Search PubMed⌕ Search

Biomedical subjects

B Blumberg

Publications and source records attributed to B Blumberg.

70 records · Page 4Linked to original sources
PubMed1987

Basement membrane procollagen IV and its specialized carboxyl domain are conserved in Drosophila, mouse, and human.

Interaction with the extracellular matrix is important for the proliferation and differentiation of cells during development. A specialized extracellular matrix, basement membrane, is built around a scaffold of procollagen IV molecules. We report the sequence of a 2.5-kilobase cDNA which contains the carboxyl end of a Drosophila melanogaster procollagen IV. The amino acid sequence of the carboxyl-terminal domain, which forms an essential intermolecular linkage between procollagen IV molecules, is 59% identical in Drosophila and vertebrate procollagens IV, and an additional 17% of residues are conservatively substituted. This implies that the nature of the linkage is also conserved. We suggest that intermolecular junctions through procollagen IV carboxyl domains are fundamental elements of the molecular architecture of Metazoan basement membranes and have been conserved during evolution. The isolation and identification of this basement membrane collagen gene of Drosophila will help in deducing the function of procollagen IV in basement membranes.

Amino Acid Sequence↗
PubMed1987

Serum antibodies to HTLV-I in human demyelinating disease.

Serum HTLV-I antibodies were measured in 17 MS patients and 2 closely matched control groups by 2 different independent assays. A highly sensitive particle agglutination test was used to detect HTLV-I core protein antigens and an immunoblot assay with E. coli-expressed P21E transmembrane protein was employed to detect antibodies to HTLV-I evelope antigens. No serologic evidence of prior HTLV-I infection in our population of multiple sclerosis (MS) or Guillain-Barré Syndrome (GBS) patients was found.

Adult↗
PubMed1987

Molecular cloning of 99% of measles virus genome, positive identification of 5' end clones, and mapping of the L gene region.

Molecular probes specific for paramyxovirus 3' and 5' end sequences are essential for studying viral transcription and replication and the role of defective interfering particles in these processes. We have constructed from measles virus genomic RNA an ordered series of overlapping clones containing over 99% of measles virus genetic information. Clones corresponding to the 3' and 5' ends of the genome were identified by means of a probe made from 'capped' genomic RNA, and their location was confirmed by primer extension experiments. Clones representing the N, P/C, M, F, and H genes were identified by reference to previously characterized clones, and their positions in the genome were defined by restriction analysis and S1 nuclease mapping of intercistronic clones. The L gene region was characterized by site-to-site restriction mapping and measured as 6,550 nucleotides in length.

Chromosome Mapping↗
PubMed1986

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio-Facio-Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis-like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.

Abnormalities, Multiple↗
PubMed1986

Biosynthesis and supramolecular assembly of procollagen IV in neonatal lung.

The rate of biosynthesis of procollagen IV, the principal collagen of basement membranes, and the concentration of specific RNAs coding for procollagen IV were measured in neonatal rat lungs. Both decreased sharply at birth and then recovered again a few days later. The supramolecular assembly of procollagen IV was followed in neonatal rat, mouse, and chick lungs, which actively elaborate endothelial and alveolar basement membranes, and in chick embryo gizzard which is rich in smooth muscle. The tetramer of four procollagen IV molecules linked covalently through their amino ends was isolated as an assembly intermediate from all these tissues. While noncovalent association of the carboxyl ends of two procollagen IV molecules occurred readily, the subsequent establishment of covalent cross-links was substantially slower in the junctional complexes of the carboxyl ends than of the amino ends. Both disulfide bonds and other, unidentified covalent links formed. The six component carboxyl peptides of a junctional complex became progressively covalently linked into two kinds of carboxyl peptide pairs. We conclude that both amino-linked tetramers and carboxyl-linked dimers of procollagen IV molecules are intermediates in the biological assembly of the collagen networks of these basement membranes.

Age Factors↗
PubMed1986

UCLA conference. Biochemistry of collagen in diseases.

Collagen, the major extracellular matrix component, comprises a family of closely related, yet genetically distinct proteins that provide physiologic tensile properties to the tissues. The recent progress made in understanding the normal biochemistry and biology of collagens has permitted us to identify different levels at which errors might be introduced into the structure and metabolism of this protein. Several acquired and heritable diseases are now known to involve distinct abnormalities in collagen. This conference reviews some of the latest discoveries in the biochemistry of collagen and highlights some disease entities in which definitive information on molecular alterations in collagen is available.

Collagen↗
PubMed1986

Potential role of paramyxoviruses in multiple sclerosis.

At the present time, the cause of multiple sclerosis (MS) remains unknown, although it seem likely that one or more infectious agents triggers the disease, perhaps through an autoimmune mechanism. In this article, evidence linking the paramyxoviruses, canine distemper, and measles to MS is reviewed.

