Results 241 to 250 of about 2,757,435 (387)
J. Snick +6 more
semanticscholar +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Variation in the vulnerability of mice expressing human superoxide dismutase 1 to prion-like seeding: a study of the influence of primary amino acid sequence. [PDF]
Ayers JI +9 more
europepmc +1 more source
An amino acid sequence in the active centre of phosphoglucomutase [PDF]
C. Milstein, Frederick Sanger
openalex +1 more source
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Amino acid sequence of the Fc region of a human gamma G-immunoglobulin. [PDF]
Urs Rutishauser +4 more
openalex +1 more source
The novelty of this study showed that the injection of exosomes produced from ADMSCs in combination with Roflumilast poses a more favorable therapeutic outcome for CKD induced by Adriamycin, compared to therapy with exosomes or Roflumilast alone. Roflumilast and exosomes treatment lowered the expression of the apoptotic, fibrotic, and inflammatory ...
Mohamed Ali +5 more
wiley +1 more source
Differential Lipid Binding Specificities of RAP1A and RAP1B are Encoded by the Amino Acid Sequence of the Membrane Anchors. [PDF]
Araya MK +6 more
europepmc +1 more source

