Search Results - (Author, Cooperation:J. G. Seidman)
-
1Latest Papers from Table of Contents or Articles in PressJ. Jiang ; H. Wakimoto ; J. G. Seidman ; C. E. Seidman
American Association for the Advancement of Science (AAAS)
Published 2013Staff ViewPublication Date: 2013-10-05Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Alleles ; Animals ; Cardiomyopathy, Hypertrophic/*diagnosis/genetics/pathology ; Dependovirus ; Fibrosis ; Gene Silencing ; *Genetic Therapy ; HEK293 Cells ; Humans ; Mice ; Mutation ; Myosin Heavy Chains/*genetics ; *RNA InterferencePublished by: -
2Latest Papers from Table of Contents or Articles in PressJ. T. Hinson ; A. Chopra ; N. Nafissi ; W. J. Polacheck ; C. C. Benson ; S. Swist ; J. Gorham ; L. Yang ; S. Schafer ; C. C. Sheng ; A. Haghighi ; J. Homsy ; N. Hubner ; G. Church ; S. A. Cook ; W. A. Linke ; C. S. Chen ; J. G. Seidman ; C. E. Seidman
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-09-01Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Adrenergic beta-Agonists/pharmacology ; Cardiomyopathy, Dilated/*genetics/pathology/*physiopathology ; Cells, Cultured ; Connectin/chemistry/*genetics/*physiology ; Heart Rate ; Humans ; Induced Pluripotent Stem Cells/*physiology ; Isoproterenol/pharmacology ; Mutant Proteins/chemistry/physiology ; *Mutation, Missense ; Myocardial Contraction ; Myocytes, Cardiac/*physiology ; RNA/genetics/metabolism ; Sarcomeres/*physiology/ultrastructure ; Sequence Analysis, RNA ; Signal Transduction ; Stress, PhysiologicalPublished by: -
3Latest Papers from Table of Contents or Articles in PressA small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in miceE. M. Green ; H. Wakimoto ; R. L. Anderson ; M. J. Evanchik ; J. M. Gorham ; B. C. Harrison ; M. Henze ; R. Kawas ; J. D. Oslob ; H. M. Rodriguez ; Y. Song ; W. Wan ; L. A. Leinwand ; J. A. Spudich ; R. S. McDowell ; J. G. Seidman ; C. E. Seidman
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-02-26Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsPublished by: -
4Latest Papers from Table of Contents or Articles in PressDe novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJ. Homsy ; S. Zaidi ; Y. Shen ; J. S. Ware ; K. E. Samocha ; K. J. Karczewski ; S. R. DePalma ; D. McKean ; H. Wakimoto ; J. Gorham ; S. C. Jin ; J. Deanfield ; A. Giardini ; G. A. Porter, Jr. ; R. Kim ; K. Bilguvar ; F. Lopez-Giraldez ; I. Tikhonova ; S. Mane ; A. Romano-Adesman ; H. Qi ; B. Vardarajan ; L. Ma ; M. Daly ; A. E. Roberts ; M. W. Russell ; S. Mital ; J. W. Newburger ; J. W. Gaynor ; R. E. Breitbart ; I. Iossifov ; M. Ronemus ; S. J. Sanders ; J. R. Kaltman ; J. G. Seidman ; M. Brueckner ; B. D. Gelb ; E. Goldmuntz ; R. P. Lifton ; C. E. Seidman ; W. K. Chung
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-01-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Brain/abnormalities/metabolism ; Child ; Congenital Abnormalities/genetics ; Exome/genetics ; Heart Defects, Congenital/*diagnosis/*genetics ; Humans ; Mutation ; Nervous System Malformations/*genetics ; Neurogenesis/*genetics ; Prognosis ; RNA Splicing/genetics ; RNA, Messenger/genetics ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics ; Transcription, GeneticPublished by: -
5Latest Papers from Table of Contents or Articles in PressS. Zaidi ; M. Choi ; H. Wakimoto ; L. Ma ; J. Jiang ; J. D. Overton ; A. Romano-Adesman ; R. D. Bjornson ; R. E. Breitbart ; K. K. Brown ; N. J. Carriero ; Y. H. Cheung ; J. Deanfield ; S. DePalma ; K. A. Fakhro ; J. Glessner ; H. Hakonarson ; M. J. Italia ; J. R. Kaltman ; J. Kaski ; R. Kim ; J. K. Kline ; T. Lee ; J. Leipzig ; A. Lopez ; S. M. Mane ; L. E. Mitchell ; J. W. Newburger ; M. Parfenov ; I. Pe'er ; G. Porter ; A. E. Roberts ; R. Sachidanandam ; S. J. Sanders ; H. S. Seiden ; M. W. State ; S. Subramanian ; I. R. Tikhonova ; W. Wang ; D. Warburton ; P. S. White ; I. A. Williams ; H. Zhao ; J. G. Seidman ; M. Brueckner ; W. K. Chung ; B. D. Gelb ; E. Goldmuntz ; C. E. Seidman ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-05-15Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adult ; Case-Control Studies ; Child ; Chromatin/chemistry/metabolism ; DNA Mutational Analysis ; Enhancer Elements, Genetic/genetics ; Exome/genetics ; Female ; Genes, Developmental/genetics ; Heart Diseases/*congenital/*genetics/metabolism ; Histones/chemistry/*metabolism ; Humans ; Lysine/chemistry/metabolism ; Male ; Methylation ; Mutation ; Odds Ratio ; Promoter Regions, Genetic/geneticsPublished by: -
6Articles: DFG German National LicensesKayyali, Usamah S. ; Zhang, Wei ; Yee, Ann G. ; Seidman, J. G. ; Potter, Huntington
Oxford, UK : Blackwell Science Ltd
Published 1997Staff ViewISSN: 1471-4159Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Abstract: Hyperphosphorylated τ, the major component of the paired helical filaments of Alzheimer's disease, was found to accumulate in the brains of mice in which the calcineurin Aα gene was disrupted [calcineurin Aα knockout (CNAα−/−)]. The hyperphosphorylation involved several sites on τ, especially the Ser396 and/or Ser404 recognized by the PHF-1 monoclonal antibody. The increase in phosphorylated τ content occurred primarily in the mossy fibers of the CNAα−/− hippocampus, which contained the highest level of calcineurin in brains of wild-type mice. The CNAα−/− mossy fibers also contained less neurofilament protein than normal, although the overall level of neurofilament phosphorylation was unchanged. In the electron microscope, the mossy fibers of CNAα−/− mice exhibited abnormalities in their cytoskeleton and a lower neurofilament/microtubule ratio than those of wild-type animals. These findings indicate that hyperphosphorylated τ can accumulate in vivo as a result of reduced calcineurin activity and is accompanied by cytoskeletal changes that are likely to have functional consequences on the affected neurons. The CNAα−/− mice were found in a separate study to have deficits in learning and memory that may result in part from the cytoskeletal changes in the hippocampus.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesMurre, Cornells ; Reiss, Carol S. ; Bernabeu, Carmelo ; Chen, Lan Bo ; Burakoff, Steven J. ; Seidman, J. G.
[s.l.] : Nature Publishing Group
Published 1984Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] A mouse major histocompatibility antigen (H–2) gene, encoding a novel H–2Ld molecule lacking its intracytoplasmic domain, has been constructed and introduced into mouse L-cells. The novel H–2 molecule is found on the surface of the transfected cells at the same ...Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesTsukurov, Olga ; Boehmer, Annemie ; Flynn, Jack ; Nicolai, Jean-Philippe ; Hamel, Ben C. J. ; Traill, Saskia ; Zaleske, David ; Mankin, Henry J. ; Yeon, Howard ; Ho, Chrystal ; Tabin, Cliff ; Seidman, J. G. ; Seidman, Christine
[s.l.] : Nature Publishing Group
Published 1994Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 ...Type of Medium: Electronic ResourceURL: -
9Articles: DFG German National LicensesPollak, Martin R. ; Wu Chou, Yah-Huei ; Cerda, James J. ; Steinmann, Beat ; La Du, Bert N. ; Seidman, J. G. ; Seidman, Christine E.
[s.l.] : Nature Publishing Group
Published 1993Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that darkens urine and causes a debilitating arthritis termed ochronosis. We have studied two families with consanguineous parents and four affected children in order to map ...Type of Medium: Electronic ResourceURL: -
10Articles: DFG German National LicensesPollak, Martin R. ; Brown, Edward M. ; Estep, Herschel L. ; McLaine, Peter N. ; Kifor, Olga ; Park, Ji ; Hebert, Steven C. ; Seidman, Christine E. ; Seidman, J. G.
