Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy
Objective To identify a new genetic cause in patients segregating distal hereditary motor neuropathy (dHMN) with an autosomal recessive pattern. Methods Whole‐exome sequencing was conducted in two siblings and was combined with segregation analysis ...
Daojun Hong +17 more
doaj +1 more source
Background Severe cardiac hypertrophy can lead to cardiac remodeling and even heart failure in the end, which is a leading cause of cardiovascular disease–related mortality worldwide.
Lingyun Ren +12 more
doaj +1 more source
Simulated Microgravity Regulates Gene Transcript Profiles of 2T3 Preosteoblasts: Comparison of the Random Positioning Machine and the Rotating Wall Vessel Bioreactor [PDF]
Microgravity of spaceflight induces bone loss due in part to decreased bone formation by osteoblasts. We have previously examined the microgravity-induced changes in gene expression profiles in 2T3 preosteoblasts using the Random Positioning Machine (RPM)
Hanjoong, Jo +6 more
core +1 more source
CD10 expression in urothelial carcinoma of the bladder
Background CD10 antigen is a 100-kDa-cell surface zinc metalloendopeptidase and it is expressed in a variety of normal and neoplastic lymphoid and nonlymphoid tissues.
Bozkurt Erol R +4 more
doaj +1 more source
Regulating Pathways of Bacillus pumilus Adamalysin-like Metalloendopeptidase Expression. [PDF]
Rudakova NL +4 more
europepmc +1 more source
Function of the Signal Peptide and N- and C-terminal Propeptides in the Leucine Aminopeptidase from \u3cem\u3eAeromonas proteolytica\u3c/em\u3e [PDF]
The leucine aminopeptidase from Aeromonas proteolytica (also known as Vibrio proteolyticus) (AAP) is a metalloenzyme with broad substrate specificity. The open reading frame (ORF) for AAP encodes a 54 kDa enzyme, however, the extracellular enzyme has a ...
Bzymek, Krzysztof P. +5 more
core +1 more source
Compartmentalised expression of meprin in small intestinal mucosa: enhanced expression in lamina propria in coeliac disease [PDF]
Epithelial cells in the human small intestine express meprin, an astacin-like metalloprotease, which accumulates normally at the brush border membrane and in the gut lumen. Therefore, meprin is targeted towards luminal components.
Buri, Caroline +6 more
core
Two α subunits and one β subunit of meprin zinc-endopeptidases are differentially expressed in the zebrafish Danio rerio [PDF]
Meprins are members of the astacin family of metalloproteases expressed in epithelial tissues, intestinal leukocytes and certain cancer cells. In mammals, there are two homologous subunits, which form complex glycosylated disulfide-bonded homo- and ...
Becker-Pauly, Christoph +4 more
core
Protein Regge Trajectories, Phase Coexistence and Loop Aetiology in Alzheimers Disease [PDF]
Alzheimer's disease has a devastating impact on its victims by causing severe neurodegeneration in the brain that leads to a certain death. Only in a small number of cases can the origin be traced to a variety of genetic mutations, for the greater ...
Andrey Krokhotin, Antti Niemi
core
Angiotensin converting enzyme in human seminal plasma is synthesized by the testis, epididymis and prostate [PDF]
Fink, Edwin +4 more
core +1 more source

