当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice.

Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice.

Abstract：

:Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithelial cells, and CFTR protein in respiratory epithelial cells. While the level of expression of hCFTR mRNA varied, hCFTR mRNA and protein were detected in pulmonary epithelial cells of several lines. Lung weight, morphology, somatic growth and reproductive capacity were not altered by expression hCFTR in lung and testes of the transgenics. Our findings suggest that hCFTR can be safely transferred to lung epithelial cells for CF therapy.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

doi

10.1038/ng0992-13

keywords:

subject

Has Abstract,Author List Incomplete

pub_date

1992-09-01 00:00:00

pages

13-20

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

2

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

    abstract：:Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0194-9

    authors： Koide R,Ikeuchi T,Onodera O,Tanaka H,Igarashi S,Endo K,Takahashi H,Kondo R,Ishikawa A,Hayashi T

    更新日期：1994-01-01 00:00:00

  • RAF1 mutations in childhood-onset dilated cardiomyopathy.

    abstract：:Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2963

    authors： Dhandapany PS,Razzaque MA,Muthusami U,Kunnoth S,Edwards JJ,Mulero-Navarro S,Riess I,Pardo S,Sheng J,Rani DS,Rani B,Govindaraj P,Flex E,Yokota T,Furutani M,Nishizawa T,Nakanishi T,Robbins J,Limongelli G,Hajjar RJ,L

    更新日期：2014-06-01 00:00:00

  • MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

    abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0794-408

    authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

    更新日期：1994-07-01 00:00:00

  • Accelerated genetic drift on chromosome X during the human dispersal out of Africa.

    abstract：:Comparisons of chromosome X and the autosomes can illuminate differences in the histories of males and females as well as shed light on the forces of natural selection. We compared the patterns of variation in these parts of the genome using two datasets that we assembled for this study that are both genomic in scale....

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.303

    authors： Keinan A,Mullikin JC,Patterson N,Reich D

    更新日期：2009-01-01 00:00:00

  • Probabilistic fine-mapping of transcriptome-wide association studies.

    abstract：:Transcriptome-wide association studies using predicted expression have identified thousands of genes whose locally regulated expression is associated with complex traits and diseases. In this work, we show that linkage disequilibrium induces significant gene-trait associations at non-causal genes as a function of the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0367-1

    authors： Mancuso N,Freund MK,Johnson R,Shi H,Kichaev G,Gusev A,Pasaniuc B

    更新日期：2019-04-01 00:00:00

  • A brief history of gene therapy.

    abstract：:The concepts of gene therapy arose initially during the 1960s and early 1970s whilst the development of genetically marked cells lines and the clarification of mechanisms of cell transformation by the papaovaviruses polyoma and SV40 was in progress. With the arrival of recombinant DNA techniques, cloned genes became a...

    journal_title：Nature genetics

    pub_type： 历史文章,杂志文章,评审

    doi：10.1038/ng1092-93

    authors： Friedmann T

    更新日期：1992-10-01 00:00:00

  • Divergent evolutionary trajectories in transplanted tumor models.

    abstract：:Human-derived tumor models are becoming popular in the context of personalized medicine, but a new study shows that these models could be less representative of primary tumors than previously thought, particularly when using late passages. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3983

    authors： Villacorta-Martin C,Craig AJ,Villanueva A

    更新日期：2017-10-27 00:00:00

  • Minisatellite diversity supports a recent African origin for modern humans.

    abstract：:In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0696-154

    authors： Armour JA,Anttinen T,May CA,Vega EE,Sajantila A,Kidd JR,Kidd KK,Bertranpetit J,Pääbo S,Jeffreys AJ

    更新日期：1996-06-01 00:00:00

  • The apolipoprotein(a) gene is regulated by sex hormones and acute-phase inducers in YAC transgenic mice.

    abstract：:High plasma concentrations of apolipoprotein (a) (apo(a)) have been implicated as a major independent risk factor for atherosclerosis in humans. Apo(a) is a large, evolutionarily new gene (present primarily in primates) for which considerable controversy exists concerning the factors that regulate its expression. To i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0495-424

    authors： Frazer KA,Narla G,Zhang JL,Rubin EM

    更新日期：1995-04-01 00:00:00

  • A genetics-led approach defines the drug target landscape of 30 immune-related traits.

