NDLI: Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

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: 1996 Volume: 93

Year: 1995 Volume: 92

Year: 1994 Volume: 91

Year: 1993 Volume: 90

Year: 1992 Volume: 89

Year: 1991 Volume: 88

Year: 1991 Volume: 88 Issue: 24

Year: 1991 Volume: 88 Issue: 23

Year: 1991 Volume: 88 Issue: 22

Year: 1991 Volume: 88 Issue: 21

Year: 1991 Volume: 88 Issue: 20

Year: 1991 Volume: 88 Issue: 19

Year: 1991 Volume: 88 Issue: 18

Year: 1991 Volume: 88 Issue: 17

Year: 1991 Volume: 88 Issue: 16

Year: 1991 Volume: 88 Issue: 15

Year: 1991 Volume: 88 Issue: 14

Year: 1991 Volume: 88 Issue: 13

Year: 1991 Volume: 88 Issue: 12

Year: 1991 Volume: 88 Issue: 11

Year: 1991 Volume: 88 Issue: 10

Year: 1991 Volume: 88 Issue: 9

Year: 1991 Volume: 88 Issue: 8

Year: 1991 Volume: 88 Issue: 7

Protein turnover as a component in the light/dark regulation of phosphoenolpyruvate carboxylase protein-serine kinase activity in C4 plants.

Cortisol rapidly reduces prolactin release and cAMP and 45Ca2+ accumulation in the cichlid fish pituitary in vitro.

The role of phosphoenolpyruvate carboxykinase in a marine macroalga with C4-like photosynthetic characteristics.

Streptococcus pyogenes causing toxic-shock-like syndrome and other invasive diseases: clonal diversity and pyrogenic exotoxin expression.

Clonal analysis of hematopoietic stem-cell differentiation in vivo.

Coupled amplification and sequencing of genomic DNA.

Inhibition of intercellular adhesion molecule 1-dependent biological activities by a synthetic peptide analog.

Retroviral sequences related to human T-lymphotropic virus type II in patients with chronic fatigue immune dysfunction syndrome.

Dopa decarboxylase activity of the living human brain.

Differential induction of interferon gamma gene expression after activation of CD4+ T cells by conventional antigen and Mls superantigen.

Neuronal NADPH diaphorase is a nitric oxide synthase.

Expression of the terminal protein region of hepatitis B virus inhibits cellular responses to interferons alpha and gamma and double-stranded RNA.

Secreted or nonsecreted forms of acidic fibroblast growth factor produced by transfected epithelial cells influence cell morphology, motility, and invasive potential.

Conversion of the interleukin 1 receptor antagonist into an agonist by site-specific mutagenesis.

Increased abundance of alternatively spliced forms of D2 dopamine receptor mRNA after denervation.

Mouse splenic and bone marrow cell populations that express high-affinity Fc epsilon receptors and produce interleukin 4 are highly enriched in basophils.

Escherichia coli DnaJ and GrpE heat shock proteins jointly stimulate ATPase activity of DnaK.

Lesions of the hypothalamus and pituitary inhibit volume-expansion-induced release of atrial natriuretic peptide.

Drosophila P-element transposase is a transcriptional repressor in vitro.

Escherichia coli replication terminator protein impedes simian virus 40 (SV40) DNA replication fork movement and SV40 large tumor antigen helicase activity in vitro at a prokaryotic terminus sequence.

A six-amino acid deletion in basic fibroblast growth factor dissociates its mitogenic activity from its plasminogen activator-inducing capacity.

Nerve growth factor stimulates protein tyrosine phosphorylation in PC-12 pheochromocytoma cells.

Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.

Expression of a mitogen-responsive gene encoding prostaglandin synthase is regulated by mRNA splicing.

Intracellular distribution of microinjected antisense oligonucleotides.

Large scale screen for transposon insertions into cloned genes.

Simian varicella virus DNA in dorsal root ganglia.

Phosphorylated Mr 32,000 dopamine- and cAMP-regulated phosphoprotein inhibits Na+,K(+)-ATPase activity in renal tubule cells.

Positive selection of candidate tumor-suppressor genes by subtractive hybridization.

Cloning and expression of cDNAs for two distinct murine tumor necrosis factor receptors demonstrate one receptor is species specific.

Humanized antibodies for antiviral therapy.

Expression of three mammalian cDNAs that interfere with RAS function in Saccharomyces cerevisiae.

Osteoclastic inhibition: an action of nitric oxide not mediated by cyclic GMP.

Inositol 1,4,5-trisphosphate receptors: distinct neuronal and nonneuronal forms derived by alternative splicing differ in phosphorylation.

Anterior pituitary hormone control by interleukin 2.

Adhesion versus coreceptor function of CD4 and CD8: role of the cytoplasmic tail in coreceptor activity.

Phosphorylation of a Ras-related GTP-binding protein, Rap-1b, by a neuronal Ca2+/calmodulin-dependent protein kinase, CaM kinase Gr.

Functional interdependence of the yeast SNF2, SNF5, and SNF6 proteins in transcriptional activation.

Localization of carbonic anhydrase IV in a specific capillary bed of the human eye.

Interleukin 1 alpha inhibits prostaglandin E2 release to suppress pulsatile release of luteinizing hormone but not follicle-stimulating hormone.

Analysis of affinity and structural selectivity in the binding of proteins to glycosaminoglycans: development of a sensitive electrophoretic approach.

Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Dose-dependent induction of resistance to terminal differentiation in x-irradiated cultures of normal human keratinocytes.

The Ca2(+)-binding glycoprotein SPARC modulates cell cycle progression in bovine aortic endothelial cells.

Anti-Tac-H, a humanized antibody to the interleukin 2 receptor, prolongs primate cardiac allograft survival.

Biosynthetic threonine deaminase gene of tomato: isolation, structure, and upregulation in floral organs.

Deletion analysis of a phytochrome-regulated monocot rbcS promoter in a transient assay system.

Expression of a mRNA related to c-rel and dorsal in early Xenopus laevis embryos.

Marked increases of two kinds of two-exon-skipped albumin mRNAs with aging and their further increase by treatment with 3'-methyl-4-dimethylaminoazobenzene in Nagase analbuminemic rats.

Introduction of foreign genes into tissues of living mice by DNA-coated microprojectiles.

Effects of pH and polysaccharides on peptide binding to class II major histocompatibility complex molecules.

Tyrosine phosphorylation of phospholipase C induced by membrane immunoglobulin in B lymphocytes.

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

Rigid protein motion as a model for crystallographic temperature factors.

Brain membrane protein band 3 performs the same functions as erythrocyte band 3.

Color vision in Lycaena butterflies: spectral tuning of receptor arrays in relation to behavioral ecology.

Malaria parasite chitinase and penetration of the mosquito peritrophic membrane.

Direct photoaffinity labeling of tubulin with colchicine.

Sperm attraction to a follicular factor(s) correlates with human egg fertilizability.

Gender differences in age effect on brain atrophy measured by magnetic resonance imaging.

Nuclear and axonal localization of Ca2+/calmodulin-dependent protein kinase type Gr in rat cerebellar cortex.

Calorimetric determination of the enthalpy change for the alpha-helix to coil transition of an alanine peptide in water.

Prediction of the thermodynamics of protein unfolding: the helix-coil transition of poly(L-alanine).

Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.

A single gene encodes membrane-bound and free forms of GP-2, the major glycoprotein in pancreatic secretory (zymogen) granule membranes.

Structural similarities in glutaminyl- and methionyl-tRNA synthetases suggest a common overall orientation of tRNA binding.

Genomically imposed and somatically modified human thymocyte V beta gene repertoires.

Protective effect of transforming growth factor beta 1 on experimental autoimmune diseases in mice.

Single K+ channels in membrane patches of arterial chemoreceptor cells are modulated by O2 tension.

A role for hydrophobic residues in the voltage-dependent gating of Shaker K+ channels.

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.

An antifreeze glycopeptide gene from the antarctic cod Notothenia coriiceps neglecta encodes a polyprotein of high peptide copy number. (Journal: Proceedings of the National Academy of Sciences of the United States of America Volume: 88 Issue: 7)

Year: 1991 Volume: 88 Issue: 6

Year: 1991 Volume: 88 Issue: 5

Year: 1991 Volume: 88 Issue: 4

Year: 1991 Volume: 88 Issue: 3

Year: 1991 Volume: 88 Issue: 2

Year: 1991 Volume: 88 Issue: 1

Two-dimensional life?

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

Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Maeda, T. Yamakawa, K. Yanagi, H. Matsunaga, T. Hiasa, Y. Hattori, N. Yamanouchi, Y. Tanaka, I. Obara, T. Hamaguchi, H.
Description	Author Affiliation: Matsunaga T ( Department of Human Genetics, University of Tsukuba, Japan.);
Abstract	The molecular genetic defect of a female patient with apolipoprotein A-I (apoA-I) deficiency and premature atherosclerosis was examined. Her parents were first cousins. Her plasma density fraction from 1.063 to 1.21 g/ml contained no apoA-I on SDS/PAGE and no measurable high density lipoprotein cholesterol. Southern blot hybridization showed no gross abnormality to be present in the patient's apoA-I gene and homozygosity for a haplotype of restriction fragment length polymorphisms in the apoA-I gene region. Sequencing after amplification by PCR revealed a codon 84 nonsense mutation (CAG----TAG, Gln----stop) of exon 4 and a codon 67 missense mutation (GCC----ACC, Ala----Thr) of exon 3 in the patient's apoA-I gene. The data from dot-blot hybridization with allele-specific oligonucleotide probes indicated that she was homozygous for the apoA-I gene with regard to the two mutations. The codon 37 missense mutation was also detected in the apoA-I gene of 6 out of 60 controls, who all had normal levels of apoA-I and high density lipoprotein cholesterol, suggesting that the missense mutation is polymorphic and not associated with apoA-I deficiency. These findings indicate that homozygosity for the apoA-I gene with codon 84 nonsense mutation causes the deficiency of apoA-I and of high density lipoprotein cholesterol in the patient.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	7
Volume Number	88
Language	English
Publisher	National Academy of Sciences
Publisher Date	1991-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Apolipoproteins A Genetics Arteriosclerosis Genes Lipoproteins, HDL Mutation Amino Acid Sequence Apolipoprotein A-I Blood Deficiency Blotting, Southern Cloning, Molecular Codon Coronary Angiography DNA Isolation & Purification Molecular Sequence Data Nucleic Acid Hybridization Oligonucleotide Probes Pedigree Polymerase Chain Reaction Reference Values Restriction Mapping Sequence Homology, Nucleic Acid Comparative Study Research Support, Non-U.S. Gov't 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