyl‐containing 1,3‐disubstituted [1.1.0]bicyclobutanes (BCBs) was developed that led to several fortuitous discoveries. For instance, the resultant SF5‐cyclobutanes (SF5‐CBs) exhibit close SF5⋯C═X contacts (X = C, N, O) and provide synthetic access to a new class
Alexander M. Stephens, Jake Anthony Olvera, Yannick Kraemer, Tyson Vu, Wang‐Yeuk Kong, Sudiksha Chaturvedi, Jeffrey M. Wang, Lauren M. Holder, Dean J. Tantillo, Cody Ross Pitts   +9 more
wiley   +2 more sources

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, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

A pragmatic view on referential acts in aphasia

Language and Health
This paper investigates referential acts in discourse, focusing on how individuals with aphasia use language within specific communicative contexts. We argue that reference is not merely a function of lexical or syntactic conventions, but a pragmatic act shaped by context, shared knowledge, and interactional dynamics.
Graci Roberto, Capone Alessandro
openaire   +3 more sources

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald, Lee Cubis, Di Winkler, Jacinta Douglas   +3 more
wiley   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Public Attitudes Toward Compassionate Release of Older People From Prison: Findings From a National Survey in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT The rapid increase in older people in prison populations worldwide is generating significant health, cost, and human rights pressures on custodial systems. Compassionate release for older, frail inmates is a potentially effective response, yet little is known about public support for this approach.
Ye In (Jane) Hwang, Natasha Ginnivan, Amanuel Kidane Hagos, Tony Butler   +3 more
wiley   +1 more source