NDLI: Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.

Please wait, while we are loading the content...

Year: 2017 Volume: 114

Year: 2016 Volume: 113

Year: 2015 Volume: 112

Year: 2014 Volume: 111

Year: 2013 Volume: 110

Year: 2012 Volume: 109

Year: 2011 Volume: 108

Year: 2010 Volume: 107

Year: 2009 Volume: 106

Year: 2008 Volume: 105

Year: 2007 Volume: 104

Year: 2006 Volume: 103

Year: 2005 Volume: 102

Year: 2004 Volume: 101

Year: 2003 Volume: 100

Year: 2002 Volume: 99

Year: 2001 Volume: 98

Year: 2000 Volume: 97

Year: 1999 Volume: 96

Year: 1998 Volume: 95

Year: 1997 Volume: 94

Year: 1997 Volume: 94 Issue: 26

Year: 1997 Volume: 94 Issue: 25

Year: 1997 Volume: 94 Issue: 24

Year: 1997 Volume: 94 Issue: 23

Year: 1997 Volume: 94 Issue: 22

Fluorescence correlation spectroscopy: diagnostics for sparse molecules.

IkappaB kinase: beginning, not the end.

Once there were twenty.

Recombinational crossroads: eukaryotic enzymes and the limits of bacterial precedents.

Phosphotyrosine signaling and the single cell:metazoan boundary.

Twist and shout (and pull): molecular chiropractors undo DNA.

On roads not taken in the evolution of protein catalysts: antibody steroid isomerases that use an enamine mechanism.

Making chemistry selectable by linking it to infectivity.

Protein-protein interactions among the Aux/IAA proteins.

Characterization of recombinant phytochrome from the cyanobacterium Synechocystis.

Prp43: An RNA helicase-like factor involved in spliceosome disassembly.

Cloning of mDEAH9, a putative RNA helicase and mammalian homologue of Saccharomyces cerevisiae splicing factor Prp43

Structural evidence for a second sialic acid binding site in avian influenza virus neuraminidases.

The crystal structure of human interferon beta at 2.2-A resolution.

Glu-tRNAGln amidotransferase: a novel heterotrimeric enzyme required for correct decoding of glutamine codons during translation.

Cloning of the cDNA for the TATA-binding protein-associated factorII170 subunit of transcription factor B-TFIID reveals homology to global transcription regulators in yeast and Drosophila.

Synthesis and screening of small molecule libraries active in binding to DNA.

The amino-terminal region of Tyk2 sustains the level of interferon alpha receptor 1, a component of the interferon alpha/beta receptor.

Structure of the thrombin complex with triabin, a lipocalin-like exosite-binding inhibitor derived from a triatomine bug.

Characterization of a genetically engineered inactivation-resistant coagulation factor VIIIa.

Respiratory chain is required to maintain oxidized states of the DsbA-DsbB disulfide bond formation system in aerobically growing Escherichia coli cells.

RecA tests homology at both pairing and strand exchange.

Extensive purification of a putative RNA polymerase I holoenzyme from plants that accurately initiates rRNA gene transcription in vitro.

Growth and viability of macrophages continuously stimulated to produce nitric oxide.

Conformation of coenzyme pyrroloquinoline quinone and role of $Ca^{2+}$ in the catalytic mechanism of quinoprotein methanol dehydrogenase

Molding a peptide into an RNA site by in vivo peptide evolution.

Participation of the nuclear cap binding complex in pre-mRNA 3' processing.

Both N-terminal myosin-binding and C-terminal actin-binding sites on smooth muscle caldesmon are required for caldesmon-mediated inhibition of actin filament velocity.

Molecular switch in signal transduction: reaction paths of the conformational changes in ras p21.

A structural census of the current population of protein sequences.

Preferential exclusion of sucrose from recombinant interleukin-1 receptor antagonist: role in restricted conformational mobility and compaction of native state.

Effects of extracellular $Ca^{2+}$ concentration on hair-bundle stiffness and gating-spring integrity in hair cells

Assigning folds to the proteins encoded by the genome of Mycoplasma genitalium.

Mechanical separation of the complementary strands of DNA.

Human deoxycytidine kinase is located in the cell nucleus.

Control of membrane phosphatidylcholine biosynthesis by diacylglycerol levels in neuronal cells undergoing neurite outgrowth

Activation of distinct caspase-like proteases by Fas and reaper in Drosophila cells.

