Results 101 to 110 of about 894 (209)

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

open access: yesAmerican 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   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican 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

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi   +20 more
wiley   +1 more source

Characterization of Full‐Length Antibody Complexes Through HDX‐Mass Spectrometry Coupled With NMR Spectroscopy: New Insight Into Avelumab/PD‐L1 Interaction

open access: yesAngewandte Chemie, EarlyView.
Combining HDX‐MS and NMR enables the mapping of epitopes and paratopes in full‐length antibody complexes, revealing transient interactions and potential artifacts. ABSTRACT Recombinant biomacromolecules have significantly transformed pharmaceuticals, in particular monoclonal antibodies (mAbs) that target key areas in oncology, immunology, inflammation,
Francesca Sacco   +13 more
wiley   +2 more sources

Australian Activists as Storytellers in Digital Spaces: Acquiring Skills, Producing Content and Getting the Message Out

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT As modes of activism rapidly evolve, activists—both seasoned and emerging—must increasingly navigate a hybrid terrain of both digital and non‐digital engagement. This paper draws on the personal narratives of 16 nascent activists based in Australia to explore how they develop competencies related to digital storytelling, which is critical to ...
Garth Stahl   +5 more
wiley   +1 more source

Acetylene Semi‐Hydrogenation by Photocatalysis

open access: yesAngewandte Chemie, EarlyView.
Photocatalytic acetylene semi‐hydrogenation is an emerging light‐driven route to polymer‐grade ethylene, offering a mild alternative to energy‐intensive thermocatalysis. By replacing H2 co‐feed with water or other proton sources, these systems can achieve high selectivity under ambient conditions.
Anna Fortunato   +6 more
wiley   +2 more sources

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