52 research outputs found
Viral Loads in Clinical Specimens and SARS Manifestations
The number of anatomical sites with detectable viral loads by RT-qPCR appeared to correlate with death risk
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma
Renal cell carcinoma(RCC) is not a single disease, but several histologically defined cancers with different genetic drivers, clinical courses, and therapeutic responses. The current study evaluated 843 RCC from the three major histologic subtypes, including 488 clear cell RCC, 274 papillary RCC, and 81 chromophobe RCC. Comprehensive genomic and phenotypic analysis of the RCC subtypes reveals distinctive features of each subtype that provide the foundation for the development of subtype-specific therapeutic and management strategies for patients affected with these cancers. Somatic alteration of BAP1, PBRM1, and PTEN and altered metabolic pathways correlated with subtype-specific decreased survival, while CDKN2A alteration, increased DNA hypermethylation, and increases in the immune-related Th2 gene expression signature correlated with decreased survival within all major histologic subtypes. CIMP-RCC demonstrated an increased immune signature, and a uniform and distinct metabolic expression pattern identified a subset of metabolically divergent (MD) ChRCC that associated with extremely poor survival
A Deletional Frameshift Mutation In Spectrin Beta-gene Associated With Hereditary Elliptocytosis In Spectrin Napoli
We studied a clinically manifest, dominantly transmitted elliptocytosis in an Italian family. We found a new spectrin variant, designated spectrin Napoli. Its beta-chain was truncated in its C-terminal region (apparent MW 216 kD). It displayed a low expression level(15%). There was a 8 nt deletion: CTTTTGAGAAGT --> TGT (nt 6255-6262), starting after codon 2053. This deletion was followed by a 54nt (18 amino acids) missense sequence and terminated by the TGA triplet which normally overlaps codons 2074 and 2075 (CTTGAG). The overall length of the mutated beta-chain was comparable to that found in spectrin Nice, spectrin Tokyo and spectrin Tandil, which are other variants with truncated beta-chains; however, a distinct nonsense codon was used in spectrin Napoli
A deletional frameshift mutation in spectrin β-gene associated with hereditary elliptocytosis in spectrin Napoli
Web crippling behaviour of laterally restrained cold-formed steel re-entrant profiled deckings
Engraftment Kinetics in Children After Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation (RIC-HSCT)
A Splice Site Mutation Of The β-spectrin Gene Causing Exon Skipping In Hereditary Elliptocytosis Associated With A Truncated β-spectrin Chain
We studied a French kindred with hereditary elliptocytosis associated with a spectrin variant (spectrin LePuy) containing a β-spectrin chain that is truncated at its C terminus (Dhermy, D., Lecomte, M., Garbarz, M., Bournier, O., Galand, C., Gautero, H., Feo, C., Alloisio, N., Delaunay, J., and Boivin, P. (1982) J. Clin. Invest. 70, 707-715). The structure of the 3′ end of the β-spectrin gene, the region encoding the C terminus of β-spectrin, was determined. Nucleotide sequencing of amplified genomic DNA revealed a mutation at position +4 (A → G) of the 5′ donor consensus splice site of the intron following the third-to-last exon (exon X) in one β-spectrin allele of a heterozygous patient. Agarose gel electrophoresis of polymerase chain reaction-amplified cDNA revealed an extra band of lower molecular weight, suggesting that the short-ened β-spectrin chain of spectrin LePuy arises from aberrant mRNA splicing. Nucleotide sequencing of the shorter cDNA amplification product revealed that the sequences encoding exon X were absent. Southern blotting of cDNA amplification products confirmed this result. The skipping of exon X causes a shift in the normal reading frame resulting in the encoding of a new amino acid sequence at the C terminus of the mutant β-spectrin chain. A new in-frame stop codon is encountered following a single residue of this novel sequence.26623151541515
Significance Of HLA-B Antigen Matching In Event Free Survival (EFS) In Pediatric Umbilical Cord Blood Transplantation (CBT): Experience from 124 Single CBT At Children's Memorial Hospital (CMH), CHICAGO
Ambulatory Hematopoietic Stem Cell Transplant (HSCT) for Severe Primary Immunodeficiency (PID) in Children
Location and PCR-based detection of three polymorphisms of the human erythrocyte β-spectrin gene (SPTB)
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