Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

Abstract:

:Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. These mutations either disrupt normal mRNA splicing (type I), cause premature polypeptide termination (type II), or result in a specific amino acid substitution (type III). The three different genotypes were present in the six patients as type I/II, type II/III, and type III/III. Thus far no correlation was found between the three genotypes and the bleeding tendency in these patients.

authors

Asakai R,Chung DW,Ratnoff OD,Davie EW

doi

10.1073/pnas.86.20.7667

subject

Has Abstract

pub_date

1989-10-01 00:00:00

pages

7667-71

issue

20

eissn

0027-8424

issn

1091-6490

journal_volume

86

pub_type

杂志文章
  • Latitudinal difference in biodiversity caused by higher tropical rate of increase.

    abstract::Tropical diversity has generally exceeded temperate diversity in the present and at points in the past, but whether measured differences have remained relatively constant through time has been unknown. Here we examine tropical vs. temperate diversities from the Neogene to Recent using the within-habitat diversity meas...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.122241499

    authors: Buzas MA,Collins LS,Culver SJ

    更新日期:2002-06-11 00:00:00

  • Activation of hypoxia-inducible factor 1alpha: posttranscriptional regulation and conformational change by recruitment of the Arnt transcription factor.

    abstract::In response to hypoxia the hypoxia-inducible factor-1 (HIF-1) mediates transcriptional activation of a network of genes encoding erythropoietin, vascular endothelial growth factor, and several glycolytic enzymes. HIF-1 consists of a heterodimer of two basic helix-loop-helix PAS (Per/Arnt/Sim) proteins, HIF-1alpha and ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.94.11.5667

    authors: Kallio PJ,Pongratz I,Gradin K,McGuire J,Poellinger L

    更新日期:1997-05-27 00:00:00

  • Analysis of the C-value paradox by molecular hybridization.

    abstract::Poly(A)-containing RNA was isolated from ovaries of Xenopus laevis laevis and Triturus cristatus carnifex and used as a template for the synthesis of radioactive complementary DNA with RNA-dependent DNA polymerase. When annealed with an excess of homologous DNA, the complementary DNA is rendered double-stranded with k...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.71.9.3746

    authors: Rosbash M,Ford PJ,Bishop JO

    更新日期:1974-09-01 00:00:00

  • Functional transfer RNAs with modifications in the 3'-CCA end: differential effects on aminoacylation and polypeptide synthesis.

    abstract::The trinucleotide CCA sequence is present at the 3' terminus of all mature tRNAs. Despite this high degree of conservation, we have been able to prepare in vitro transcripts of Escherichia coli tRNA(Val) with altered 3' termini that are readily aminoacylated and can function in polypeptide synthesis. Replacement of th...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.91.22.10389

    authors: Liu M,Horowitz J

    更新日期:1994-10-25 00:00:00

  • Photoperiod alters autonomic regulation of the heart.

    abstract::Outside of the tropics, environmental conditions fluctuate in a generally predictable manner across the year. Many small mammals have evolved mechanisms, such as seasonal breeding and annual adjustments in physiology, morphology, and behavior, that promote winter survival when food is scarce and thermoregulation is ch...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0810973106

    authors: Weil ZM,Norman GJ,DeVries AC,Berntson GG,Nelson RJ

    更新日期:2009-03-17 00:00:00

  • Limits of multifunctionality in tunable networks.

    abstract::Nature is rife with networks that are functionally optimized to propagate inputs to perform specific tasks. Whether via genetic evolution or dynamic adaptation, many networks create functionality by locally tuning interactions between nodes. Here we explore this behavior in two contexts: strain propagation in mechanic...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1806790116

    authors: Rocks JW,Ronellenfitsch H,Liu AJ,Nagel SR,Katifori E

    更新日期:2019-02-12 00:00:00

  • Purified membrane and soluble folate binding proteins from cultured KB cells have similar amino acid compositions and molecular weights but differ in fatty acid acylation.

    abstract::A membrane-associated folate binding protein (FBP) and a soluble FBP, which is released into the culture medium, have been purified from human KB cells using affinity chromatography. By NaDodSO4/PAGE, both proteins have an apparent Mr of approximately 42,000. However, in the presence of Triton X-100, the soluble FBP e...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.84.18.6546

    authors: Luhrs CA,Pitiranggon P,da Costa M,Rothenberg SP,Slomiany BL,Brink L,Tous GI,Stein S