    abstract：:Most candidate drugs currently fail later-stage clinical trials, largely due to poor prediction of efficacy on early target selection1. Drug targets with genetic support are more likely to be therapeutically valid2,3, but the translational use of genome-scale data such as from genome-wide association studies for drug ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0456-1

    authors： Fang H,ULTRA-DD Consortium.,De Wolf H,Knezevic B,Burnham KL,Osgood J,Sanniti A,Lledó Lara A,Kasela S,De Cesco S,Wegner JK,Handunnetthi L,McCann FE,Chen L,Sekine T,Brennan PE,Marsden BD,Damerell D,O'Callaghan CA,Boun

    更新日期：2019-07-01 00:00:00

  • A map of constrained coding regions in the human genome.

    abstract：:Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0294-6

    authors： Havrilla JM,Pedersen BS,Layer RM,Quinlan AR

    更新日期：2019-01-01 00:00:00

  • Human artificial episomal chromosomes for cloning large DNA fragments in human cells.

    abstract：:We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0994-33

    authors： Sun TQ,Fenstermacher DA,Vos JM

    更新日期：1994-09-01 00:00:00

  • Convergent evolution of the genomes of marine mammals.

    abstract：:Marine mammals from different mammalian orders share several phenotypic traits adapted to the aquatic environment and therefore represent a classic example of convergent evolution. To investigate convergent evolution at the genomic level, we sequenced and performed de novo assembly of the genomes of three species of m...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3198

    authors： Foote AD,Liu Y,Thomas GW,Vinař T,Alföldi J,Deng J,Dugan S,van Elk CE,Hunter ME,Joshi V,Khan Z,Kovar C,Lee SL,Lindblad-Toh K,Mancia A,Nielsen R,Qin X,Qu J,Raney BJ,Vijay N,Wolf JB,Hahn MW,Muzny DM,Worley KC,

    更新日期：2015-03-01 00:00:00

  • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

    abstract：:Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0498-365

    authors： Minetti C,Sotgia F,Bruno C,Scartezzini P,Broda P,Bado M,Masetti E,Mazzocco M,Egeo A,Donati MA,Volonte D,Galbiati F,Cordone G,Bricarelli FD,Lisanti MP,Zara F

    更新日期：1998-04-01 00:00:00

  • Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

    abstract：:Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people. Although 4 million people are bilaterally blind from ACG, the causative molecular mechanisms of ACG remain to be defined. High intraocular pressure induces glaucoma in ACG. High intraocular pressure traditionally was suggested to result ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.813

    authors： Nair KS,Hmani-Aifa M,Ali Z,Kearney AL,Ben Salem S,Macalinao DG,Cosma IM,Bouassida W,Hakim B,Benzina Z,Soto I,Söderkvist P,Howell GR,Smith RS,Ayadi H,John SW

    更新日期：2011-06-01 00:00:00

  • Modifiers of epigenetic reprogramming show paternal effects in the mouse.

    abstract：:There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2031

    authors： Chong S,Vickaryous N,Ashe A,Zamudio N,Youngson N,Hemley S,Stopka T,Skoultchi A,Matthews J,Scott HS,de Kretser D,O'Bryan M,Blewitt M,Whitelaw E

    更新日期：2007-05-01 00:00:00

  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

    abstract：:The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/72807

    authors： Shackleton S,Lloyd DJ,Jackson SN,Evans R,Niermeijer MF,Singh BM,Schmidt H,Brabant G,Kumar S,Durrington PN,Gregory S,O'Rahilly S,Trembath RC

    更新日期：2000-02-01 00:00:00

  • Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

    abstract：:Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated wi...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0797-307

    authors： Lee B,Thirunavukkarasu K,Zhou L,Pastore L,Baldini A,Hecht J,Geoffroy V,Ducy P,Karsenty G

    更新日期：1997-07-01 00:00:00

  • The chromo and SET domains of the Clr4 protein are essential for silencing in fission yeast.

    abstract：:Heritable inactivation of specific regions of the genome is a widespread, possibly universal phenomenon for gene regulation in eukaryotes. Self-perpetuating, clonally inherited chromatin structure has been proposed as the explanation for such phenomena as position-effect variegation (PEV) and control of segment determ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/566

    authors： Ivanova AV,Bonaduce MJ,Ivanov SV,Klar AJ

    更新日期：1998-06-01 00:00:00

  • Author Correction: Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Nature genetics

    pub_type： 已发布勘误

    doi：10.1038/s41588-020-0588-3

    authors： Chan-Seng-Yue M,Kim JC,Wilson GW,Ng K,Figueroa EF,O'Kane GM,Connor AA,Denroche RE,Grant RC,McLeod J,Wilson JM,Jang GH,Zhang A,Liang SB,Borgida A,Chadwick D,Kalimuthu S,Lungu I,Bartlett JMS,Krzyzanowski PM,Sandhu V

