Abstract Elucidating the molecular mechanisms of immunodeficiency diseases is a powerful approach to discovering new immunoregulatory pathways in humans. One such previously unknown pathway that GIMAP5, an evolutionarily conserved GTPase expressed T and NK lymphocytes, also known as gene mutated Biobreeding diabetic rat Sphinx lymphopenic mice. To better understand this disease association, we ...

AIMS Cerebellar ataxia is common in patients with mitochondrial disease, and despite previous neuropathological investigations demonstrating vulnerability of the olivocerebellar pathway in patients with mitochondrial disease, the exact neurodegenerative mechanisms are still not clear. We use quantitative quadruple immunofluorescence to enable precise quantification of mitochondrial respiratory ...

A previously undescribed de novo insertion-deletion mutation in the beta cardiac myosin heavy chain gene was found in a kindred with familial hypertrophic cardiomyopathy. In the mutated allele there is an inserted-deleted guanine at nucleotides 8823 and 8850 of the beta myosin heavy chain gene, resulting in a dramatic change of the amino acid sequence (AA 395-404). such a mutation, detected in ...

" One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase. " EMBO through an abasic DNA lesion: structural basis for adenine selectivity. " A. " Mutant DNA polymerase for improved detection of single-nucleotide variations in microarrayed primer extension " Chem. Eur. A. " Increased single-nucleotide discrimination in allele-...

Distributed transmission is single frequency network technology applied to the ATSC system for digital television. Rather than using a single transmitter to service a coverage area, multiple transmitters are used. The transmitters are synchronized in frequency and symbol emission. The ATSC Distributed Transmission was originally developed with the intention of supplying a studio to transmitter ...

To determine the internal structure of barley starch without amylopectin isolation, whole was hydrolyzed using ?-amylase to remove linear amylose and obtain ?-limit dextrins (?-LDs). The ?-LDs were treated with extensive ?-amylase prepare ?-limit (?-LDs), ?-LDs further into building blocks. chain-length distribution ?-LD block composition analyzed by size-exclusion chromatography anion-exchange...

Octaprenyl pyrophosphate synthase (OPPs) catalyzes consecutive condensation reactions of farnesyl pyrophosphate (FPP) with isopentenyl pyrophosphate (IPP) to generate C40 octaprenyl pyrophosphate (OPP), which constitutes the side chain of bacterial ubiquinone or menaquinone. In this study, the first structure of long chain C40-OPPs from Thermotoga maritima has been determined to 2.28-A resoluti...

B-cell chronic lymphocytic leukemia (CLL) consists of 2 prognostic entities where cases with mutated immunoglobulin V(H) genes have better outcome than unmutated cases. V(H)-mutated CLLs display longer telomeres compared with unmutated cases and telomere length has been indicated to predict outcome, although the prognostic value of telomere length has not been fully established in CLL. We analy...

OBJECTIVE To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern. METHODS We used MRI pattern recognition analysis to select a group of patients with a similar, characteristic MRI pattern. We performed whole-exome sequencing to identify the mutated gene. We examined patients' fibroblasts for biochemical c...

Mutations of genes encoding contractile proteins are responsible for familial hypertrophic cardiomyopathies. Understanding the process of differentiation of cardiomyocytes carrying a mutated protein is a crucial step towards potential treatments of inherited cardiac disorders. Embryonic Stem (ES) cells which faithfully recapitulate in vitro the process of cardiac cell differentiation can be gen...