NDLI: Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

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: 2001 Volume: 98 Issue: 26

Year: 2001 Volume: 98 Issue: 25

Year: 2001 Volume: 98 Issue: 24

Year: 2001 Volume: 98 Issue: 23

Year: 2001 Volume: 98 Issue: 22

Year: 2001 Volume: 98 Issue: 21

Year: 2001 Volume: 98 Issue: 20

A phosphatidylinositol 3-kinase/Akt pathway promotes translocation of Mdm2 from the cytoplasm to the nucleus.

Intravenous administration of MEK inhibitor U0126 affords brain protection against forebrain ischemia and focal cerebral ischemia.

Phenotypic diversity and ecosystem functioning in changing environments: a theoretical framework.

The identification of secreted carbonic anhydrase VI as a constitutive glycoprotein of human and rat milk.

Targeted adenovirus-induced expression of IL-10 decreases thymic apoptosis and improves survival in murine sepsis.

Comparative morphology and paleobiology of Middle Pleistocene human remains from the Bau de l'Aubesier, Vaucluse, France.

Immunogene therapy of tumors with vaccine based on Xenopus homologous vascular endothelial growth factor as a model antigen.

A conserved genetic module that encodes the major virion components in both the coliphage T4 and the marine cyanophage S-PM2.

Polymorphism in glutathione S-transferase P1 is associated with susceptibility to chemotherapy-induced leukemia

Crystal structure of the quorum-sensing protein LuxS reveals a catalytic metal site

Comprehensive survey of proteins targeted by chloroplast thioredoxin.

SUMO-1 modification required for transformation by adenovirus type 5 early region 1B 55-kDa oncoprotein.

Opposing cardioprotective actions and parallel hypertrophic effects of delta PKC and epsilon PKC.

Characterization of the nucleotide-binding capacity and the ATPase activity of the PIP3-binding protein JFC1.

Vitamin A deprivation results in reversible loss of hippocampal long-term synaptic plasticity.

Functional neuroanatomy of biological motion perception in humans.

Adaptor FYB (Fyn-binding protein) regulates integrin-mediated adhesion and mediator release: Differential involvement of the FYB SH3 domain

Behavioral screening for cocaine sensitivity in mutagenized zebrafish

Complete, long-lasting protection against malaria of mice primed and boosted with two distinct viral vectors expressing the same plasmodial antigen.

A physiological role for oxalic acid biosynthesis in the wood-rotting basidiomycete Fomitopsis palustris

Serine-345 is required for Rad3-dependent phosphorylation and function of checkpoint kinase Chk1 in fission yeast.

Oral immunization with hepatitis B surface antigen expressed in transgenic plants.

Haploinsufficiency of the Pten tumor suppressor gene promotes prostate cancer progression.

Subpicosecond conformational dynamics of small peptides probed by two-dimensional vibrational spectroscopy.

Social stress exacerbates stroke outcome by suppressing Bcl-2 expression.

Human Trp3 forms both inositol trisphosphate receptor-dependent and receptor-independent store-operated cation channels in DT40 avian B lymphocytes.

The S4–S5 linker couples voltage sensing and activation of pacemaker channels

Introduction of human apolipoprotein E4 'domain interaction' into mouse apolipoprotein E.

Association of yeast DNA topoisomerase III and Sgs1 DNA helicase: studies of fusion proteins.

Erratic overdispersion of three molecular clocks: GPDH, SOD, and XDH.

The murine beta-globin locus control region regulates the rate of transcription but not the hyperacetylation of histones at the active genes.

Remotely sensed habitat diversity predicts butterfly species richness and community similarity in Canada.

Origin of multidrug resistance in cells with and without multidrug resistance genes: chromosome reassortments catalyzed by aneuploidy.

Delivery of the Cre recombinase by a self-deleting lentiviral vector: Efficient gene targeting in vivo

Molecular synapomorphies resolve evolutionary relationships of extant jawed vertebrates.

CR16 forms a complex with N-WASP in brain and is a novel member of a conserved proline-rich actin-binding protein family.

Subcellular distribution of epothilones in human tumor cells.

Origin and significance of a founding settlement in Polynesia.