Animals↗
PubMed1985

Sequence determination of the Sendai virus HN gene and its comparison to the influenza virus glycoproteins.

The nucleotide sequence of the Sendai virus (SV) HN (hemagglutinin-neuraminidase) gene was determined. The deduced primary structure of the protein showed only one hydrophobic domain likely to represent the transmembrane region, but at its N terminus. Since the SV F protein is anchored in the membrane at its C terminus, the two SV glycoproteins are thus membrane-anchored in opposite orientations, similar to the two influenza virus (FLU) glycoproteins. Amino acid sequence comparisons of the SV HN and the FLU HA and NA proteins revealed homologies between 100 amino acids of the hemagglutinin region of the FLU HA protein and the C terminus of the SV HN, and between 200 amino acids of the neuraminidase region of the FLU NA and the central region of SV HN. Alignment of the neuraminidase, hemagglutinin, and fusion regions shared by these glycoproteins suggest the structure of a possible ancestral gene.

Amino Acid Sequence↗
PubMed1984

Sensorineural deafness in the FG syndrome: report on four new cases.

We report on four new cases of FG syndrome with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, sensorineural deafness. The association between sensorineural deafness and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the Townes-Brocks syndrome.

Abnormalities, Multiple↗
PubMed1983

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.

Abnormalities, Multiple↗
PubMed1983

Sequence determination of the (+) leader RNA regions of the vesicular stomatitis virus Chandipura, Cocal, and Piry serotype genomes.

Using 3'-end-labeled genome probes, cells infected with vesicular stomatitis virus Chandipura, Cocal, and Piry serotypes were shown to contain (+) leader RNAs of approximately 50 nucleotides in length. The nucleotide sequence of the leader RNA regions of these genomes was determined and compared with the previously reported sequences of both the (+) and (-) leader RNA regions of other vesicular stomatitis virus serotypes. Regions of strong conservation of nucleotide sequence among the various vesicular stomatitis virus serotypes suggest those nucleotides thought to be involved in control functions during vesicular stomatitis virus replication.

Base Sequence↗
PubMed1982

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

The brain findings at autopsy of an 18-year-old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and ependymal cell replacement by neuroglial tissue as well as a diffuse defect of neuronal cell migration evidenced from pachygyria of many gyri, dysgenesis of cerebral cortex, and heterotopia of neurons in the white matter of the centrum ovale. A cousin, studied at 20 weeks' gestational age, had gross turridolichocephaly with enlarged cranium and also multiple minor external and internal anomalies. An affected brother of this fetus died at 17 months of complications of a congenital heart defect and CNS dysfunction. X-linked inheritance of the FG syndrome is confirmed.

Abnormalities, Multiple↗
PubMed1980

Partial 3q trisomy due to an unbalanced 3/10 translocation.

A newborn with partial 3q trisomy is reported. This female, small for gestational age, had multiple dysmorphic features, including turricephaly, microcephaly, broad and flat nasal bridge, anteverted nares, small ears, short limbs, bilateral transverse palmar creases, and fifth finger clinodactyly. The patient expired at 20 hours of age. An autopsy demonstrated duplication of the vagina and cervix, a bicornuate uterus, and streak ovaries. Cytogenetic studies revealed the patient to be trisomic for the portion of 3q distal to band 21 [46, XX,-10,t(3;10)(q21;p15)]. The father was found to carry a balanced 3/10 translocation [46,XY,t(3;10)(q21;p15)].

Abnormalities, Multiple↗
PubMedDate not supplied

Correlation between liver iron content and magnetic resonance imaging in rats.

Currently, serum ferritin concentration is the best noninvasive estimator of liver iron content. This study investigated the ability of magnetic resonance imaging to determine hepatic iron concentration. Fisher rats were treated with either parenteral iron to increase levels of phlebotomy to lower them and achieved a wide range of liver iron concentrations. Rats were imaged using a clinical whole body scanner at 1.5 Tesla with a 15-cm Helmholtz surface coil and a 23-cm field of view. The ratio of signal intensity of liver to skeletal muscle from images of the live intact rats correlated well with chemically measured iron concentration of the liver (r = -.89, p less than .0001, linear regression analysis). Transverse relaxation rates (1/calculated T2 relaxation times) also correlated with liver iron content (r = .66, p less than .0001). The observation of a significant correlation between liver iron content and both signal intensities and T2 relaxation rates, obtained by magnetic resonance imaging, may have considerable clinical relevance. If adapted to humans, this technique would have obvious applications in the diagnosis and management of diseases associated with iron overload as well as in the investigation of the overall role of iron in various human liver diseases.

Animals↗