Proteinase inhibitors I and II from potatoes specifically block UV-induced activator protein-1 activation through a pathway that is independent of extracellular signal-regulated kinases, c-Jun N-terminal kinases, and P38 kinase.

Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.

Abnormalities of pancreatic islets by targeted expression of a dominant-negative $K_{ATP} channel$

Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function.

Xenopus Zic3, a primary regulator both in neural and neural crest development.

Identification of active sites in amidase: evolutionary relationship between amide bond- and peptide bond-cleaving enzymes.

Convergent evolution of apolipoprotein(a) in primates and hedgehog.

Evolution of gilled mushrooms and puffballs inferred from ribosomal DNA sequences.

Origin and evolution of the slime molds (Mycetozoa)

Highly conservative reciprocal translocations formed by apparent joining of exchanged DNA double-strand break ends.

DHR3, an ecdysone-inducible early-late gene encoding a Drosophila nuclear receptor, is required for embryogenesis.

A gene spans the pseudoautosomal boundary in mice.

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.

Epstein-Barr virus-induced gene 3 and the p35 subunit of interleukin 12 form a novel heterodimeric hematopoietin.

Interaction of pigeon cytochrome c-(43–58) peptide analogs with either T cell antigen receptor or $I-A^{b} molecule$

Severe reduction in leukocyte adhesion and monocyte extravasation in mice deficient in CC chemokine receptor 2.

Targeting HIV proteins to the major histocompatibility complex class I processing pathway with a novel gp120-anthrax toxin fusion protein.

Prevention of development of autoimmune disease in BXSB mice by mixed bone marrow transplantation.

Posttranslational regulation of cyclin D1 by retinoic acid: a chemoprevention mechanism.

Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains.

Intracerebral tumor-associated hemorrhage caused by overexpression of the vascular endothelial growth factor isoforms VEGF121 and VEGF165 but not VEGF189.

Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung.

Selective induction of p53 and chemosensitivity in RB-deficient cells by E1A mutants unable to bind the RB-related proteins.

Restoration of beta-adrenergic signaling in failing cardiac ventricular myocytes via adenoviral-mediated gene transfer.

Evaluating treatment protocols to prevent antibiotic resistance.

Mechanical stretch induces vascular permeability factor in human mesangial cells: mechanisms of signal transduction.

Gene-based approach to human gene-phenotype correlations.

Alternative genetic pathways in colorectal carcinogenesis.

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.

Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease.

Cloning and characterization of the Flavobacterium johnsoniae (Cytophaga johnsonae) gliding motility gene, gldA.

Probing the assembly of transcription initiation complexes through changes in sigmaN protease sensitivity.

Operative GABAergic inhibition in hippocampal CA1 pyramidal neurons in experimental epilepsy.

Loss of haloperidol induced gene expression and catalepsy in protein kinase A-deficient mice.

The Caenorhabditis elegans seven-transmembrane protein ODR-10 functions as an odorant receptor in mammalian cells

Synapsin I interacts with c-Src and stimulates its tyrosine kinase activity

Response-reinforcement learning is dependent on N-methyl-D-aspartate receptor activation in the nucleus accumbens core.

The interaction between cytoplasmic dynein and dynactin is required for fast axonal transport.

Disruption of syntaxin-mediated protein interactions blocks neurotransmitter secretion.

Protein kinase C as a signal for exocytosis.

Recurrent excitatory postsynaptic potentials induced by synchronized fast cortical oscillations.

HOP-1, a Caenorhabditis elegans presenilin, appears to be functionally redundant with SEL-12 presenilin and to facilitate LIN-12 and GLP-1 signaling.

Defective γ-aminobutyric acid type B receptor-activated inwardly rectifying $K^{+}currents$ in cerebellar granule cells isolated from weaver and Girk2 null mutant mice

Design of compounds that increase the absorption of polar molecules.

Muscarinic stimulation of synaptic activity by protein kinase C is inhibited by adenosine in cultured hippocampal neurons

Two hemoglobin genes in Arabidopsis thaliana: the evolutionary origins of leghemoglobins.

Genetic control of abscisic acid biosynthesis in maize.