Distinct constitutive and $low-CO_{2}-induced$ $CO_{2}$ uptake systems in cyanobacteria: Genes involved and their phylogenetic relationship with homologous genes in other organisms

Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene.

Gene transcription analysis of Saccharomyces cerevisiae exposed to neocarzinostatin protein-chromophore complex reveals evidence of DNA damage, a potential mechanism of resistance, and consequences of prolonged exposure.

Thermodynamics 'beyond' local equilibrium.

Ascorbic acid stimulates gonadotropin release by autocrine action by means of NO

Growth inhibition by keratinocyte growth factor receptor of human salivary adenocarcinoma cells through induction of differentiation and apoptosis.

Supermolecular structure of the enteropathogenic Escherichia coli type III secretion system and its direct interaction with the EspA-sheath-like structure.

Caterpillar talk: acoustically mediated territoriality in larval Lepidoptera.

Local expression of expansin induces the entire process of leaf development and modifies leaf shape.

In vivo interactions of archaeal Cdc6/Orc1 and minichromosome maintenance proteins with the replication origin.

Resistance to Taxol in lung cancer cells associated with increased microtubule dynamics.

Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes.

Predicting the clinical status of human breast cancer by using gene expression profiles.

In vitro reconstitution of the myxochelin biosynthetic machinery of Stigmatella aurantiaca Sg a15: Biochemical characterization of a reductive release mechanism from nonribosomal peptide synthetases.

Structure of rat BCKD kinase: nucleotide-induced domain communication in a mitochondrial protein kinase.

Particle-hole symmetry in the antiferromagnetic state of the cuprates.

Ectopic expression of retinoic acid early inducible-1 gene (RAE-1) permits natural killer cell-mediated rejection of a MHC class I-bearing tumor in vivo.

Proteins related to the Nedd4 family of ubiquitin protein ligases interact with the L domain of Rous sarcoma virus and are required for gag budding from cells.

Poly(A)-independent regulation of maternal hunchback translation in the Drosophila embryo.

Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO

Dynamic regulation of metabolism and respiration by endogenously produced nitric oxide protects against oxidative stress

Preservation of light signaling to the suprachiasmatic nucleus in vitamin A-deficient mice.

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Disruption of Sur2-containing K(ATP) channels enhances insulin-stimulated glucose uptake in skeletal muscle.

In vivo transposition of Minos, a Drosophila mobile element, in mammalian tissues.

Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

Deep-Earth reactor: nuclear fission, helium, and the geomagnetic field.

Estrogen receptors activate atrial natriuretic peptide in the rat heart.

Structure of linkage disequilibrium and phenotypic associations in the maize genome.

Multiple myeloma disrupts the TRANCE/ osteoprotegerin cytokine axis to trigger bone destruction and promote tumor progression.

Blockade of the granzyme B/perforin pathway through overexpression of the serine protease inhibitor PI-9/SPI-6 constitutes a mechanism for immune escape by tumors.

Intracellular calcium dependence of large dense-core vesicle exocytosis in the absence of synaptotagmin I.

Dominant localization of prostaglandin D receptors on arachnoid trabecular cells in mouse basal forebrain and their involvement in the regulation of non-rapid eye movement sleep.

X-ray structures of H5 avian and H9 swine influenza virus hemagglutinins bound to avian and human receptor analogs.

Solid-state NMR studies of the secondary structure of a mutant prion protein fragment of 55 residues that induces neurodegeneration.

Divergent effect of bacillus Calmette-Guérin (BCG) vaccination on Mycobacterium tuberculosis infection in highly related macaque species: implications for primate models in tuberculosis vaccine research.

Two-dimensional IR spectroscopy can be designed to eliminate the diagonal peaks and expose only the crosspeaks needed for structure determination.

Creating multiple-crossover DNA libraries independent of sequence identity.

Inhalation delivery of proteins from ethanol suspensions.

How patterns of bleached rods and cones become visual perceptual experiences: a proposal.

Identification of molecular interactions between P-site tRNA and the ribosome essential for translocation.

Naive CD4 T cells inhibit CD28-costimulated R5 HIV replication in memory CD4 T cells.

Crystal structure of human PEDF, a potent anti-angiogenic and neurite growth-promoting factor.