    更新日期：2020-04-01 00:00:00

  • Transferability of tag SNPs in genetic association studies in multiple populations.

    abstract：:A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1899

    authors： de Bakker PI,Burtt NP,Graham RR,Guiducci C,Yelensky R,Drake JA,Bersaglieri T,Penney KL,Butler J,Young S,Onofrio RC,Lyon HN,Stram DO,Haiman CA,Freedman ML,Zhu X,Cooper R,Groop L,Kolonel LN,Henderson BE,Daly MJ,Hi

    更新日期：2006-11-01 00:00:00

  • Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

    abstract：:To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = ...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.567

    authors： Freathy RM,Mook-Kanamori DO,Sovio U,Prokopenko I,Timpson NJ,Berry DJ,Warrington NM,Widen E,Hottenga JJ,Kaakinen M,Lange LA,Bradfield JP,Kerkhof M,Marsh JA,Mägi R,Chen CM,Lyon HN,Kirin M,Adair LS,Aulchenko YS,Benne

    更新日期：2010-05-01 00:00:00

  • LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.

    abstract：:Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3211

    authors： Bulik-Sullivan BK,Loh PR,Finucane HK,Ripke S,Yang J,Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Patterson N,Daly MJ,Price AL,Neale BM

    更新日期：2015-03-01 00:00:00

  • A co-clinical approach identifies mechanisms and potential therapies for androgen deprivation resistance in prostate cancer.

    abstract：:Here we report an integrated analysis that leverages data from treatment of genetic mouse models of prostate cancer along with clinical data from patients to elucidate new mechanisms of castration resistance. We show that castration counteracts tumor progression in a Pten loss-driven mouse model of prostate cancer thr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2650

    authors： Lunardi A,Ala U,Epping MT,Salmena L,Clohessy JG,Webster KA,Wang G,Mazzucchelli R,Bianconi M,Stack EC,Lis R,Patnaik A,Cantley LC,Bubley G,Cordon-Cardo C,Gerald WL,Montironi R,Signoretti S,Loda M,Nardella C,Pandolfi

    更新日期：2013-07-01 00:00:00

  • Toward genome-wide SNP genotyping.

    abstract：:Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1558

    authors： Syvänen AC

    更新日期：2005-06-01 00:00:00

  • C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

    abstract：:Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal p...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng2082

    authors： Richards A,van den Maagdenberg AM,Jen JC,Kavanagh D,Bertram P,Spitzer D,Liszewski MK,Barilla-Labarca ML,Terwindt GM,Kasai Y,McLellan M,Grand MG,Vanmolkot KR,de Vries B,Wan J,Kane MJ,Mamsa H,Schäfer R,Stam AH,Haan J

    更新日期：2007-09-01 00:00:00

  • Integrated human genome-wide maps constructed using the CEPH reference panel.

    abstract：:High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0494-391

    authors： Buetow KH,Weber JL,Ludwigsen S,Scherpbier-Heddema T,Duyk GM,Sheffield VC,Wang Z,Murray JC

    更新日期：1994-04-01 00:00:00

  • Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.

    abstract：:Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.29

    authors： Mi W,Pawlik M,Sastre M,Jung SS,Radvinsky DS,Klein AM,Sommer J,Schmidt SD,Nixon RA,Mathews PM,Levy E

    更新日期：2007-12-01 00:00:00

  • Lineage-specific functions of TET1 in the postimplantation mouse embryo.

    abstract：:The mammalian TET enzymes catalyze DNA demethylation. While they have been intensely studied as major epigenetic regulators, little is known about their physiological roles and the extent of functional redundancy following embryo implantation. Here we define non-redundant roles for TET1 at an early postimplantation st...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3868

    authors： Khoueiry R,Sohni A,Thienpont B,Luo X,Velde JV,Bartoccetti M,Boeckx B,Zwijsen A,Rao A,Lambrechts D,Koh KP

    更新日期：2017-07-01 00:00:00

  • Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

    abstract：:We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 regio...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2609

    authors： Fingerlin TE,Murphy E,Zhang W,Peljto AL,Brown KK,Steele MP,Loyd JE,Cosgrove GP,Lynch D,Groshong S,Collard HR,Wolters PJ,Bradford WZ,Kossen K,Seiwert SD,du Bois RM,Garcia CK,Devine MS,Gudmundsson G,Isaksson HJ,Kami

    更新日期：2013-06-01 00:00:00