    更新日期:1987-09-01 00:00:00

  • Netrin-1 induces angiogenesis via a DCC-dependent ERK1/2-eNOS feed-forward mechanism.

    abstract::Netrin-1 is critical for axonal pathfinding which shares similarities with formation of vascular network. Here we report that netrin-1 induction of angiogenesis is mediated by an increase in endothelial nitric oxide (NO*) production, which occurs via a DCC-dependent, ERK1/2-eNOS feed-forward mechanism. Exposure of mat...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0511011103

    authors: Nguyen A,Cai H

    更新日期:2006-04-25 00:00:00

  • Early evidence of San material culture represented by organic artifacts from Border Cave, South Africa.

    abstract::Recent archaeological discoveries have revealed that pigment use, beads, engravings, and sophisticated stone and bone tools were already present in southern Africa 75,000 y ago. Many of these artifacts disappeared by 60,000 y ago, suggesting that modern behavior appeared in the past and was subsequently lost before be...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1204213109

    authors: d'Errico F,Backwell L,Villa P,Degano I,Lucejko JJ,Bamford MK,Higham TF,Colombini MP,Beaumont PB

    更新日期:2012-08-14 00:00:00

  • Demethylation and expression of murine mammary tumor proviruses in mouse thymoma cell lines.

    abstract::Murine mammary tumor virus (MMTV) expression is analyzed in a T-lymphoid cell line (T1M1) sensitive to the killing effect of glucocorticoids and in two of its variants, one resistant (T1M1r) and one supersensitive (T1M1ss) to glucocorticoid-induced lymphocytolysis. In the T1M1 line, MMTV is expressed and induced appro...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.80.1.110

    authors: Mermod JJ,Bourgeois S,Defer N,Crépin M

    更新日期:1983-01-01 00:00:00

  • E1A and E1B proteins inhibit inflammation induced by adenovirus.

    abstract::Replication-defective human adenovirus (Ad) group C transducing vectors, most of which have the E1A, E1B, and E3 genes deleted, are highly inflammatory despite the fact that the parental viruses typically cause subclinical or mild infections. To investigate this paradox, the roles that the E1A, E1B, and E3 genes play ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0303709101

    authors: Schaack J,Bennett ML,Colbert JD,Torres AV,Clayton GH,Ornelles D,Moorhead J

    更新日期:2004-03-02 00:00:00

  • Genome sequencing and comparative analysis of Saccharomyces cerevisiae strain YJM789.

    abstract::We sequenced the genome of Saccharomyces cerevisiae strain YJM789, which was derived from a yeast isolated from the lung of an AIDS patient with pneumonia. The strain is used for studies of fungal infections and quantitative genetics because of its extensive phenotypic differences to the laboratory reference strain, i...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0701291104

    authors: Wei W,McCusker JH,Hyman RW,Jones T,Ning Y,Cao Z,Gu Z,Bruno D,Miranda M,Nguyen M,Wilhelmy J,Komp C,Tamse R,Wang X,Jia P,Luedi P,Oefner PJ,David L,Dietrich FS,Li Y,Davis RW,Steinmetz LM

    更新日期:2007-07-31 00:00:00

  • Antineoplastic activity of poly(L-lysine) with some ascites tumor cells.

    abstract::We have found that poly(L-lysine) can be a very effective agent in preventing the growth of Ehrlich ascites tumors in mice. When given optimal doses of poly(L-lysine) (Mr 60 x 10(3)) intraperitoneally for 5 consecutive days, beginning on day 1 after inoculation with Ehrlich ascites cells. White Swiss mice show nearly ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.76.7.3246

    authors: Arnold LJ Jr,Dagan A,Gutheil J,Kaplan NO

    更新日期:1979-07-01 00:00:00

  • Effects of the U1C L13 mutation and temperature regulation of yeast commitment complex formation.

    abstract::The U1 small nuclear ribonucleoprotein particle U1C protein has a zinc finger-like structure (C2H2 motif) at its N terminus, which is conserved from yeast to humans. Mutations of amino acid L13 within this domain rescue the essential function of the helicase protein Prp28p. Prp28p has been implicated in unwinding the ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0406319101

    authors: Du H,Tardiff DF,Moore MJ,Rosbash M

    更新日期:2004-10-12 00:00:00

  • Oil platforms off California are among the most productive marine fish habitats globally.

