Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Intermolecular Electrophilic Germylation Using GeCl4 and Al2Cl6
Angewandte Chemie, EarlyView.While electrophilic aromatic substitution is well‐established for carbon and silicon‐based electrophiles, it is extremely underdeveloped for germanium. Herein we report the first effective intermolecular Germa–Friedel–Crafts reaction. The process can be modified to enable selective synthesis of the mono‐ or the di‐aryl germane derivatives, ArGeCl3 and ...
Justyna Łosiewicz +4 more
wiley +2 more sources
The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa +2 more
wiley +1 more source
The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024
Australian Journal of Social Issues, EarlyView.ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe +2 more
wiley +1 more source
Triaging Casual From Critical-Leveraging Machine Learning to Detect Self-Harm and Suicide Risks for Youth on Social Media: Algorithm Development and Validation Study. [PDF]
JMIR Ment HealthQadir S +5 more
europepmc +1 more source
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source
Challenging Reward Structures and Organizational Cultures that Propagate Stem Cell Hyperbole. [PDF]
Stem Cell Rev RepTrinh A, Turner L.
europepmc +1 more source
Advanced NanoBiomed Research, EarlyView.Selenium nanoparticles (SeNPs) are emerging as multifunctional platforms for wound healing, integrating antimicrobial, anti‐inflammatory, and proregenerative activities. This review summarises key mechanisms and recent advances in SeNP‐enabled composite dressings, immunomodulatory nanocomposites, microenvironment‐responsive hydrogels, photothermal and ...
Yangxia Chen +10 more
wiley +1 more source
Tofersen: Silver Lining or Hyperbole?? [PDF]
Ann Indian Acad Neurol, 2023 Chawla T, Goyal V.
europepmc +1 more source
Toward a standardized validation framework in robotic surgery AI: proposal for an Surgical Validation Scoring (SURVAS) system. [PDF]
Ann Med Surg (Lond)Amjad A, Sikandar S, Ali U, Mahato RK.
europepmc +1 more source