Transcriptional repression of euchromatic genes by Drosophila heterochromatin protein 1 and histone modifiers

Allurin, a 21-kDa sperm chemoattractant from Xenopus egg jelly, is related to mammalian sperm-binding proteins.

An unsuspected autoregulatory pathway involving apocytochrome TorC and sensor TorS in Escherichia coli.

Normal kinetics of intestinal glucose absorption in the absence of GLUT2: evidence for a transport pathway requiring glucose phosphorylation and transfer into the endoplasmic reticulum.

A functional imaging study of cooperation in two-person reciprocal exchange.

A virus discovery method incorporating DNase treatment and its application to the identification of two bovine parvovirus species.

Neural roles for heme oxygenase: Contrasts to nitric oxide synthase

Presynaptic kainate receptors at hippocampal mossy fiber synapses.

Retrograde signaling at central synapses.

Controlling potassium channel activities: Interplay between the membrane and intracellular factors.

Calcium regulation of neuronal gene expression.

Sensory experience and sensory activity regulate chemosensory receptor gene expression in Caenorhabditis elegans.

Presenilin, Notch, and the genesis and treatment of Alzheimer's disease.

DeltaFosB: a sustained molecular switch for addiction.

Glutamatergic modulation of hyperactivity in mice lacking the dopamine transporter.

Zinc induces a Src family kinase-mediated up-regulation of NMDA receptor activity and excitotoxicity.

Regulation of cyclin-dependent kinase 5 and casein kinase 1 by metabotropic glutamate receptors

Ordered upwind methods for static Hamilton-Jacobi equations.

A single amino acid serves as an affinity switch between the receptor and the binding protein of corticotropin-releasing factor: implications for the design of agonists and antagonists.

Can coelenterates make coelenterazine? Dietary requirement for luciferin in cnidarian bioluminescence.

Definition of EGF-like, closely interacting modules that bear activation epitopes in integrin beta subunits.

Design of potent inhibitors of HIV-1 entry from the gp41 N-peptide region.

A computational analysis of sequence features involved in recognition of short introns.

Binding of cyclin-dependent kinases to ORC and Cdc6p regulates the chromosome replication cycle.

Purification and characterization of human DNA damage checkpoint Rad complexes.

On the nature of a glassy state of matter in a hydrated protein: Relation to protein function.

Disordered to ordered folding in the regulation of diphtheria toxin repressor activity.

Spatially localized generation of nucleotide sequence-specific DNA damage.

Focal adhesion kinase is involved in mechanosensing during fibroblast migration.

Digital in-line holography for biological applications.

Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals

Self-organization of a propulsive actin network as an evolutionary process.

Germ cell selection in genetic mosaics in Drosophila melanogaster.

Evidence that the WNT-inducible growth arrest-specific gene 1 encodes an antagonist of sonic hedgehog signaling in the somite.

Contribution of individual random mutations to genotype-by-environment interactions in Escherichia coli.

A growth cost of begging in captive canary chicks.

WWOX: a candidate tumor suppressor gene involved in multiple tumor types.

Expression of the REB transcriptional activator in rice grains improves the yield of recombinant proteins whose genes are controlled by a Reb-responsive promoter.

Drought- and salt-tolerant plants result from overexpression of the AVP1 $H^{+}-pump$

Spontaneous tumorigenesis in mice defective in the MTH1 gene encoding 8-oxo-dGTPase.

Increased levels of forkhead box M1B transcription factor in transgenic mouse hepatocytes prevent age-related proliferation defects in regenerating liver

Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population.

Ultrasensitive detection and identification of fluorescent molecules by FCS: impact for immunobiology.

Transgenic rescue implicates beta2-microglobulin as a diabetes susceptibility gene in nonobese diabetic (NOD) mice.

Avicins, a family of triterpenoid saponins from Acacia victoriae (Bentham), suppress H-ras mutations and aneuploidy in a murine skin carcinogenesis model

Avicins, a family of triterpenoid saponins from Acacia victoriae (Bentham), inhibit activation of nuclear factor-kappaB by inhibiting both its nuclear localization and ability to bind DNA.

Fruiting body formation by Bacillus subtilis.

A universal protein-protein interaction motif in the eubacterial DNA replication and repair systems.

