Results 101 to 110 of about 894 (209)
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
Healthcare Settings and Infection Prevention: Today's Procedures in Light of the "Instructions for Disinfection" Issued During the 1817 Typhus Epidemic in the Grand Duchy of Tuscany (Pre-Unification Italy). [PDF]
Orsini D +7 more
europepmc +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
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
Intergenerational narratives of toxicity: understanding heterogeneity and care in a polluted steeltown (Taranto, Italy). [PDF]
Ippolito R, Sale C, Jokela-Pansini M.
europepmc +1 more source
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
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
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
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
RAISE-FER: a massive cross-dataset augmented facial expression dataset. [PDF]
Palestra G, Palmisano D, De Carolis BN.
europepmc +1 more source