    abstract::Secondary (i.e., heterotrophic or animal) production is a main pathway of energy flow through an ecosystem as it makes energy available to consumers, including humans. Its estimation can play a valuable role in the examination of linkages between ecosystem functions and services. We found that oil and gas platforms of...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1411477111

    authors: Claisse JT,Pondella DJ 2nd,Love M,Zahn LA,Williams CM,Williams JP,Bull AS

    更新日期:2014-10-28 00:00:00

  • Highly potent, synthetically accessible prostratin analogs induce latent HIV expression in vitro and ex vivo.

    abstract::Highly active antiretroviral therapy (HAART) decreases plasma viremia below the limits of detection in the majority of HIV-infected individuals, thus serving to slow disease progression. However, HAART targets only actively replicating virus and is unable to eliminate latently infected, resting CD4(+) T cells. Such in...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1302634110

    authors: Beans EJ,Fournogerakis D,Gauntlett C,Heumann LV,Kramer R,Marsden MD,Murray D,Chun TW,Zack JA,Wender PA

    更新日期:2013-07-16 00:00:00

  • Mutations simultaneously affecting endonuclease II and exonuclease III in Escherichia coli.

    abstract::We studied mutants of E. coli originally identified as being deficient in either endonuclease II (deoxyribonucleate oligonucleotidohydrolase, EC 3.1.4.30) or exonuclease III [deoxyribonucleate (double-stranded) 5'-nucleotidohydrolase, EC 3.1.4.27] activity. Twelve independently derived mutants were tested, including t...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.72.2.688

    authors: Yajko DM,Weiss B

    更新日期:1975-02-01 00:00:00

  • Transporters of arsenite in rice and their role in arsenic accumulation in rice grain.

    abstract::Arsenic poisoning affects millions of people worldwide. Human arsenic intake from rice consumption can be substantial because rice is particularly efficient in assimilating arsenic from paddy soils, although the mechanism has not been elucidated. Here we report that two different types of transporters mediate transpor...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0802361105

    authors: Ma JF,Yamaji N,Mitani N,Xu XY,Su YH,McGrath SP,Zhao FJ

    更新日期:2008-07-22 00:00:00

  • A pair of adjacent glucocorticoid response elements regulate expression of two mouse metallothionein genes.

    abstract::Synthesis of mouse metallothionein (MT)-I and MT-II is transcriptionally induced by the synthetic glucocorticoid, dexamethasone (DEX) or both in vivo as well as in numerous cell lines. However, the location(s) of a glucocorticoid response element (GRE) has not been described. The observation that a marked MT-I gene, a...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.94.19.10045

    authors: Kelly EJ,Sandgren EP,Brinster RL,Palmiter RD

    更新日期:1997-09-16 00:00:00

  • Selective fertilization with phosphite allows unhindered growth of cotton plants expressing the ptxD gene while suppressing weeds.

    abstract::Weeds, which have been the bane of agriculture since the beginning of civilization, are managed manually, mechanically, and, more recently, by chemicals. However, chemical control options are rapidly shrinking due to the recent rise in the number of herbicide-resistant weeds in crop fields, with few alternatives on th...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1804862115

    authors: Pandeya D,López-Arredondo DL,Janga MR,Campbell LM,Estrella-Hernández P,Bagavathiannan MV,Herrera-Estrella L,Rathore KS

    更新日期:2018-07-17 00:00:00

  • Dimethylallyl pyrophosphate is not the committed precursor of isopentenyl pyrophosphate during terpenoid biosynthesis from 1-deoxyxylulose in higher plants.

    abstract::Cell cultures of Catharanthus roseus were supplied with [2-13C, 3-2H]-deoxyxylulose or [2-13C,4-2H]1-deoxyxylulose. Lutein and chlorophylls were isolated from the cell mass, and hydrolysis of the chlorophyll mixtures afforded phytol. Isotope labeling patterns of phytol and lutein were determined by 2H NMR and 1H,2H-de...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.96.4.1309

    authors: Arigoni D,Eisenreich W,Latzel C,Sagner S,Radykewicz T,Zenk MH,Bacher A

    更新日期:1999-02-16 00:00:00

  • Loss of CDX1 expression in colorectal carcinoma: promoter methylation, mutation, and loss of heterozygosity analyses of 37 cell lines.

    abstract::Expression of the homeobox protein CDX1 is lost or reduced in a significant proportion of colorectal carcinomas (CRCs) but the underlying mechanism for this is unclear. We have demonstrated absence of CDX1 mRNA expression in 7 of 37 CRC cell lines and shown that all 7 cell lines have a methylated CDX1 promoter. Twenty...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0307190101

    authors: Wong NA,Britton MP,Choi GS,Stanton TK,Bicknell DC,Wilding JL,Bodmer WF

    更新日期:2004-01-13 00:00:00

  • Factors influencing redox potentials of electron transfer proteins.

