Results 91 to 100 of about 721,729 (294)
Hereditary angioedema (HAE) is a rare autosomal dominant disease with deficiency (type I) or dysfunction (type II) of C1 inhibitor, caused by mutations in the C1-INH gene, characterized by recurrent submucosal or subcutaneous edemas including skin ...
Ljerka Karadža-Lapić +7 more
doaj +1 more source
Molecular Genetics of C1 Inhibitor
More than 100 different C1 inhibitor gene mutations have been described in hereditary angioedema (HAE) patients. Sixty-nine mutations have been reported in patients with the quantitative C1 inhibitor defect (type 1 HAE) in two recent large-scale studies. These changes were found distributed over all exons and exon/intron boundaries.
openaire +2 more sources
Transition metal oxy/carbo‐nitrides show great promise as catalysts for sustainable processes. A Mn‐Mo mixed‐metal oxynitride attains remarkable performance for the direct synthesis of acetonitrile, an important commodity chemical, via sequential C─N and C─C coupling from syngas (C1) and ammonia (N1) feedstocks.
M. Elena Martínez‐Monje +7 more
wiley +1 more source
Dexime: A Selectively Enzyme‐Degradable Hydrogel for Protein Therapeutic Release
A dextrin‐oxime hydrogel (dexime) is produced using ketone or aldehyde modified dextrin and tetra‐oxyamine modified poly(ethylene glycol). The rheological and mechanical properties of dexime are tunable. Dexime is injectable, cytocompatible, hydrolytically stable, and selectively degradable by α‐amylase.
Quinton E. A. Sirianni +5 more
wiley +1 more source
Effect of mutations within the coding region of C1-INH gene on protein function in families with HAE
C1 esterase inhibitor (C1-INH) is a serine protease inhibitor (serpin). Serpins are a superfamily of proteins that fold into a conserved structure and utilize a unique suicide substrate-like inhibitory mechanism.
M. Cicardi +3 more
core
Controlling the protein corona formation onto carbon nanomaterials (CNMs) enhances their functionalities as platforms for cancer theranostics. Here, we reviewed the effects of the intrinsic and acquired properties of CNMs on protein corona formation, the consequent biological and toxicological outcomes, and the strategies to reshape corona formation ...
Yajuan Zou +5 more
wiley +1 more source
Clinical profile of patients with C1-inhibitor deficiency from Eastern India
C1-inhibtor deficiency or hereditary angioedema is a rare, autosomal dominant disorder that is characterized by severe episodic attacks of angioedema that can affect any part of the body.
Sujoy Khan
doaj +1 more source
Huamin Henry Li Institute for Asthma and Allergy, Chevy Chase, MD, USA Abstract: Hereditary angioedema (HAE) is a rare genetic disease characterized by episodic subcutaneous or submucosal swelling. The primary cause for the most common form of HAE is a
Li HH
core
Plasma levels of C1- inhibitor complexes and cleaved C1- inhibitor in patients with hereditary angioneurotic edema [PDF]
C1- inhibitor (C1(-)-Inh) catabolism in plasma of patients with hereditary angioneurotic edema (HANE) was assessed by measuring the complexes formed by C1(-)-Inh with its target proteases (C1-s, Factor XIIa, and kallikrein) and a modified (cleaved ...
M Cugno +13 more
core +1 more source
A targeted modulation of the MoS2 electronic structure is achieved via substitutional n‐type Co/Fe co‐doping. This strategy triggers S‐mediated d‐p hybridization, optimizing the binding affinity with polysulfides to establish a volcano‐shaped relationship between the d‐band center and catalytic activity.
Junhyuk Ji +6 more
wiley +1 more source

