Results 71 to 80 of about 25,010,716 (171)
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009 Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
openaire +3 more sources
An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene [PDF]
Journal of Human Genetics, 1999 We found an AciI polymorphism in the 3' untranslated region of the phosphomannomutase 2 (PMM2) gene located at 16p13. A G-to-C transition at nucleotide position 96 bp downstream from the PMM2 stop codon was detected in polymerase chain reaction (PCR) products after AciI digestion.
K, Mizugishi +3 more
openaire +2 more sources
Anthropometric Phenotype of Patients with PMM2-CDG
Children, 2021 Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński +3 more
doaj +1 more source
Autoimmunity and Periodontitis
Journal of Periodontal Research, EarlyView.In a microbe‐driven inflammatory environment, peptidyl‐arginine deiminase (PAD) enzymes from neutrophils and Porphyromonas gingivalis citrullinate both microbial and self‐antigens. B cell presentation of citrullinated or self‐mimicking epitopes activates T cells that assist B cells in antibody isotype switching, affinity maturation, epitope spreading ...
Massimo Costalonga +2 more
wiley +1 more source
Comparative Genomics of 9 Novel Paenibacillus Larvae Bacteriophages [PDF]
, 2016 American Foulbrood Disease, caused by the bacterium Paenibacillus larvae, is one of the most destructive diseases of the honeybee, Apis mellifera. Our group recently published the sequences of 9 new phages with the ability to infect and lyse P.
Amy, Penny S. +4 more
core +2 more sources
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +1 more source
Foods, 2021 Coagulase-positive Staphylococcus aureus is a foodborne pathogen considered one of the causes of food-related disease outbreaks. Like S. aureus, Staphylococcus capitis, Staphylococcus caprae, and S.
Eiseul Kim +5 more
doaj +1 more source
Monitoring of transcriptional regulation in Pichia pastoris under protein production conditions [PDF]
, 2007 Background: It has become evident that host cells react to recombinant protein production with a variety of metabolic and intrinsic stresses such as the unfolded protein response (UPR) pathway.
Anamitra Bhattacharyya +7 more
core +3 more sources
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Proteomic analysis of Daphnia magna hints at molecular pathways involved in defensive plastic responses [PDF]
, 2014 Background: Phenotypic plasticity in defensive traits occurs in many species when facing heterogeneous predator regimes. The waterflea Daphnia is well-known for showing a variety of these so called inducible defences.
Arnold, Georg J. +3 more
core +5 more sources