Interference with Pseudomonas quinolone signal synthesis inhibits virulence factor expression by Pseudomonas aeruginosa.

Mapping adolescent brain change reveals dynamic wave of accelerated gray matter loss in very early-onset schizophrenia.

Initial recovery of vision after early monocular deprivation in kittens is faster when both eyes are open.

Posttranscriptional regulation of gene expression in learning by the neuronal ELAV-like mRNA-stabilizing proteins.

Conductivity tensor mapping of the human brain using diffusion tensor MRI.

Dehydroascorbic acid, a blood-brain barrier transportable form of vitamin C, mediates potent cerebroprotection in experimental stroke.

Interaction of the AMPA receptor subunit GluR2/3 with PDZ domains regulates hippocampal long-term depression.

Molecular genetics and the evolution of ultraviolet vision in vertebrates.

A zinc-sensing receptor triggers the release of intracellular $Ca^{2+}$ and regulates ion transport

Short-term exposure to pregnancy levels of estrogen prevents mammary carcinogenesis.

Modulation of nitric oxide bioavailability by erythrocytes.

Auxin modulates the degradation rate of Aux/IAA proteins.

Spatiotemporal variation of metabolism in a plant circadian rhythm: The biological clock as an assembly of coupled individual oscillators

LEAFY COTYLEDON2 encodes a B3 domain transcription factor that induces embryo development.

Intensely pleasurable responses to music correlate with activity in brain regions implicated in reward and emotion.

Year: 2001 Volume: 98 Issue: 19

Year: 2001 Volume: 98 Issue: 18

Year: 2001 Volume: 98 Issue: 17

Year: 2001 Volume: 98 Issue: 16

Year: 2001 Volume: 98 Issue: 15

Year: 2001 Volume: 98 Issue: 14

Year: 2001 Volume: 98 Issue: 13

Year: 2001 Volume: 98 Issue: 12

Year: 2001 Volume: 98 Issue: 11

Year: 2001 Volume: 98 Issue: 10

Year: 2001 Volume: 98 Issue: 9

Year: 2001 Volume: 98 Issue: 8

Year: 2001 Volume: 98 Issue: 7

Year: 2001 Volume: 98 Issue: 6

Year: 2001 Volume: 98 Issue: 5

Year: 2001 Volume: 98 Issue: 4

Year: 2001 Volume: 98 Issue: 3

Year: 2001 Volume: 98 Issue: 2

Year: 2001 Volume: 98 Issue: 1

Year: 2000 Volume: 97

Year: 1999 Volume: 96

Year: 1998 Volume: 95

Year: 1997 Volume: 94

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

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ballock, R. T. Economides, A. N. Sciortino, C. M. Romero, M. F. Harland, R. M. Warman, M. L. Eimon, P. M. Ulatowski, L. M. Marcelino, J.
Description	Author Affiliation: Marcelino J ( Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA.);
Abstract	Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas mice heterozygous for Nog loss-of-function mutations are normal. In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1). This study investigated the effect of one SYNS1 and two SYM1 disease-causing missense mutations on the structure and function of noggin. The SYNS1 mutation abolished, and the SYM1 mutations reduced, the secretion of functional noggin dimers in transiently transfected COS-7 cells. Coexpression of mutant noggin with wild-type noggin, to resemble the heterozygous state, did not interfere with wild-type noggin secretion. These data indicate that the human disease-causing mutations are hypomorphic alleles that reduce secretion of functional dimeric noggin. Therefore, we conclude that noggin has both species-specific and joint-specific dosage-dependent roles during joint formation. Surprisingly, in contrast to the COS-7 cell studies, the SYNS1 mutant was able to form dimers in Xenopus laevis oocytes. This finding indicates that there also exist species-specific differences in the ability to process mutant noggin polypeptides.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	20
Volume Number	98
Language	English
Publisher	National Academy of Sciences
Publisher Date	2001-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Bone Morphogenetic Proteins Metabolism Mutation, Missense Proteins Genetics Animals Antagonists & Inhibitors COS Cells Carrier Proteins Cercopithecus Aethiops Dimerization Disulfides Oocytes Physiology Protein Biosynthesis Recombinant Proteins Synostosis Transfection Xenopus Laevis Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. 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