    abstract::The redox potentials of electron transfer proteins vary over a wide range, even when the type of redox center is the same. Rees [Proc. Natl. Acad. Sci. USA (1985) 82, 3082-3085] proposed that this variation of redox potential partly reflects the different net charges of the proteins, and he presented a linear correlat...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.83.14.4998

    authors: Moore GR,Pettigrew GW,Rogers NK

    更新日期:1986-07-01 00:00:00

  • Receptors of the serotonin 1C subtype expressed from cloned DNA mediate the closing of K+ membrane channels encoded by brain mRNA.

    abstract::The modulation of K+ channels by serotonin (5-HT) receptors was studied by coinjecting Xenopus oocytes with mRNA transcribed in vitro from a cloned 5-HT 1C subtype (5-HT1C) receptor gene, together with size-fractionated mRNA isolated from rat cerebral cortex that expresses K+ channels. After intracellular loading with...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.88.6.2560

    authors: Panicker MM,Parker I,Miledi R

    更新日期:1991-03-15 00:00:00

  • Targeting p53 as a general tumor antigen.

    abstract::A major barrier to the design of immunotherapeutics and vaccines for cancer is the idiosyncratic nature of many tumor antigens and the possibility that T cells may be tolerant of broadly distributed antigens. We have devised an experimental strategy that exploits species differences in protein sequences to circumvent ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.92.26.11993

    authors: Theobald M,Biggs J,Dittmer D,Levine AJ,Sherman LA

    更新日期:1995-12-19 00:00:00

  • The functional analysis of insulator interactions in the Drosophila embryo.

    abstract::Chromatin boundaries or insulators modulate enhancer-promoter interactions in complex genetic loci. However, the mechanism underlying insulator activity is not known. Previous studies showed that the activity of the Drosophila suHw insulator is abolished by the tandem arrangement (pairing) of the insulator elements, s...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0830190100

    authors: Majumder P,Cai HN

    更新日期:2003-04-29 00:00:00

  • Inhibition of hormone-sensitive adenyl cyclase by phenothiazines.

    abstract::Chlorpromazine (3 x 10(-4)M) prevents the stimulation of adenyl cyclase activity in thyroid membranes produced by thyrotropin and prostaglandin, ACTH stimulation of adenyl cyclase in adrenal tissue, and glucagon- and epinephrine-stimulation of adenyl cyclase activity in liver. Baseline activity is unaffected. Parathyr...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.65.2.454

    authors: Wolff J,Jones AB

    更新日期:1970-02-01 00:00:00

  • Microbial production of ammonium ion from nitrogen.

    abstract::Genetic manipulation of nitrogenase and key glutamate-forming enzymes can provide mutants that excrete fixed N2 as NH4+. A derepressed N2 fxation mutant (SK-24) has been isolated , which excretes up to 20.2 mumol of fixed N2 as NH4+ per mg of cell protein in 24 hr at room temperature. Biochemical analysis shows that t...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.72.1.136

    authors: Shanmugam KT,Valentine RC

    更新日期:1975-01-01 00:00:00

  • Proposed molecular mechanism for the action of molybedenum in enzymes: coupled proton and electron transfer.

    abstract::The reactions catalyzed by Mo enzymes each find the product differing from the substrate by two electrons and two protons (or some multiple thereof). The coordination chemistry of Mo suggests that there is a distinct relationship between acid-base and redox properties of Mo complexes, and that a coupled electron-proto...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.70.4.988

    authors: Stiefel EI

    更新日期:1973-04-01 00:00:00

  • 3T3 fibroblasts induce cloned interleukin 3-dependent mouse mast cells to resemble connective tissue mast cells in granular constituency.

    abstract::As assessed by ultrastructure, histochemical staining, and T-cell dependency, in vitro-differentiated inter-leukin 3-dependent mouse mast cells are comparable to the mast cells that reside in the gastrointestinal mucosa but not in the skin or the serosal cavity of the mouse. We now demonstrate that when cloned interle...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.85.2.569

    authors: Dayton ET,Pharr P,Ogawa M,Serafin WE,Austen KF,Levi-Schaffer F,Stevens RL

    更新日期:1988-01-01 00:00:00