Results 31 to 40 of about 160,344 (254)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

‘Giving Back to Our Community’: The Retention of the Aboriginal and Torres Strait Islander Disability Workforce in New South Wales, Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Aboriginal and Torres Strait Islander people of Australia require culturally responsive services. The Australian government has committed to establishing strategies to increase the size of the Aboriginal and Torres Strait Islander disability workforce; however, there is scant research on the factors influencing retention.
J. Gwynn, J. Gilroy, S. Peter, F. Talbot, K. Bulkeley, C. Alcorso, K. Gwynne, B. Rambaldini, A. Haines, M. Lincoln   +9 more
wiley   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Tissue‐Specific and Spatially Dependent Metabolic Signatures Perturbed by Injury in Male and Female Mice

Arthritis &Rheumatology, EarlyView.
Objective Osteoarthritis, the leading cause of disability worldwide, disproportionately affects women, yet sex remains an overlooked determinant. This disparity stems from sex‐specific differences in injury susceptibility—a major risk factor for disease.
Hope D. Welhaven, Avery H. Welfley, Priyanka P. Brahmachary, Mark Greenwood, Donald F. Smith, Brian Bothner, Ronald K. June   +6 more
wiley   +1 more source

Mind the gap: Adherence to denosumab dosing and cessation guidelines in Australian residential aged care

British Journal of Clinical Pharmacology, EarlyView.
This original research used medication administration data to explore adherence to treatment guidelines for the most common osteoporosis medications in long‐term residential aged care (RAC) in Australia. The paper highlights gaps in adherence to treatment guidelines that must be addressed to improve outcomes of older adults living in RAC.
Marea O'Donnell, Johanna I. Westbrook, Bayzidur Rahman, Isabelle Meulenbroeks, Nasir Wabe, Ian D. Cameron, Mark Morgan, Magdalena Z. Raban   +7 more
wiley   +1 more source

Pregnancy‐related effect on elexacaftor, tezacaftor and ivacaftor pharmacokinetics in women with cystic fibrosis

British Journal of Clinical Pharmacology, EarlyView.
Aim The number of pregnancies among women with cystic fibrosis (wwCF) has steadily increased over the past decade. However, the pharmacokinetics (PK) of elexacaftor–tezacaftor–ivacaftor (ETI) during gestation remains uncharacterized, despite its widespread use in this population.
Paulette Magnas, Naim Bouazza, Frantz Foissac, Saïk Urien, Léo Froelicher‐Bournaud, Gabrielle Lui, Victoria Guillemart, Nicolas Carlier, Jennifer Da Silva, Johanna Fesenbeckh, Reem Kanaan, Isabelle Honoré, Clémence Martin, Jean‐Marc Treluyer, Vassilis Tsatsaris, Pierre‐Régis Burgel, Sihem Benaboud   +16 more
wiley   +1 more source

Erwin Schrödinger und die Versuchungen der (Wissenschafts‐)Biografik: Vorurteilsgefüge und Mechanismen der Skandalisierung

Berichte zur Wissenschaftsgeschichte, EarlyView.
Since late 2021, serious allegations have been made against physicist Erwin Schrödinger, ranging from pedophilia to serial sexual abuse. These accusations have significantly tarnished the Nobel Prize winner's public reputation. The ongoing debate has repeatedly raised the question of whether, and to what extent, these grave allegations are justified ...
Magdalena Gronau, Martin Gronau
wiley   +1 more source

Operations Research‐Based Formalisation and Design of Sustainable Reverse Logistics for E‐Waste Supply Chains

Business Strategy and the Environment, EarlyView.
ABSTRACT This study demonstrates how a profitable, lean, and environmentally responsible e‐waste reverse logistics system can be designed using integrated Operations Research (OR) techniques. Addressing the growing urgency of responsible consumption (UN SDG 12) and the projected rise of the e‐waste sector to USD 137.60 billion by 2029, the research ...
Sheeba Pathak, Hajar Fatorachian
wiley   +1 more source

Board Networks and Corporate Carbon Emissions: A Cross‐Country Analysis of Causal Effects

Business Strategy and the Environment, EarlyView.
ABSTRACT This study examines whether board networks influence corporate carbon emissions and the strategic pathways through which firms decarbonize. Using a sample of 1952 firms across 48 countries from 2003 to 2020, we employ dynamic stacked regressions that exploit exogenous carbon‐regulation shocks affecting firms connected through shared third ...
Katarzyna Burzynska, Sara Jonsson, Lu Liu, Michał Dzieliński   +3 more
wiley   +1 more source

RNZAF [Royal New Zealand Air Force] Biographies of Deceased Personnel 1939 - 1945 (Bound Volumes)

, 2023
<p>Transcription of key military and biographical data from eleven bound Volumes of Royal New Zealand Air Force Biographies of Deceased Personnel from 1939 to 1945.
Royal New Zealand Air Force
core   +1 more source