Year: 1997 Volume: 94 Issue: 21

Year: 1997 Volume: 94 Issue: 20

Year: 1997 Volume: 94 Issue: 19

Year: 1997 Volume: 94 Issue: 18

Year: 1997 Volume: 94 Issue: 17

Year: 1997 Volume: 94 Issue: 16

Year: 1997 Volume: 94 Issue: 15

Year: 1997 Volume: 94 Issue: 14

Year: 1997 Volume: 94 Issue: 13

Year: 1997 Volume: 94 Issue: 12

Year: 1997 Volume: 94 Issue: 11

Year: 1997 Volume: 94 Issue: 10

Year: 1997 Volume: 94 Issue: 9

Year: 1997 Volume: 94 Issue: 8

Year: 1997 Volume: 94 Issue: 7

Year: 1997 Volume: 94 Issue: 6

Year: 1997 Volume: 94 Issue: 5

Year: 1997 Volume: 94 Issue: 4

Year: 1997 Volume: 94 Issue: 3

Year: 1997 Volume: 94 Issue: 2

Year: 1997 Volume: 94 Issue: 1

Year: 1996 Volume: 93

Year: 1995 Volume: 92

Year: 1994 Volume: 91

Year: 1993 Volume: 90

Year: 1992 Volume: 89

Year: 1991 Volume: 88

Year: 1990 Volume: 87

Year: 1989 Volume: 86

Year: 1988 Volume: 85

Year: 1987 Volume: 84

Year: 1986 Volume: 83

Year: 1985 Volume: 82

Year: 1984 Volume: 81

Year: 1983 Volume: 80

Year: 1982 Volume: 79

Year: 1981 Volume: 78

Year: 1980 Volume: 77

Year: 1979 Volume: 76

Year: 1978 Volume: 75

Year: 1977 Volume: 74

Year: 1976 Volume: 73

Year: 1975 Volume: 72

Year: 1974 Volume: 71

Year: 1973 Volume: 70

Year: 1972 Volume: 69

Year: 1971 Volume: 68

Year: 1970 Volume: 67

Year: 1970 Volume: 66

Year: 1970 Volume: 65

Year: 1969 Volume: 64

Year: 1969 Volume: 63

Year: 1969 Volume: 62

Year: 1968 Volume: 61

Year: 1968 Volume: 60

Year: 1968 Volume: 59

Year: 1967 Volume: 58

Year: 1967 Volume: 57

Year: 1966 Volume: 56

Year: 1966 Volume: 55

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Coxon, A. B. Otterson, G. A. Khleif, S. N. Kaye, F. J. Chen, W. D.
Description	Author Affiliation: Otterson GA ( Genetics Department, Medicine Branch, Division of Clinical Sciences, National Cancer Institute, Bethesda, MD 20889, USA.);
Abstract	To study the molecular basis for the clinical phenotype of incomplete penetrance of familial retinoblastoma, we have examined the functional properties of three RB mutations identified in the germ line of five different families with low penetrance. RB mutants isolated from common adult cancers and from classic familial retinoblastoma (designated as classic RB mutations) are unstable and generally do not localize to the nucleus, do not undergo cyclin-dependent kinase (cdk)-mediated hyperphosphorylation, show absent protein 'pocket' binding activity, and do not suppress colony growth of RB(-) cells. In contrast, two low-penetrant alleles (661W and 'deletion of codon 480') retained the ability to localize to the nucleus, showed normal cdk-mediated hyperphosphorylation in vivo, exhibited a binding pattern to simian virus 40 large T antigen using a quantitative yeast two-hybrid assay that was intermediate between classic mutants (null) and wild-type RB, and had absent E2F1 binding in vitro. A third, low-penetrant allele, 'deletion of RB exon 4,' showed minimal hyperphosphorylation in vivo but demonstrated detectable E2F1 binding in vitro. In addition, each low-penetrant RB mutant retained the ability to suppress colony growth of RB(-) tumor cells. These findings suggest two categories of mutant, low-penetrant RB alleles. Class 1 alleles correspond to promoter mutations, which are believed to result in reduced or deregulated levels of wild-type RB protein, whereas class 2 alleles result in mutant proteins that retain partial activity. Characterization of the different subtypes of class 2 low-penetrant genes may help to define more precisely functional domains within the RB product required for tumor suppression.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	22
Volume Number	94
Language	English
Publisher	National Academy of Sciences
Publisher Date	1997-12-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Carrier Proteins Cell Cycle Proteins DNA-Binding Proteins Mutation Penetrance Retinoblastoma Protein Genetics Retinoblastoma Cell Compartmentation E2F Transcription Factors E2F1 Transcription Factor Heterozygote Homozygote Pedigree Phosphorylation Protein Binding Etiology Metabolism Retinoblastoma-Binding Protein 1 Transcription Factor DP1 Transcription Factors Comparative Study Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in