[s.l.] : Nature Publishing Group
Published 1994Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] Defects in the human Ca2+-sensing receptor gene have recently been shown to cause familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. We now demonstrate that a missense mutation (Glu128Ala) in this gene causes familial hypocalcaemia in affected members of one family. ...Type of Medium: Electronic ResourceURL: -
11Articles: DFG German National LicensesSchönberger, Jost ; Wang, Libin ; Shin, Jordan T ; Kim, Sang Do ; Depreux, Frederic F S ; Zhu, Hao ; Zon, Leonard ; Pizard, Anne ; Kim, Jae B ; MacRae, Calum A ; Mungall, Andy J ; Seidman, J G ; Seidman, Christine E
[s.l.] : Nature Publishing Group
Published 2005Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] We identified a human mutation that causes dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss (SNHL). Unlike previously described mutations causing dilated cardiomyopathy that affect structural proteins, this mutation deletes 4,846 bp of the human transcriptional ...Type of Medium: Electronic ResourceURL: -
12Articles: DFG German National LicensesChou, Yah-Huei Wu ; Brown, Edward M. ; Levi, Tatyana ; Crowe, Gail ; Brew Atkinson, A. ; Arnqvist, Hans J. ; Toss, Goran ; El-Hajj Fuleihan, Ghada ; Seidman, J. G. ; Seidman, Christine E.
[s.l.] : Nature Publishing Group
Published 1992Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant syndrome of unknown aetiology characterized by lifelong elevation in serum calcium concentration and low urinary calcium excretion. These features suggest that the causal gene is important for maintenance of extracellular calcium ...Type of Medium: Electronic ResourceURL: -
13Articles: DFG German National LicensesBrenner, Michael B. ; McLean, Joanne ; Scheft, Harriet ; Riberdy, Janice ; Ang, Siew-Lan ; Seidman, J. G. ; Devlin, Peter ; Krangel, Michael S.
[s.l.] : Nature Publishing Group
Published 1987Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The T-cell receptor (TCR) γ polypeptide is expressed associated with CD3(T3) on the surface of normal human peripheral blood lymphocytes. These cells function as non-MHC-restricted cytotoxic T lymphocytes (CTL) and thus may play an important role in host immune defence. The TCR γ ...Type of Medium: Electronic ResourceURL: -
14Articles: DFG German National LicensesBorst, Jannie ; van de Griend, René J. ; van Oostveen, Johan W. ; Ang, Siew-Lan ; Melief, Cornelis J. ; Seidman, J. G. ; Bolhuis, Reinder L. H.
[s.l.] : Nature Publishing Group
Published 1987Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] Cloned blood lymphocytes that do not express the α- and β-chains of the T-cell receptor show MHC-unrestricted cytotoxicity. These cells carry the γ-protein, disulphide-linked either to another molecule or to itself, and associated with the CD3 complex. These observations may help ...Type of Medium: Electronic ResourceURL: -
15Articles: DFG German National LicensesStaff View
ISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The structure of the I-Abb gene has been completely determined4,15 and is shown schematically in Fig. 1. A 6.5-kilobase (kb) EcoRI fragment carrying most of the I-Abbm12 gene was cloned from bm12 genomic DNA into bacteriophage ? and subsequently into the plasmid pBR327 (see Fig. 1). Single and ...Type of Medium: Electronic ResourceURL: -
16Articles: DFG German National LicensesSEIDMAN, J. G. ; EDGELL, MARSHALL H. ; LEDER, PHILIP
[s.l.] : Nature Publishing Group
Published 1978Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] Fig. 1 DNAs from plasmids (1) pCRl, (2) p[3G2 (ref. 20), and (3) pCRl-K40 were digested with SI nuclease in 40% formamide and fractionated on a 2% agarose gel run from top to bottom. The exact conditions for digestion of the DNA are as described by Hofstetter et "/.25. a, Bands identified by ...Type of Medium: Electronic ResourceURL: -
17Articles: DFG German National LicensesStaff View
ISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The ubiquity of tRNA-like conformations in tRNA precursors of prokaryotes provides a common structural basis for precursor recognition by the maturation enzymes. This design eliminates the need for multiple enzymes to achieve the maturation of different precursors. Moreover, the requirement of this ...Type of Medium: Electronic ResourceURL: -
18Articles: DFG German National LicensesMargulies, David H. ; Evans, Glen A. ; Flaherty, Lorraine ; Seidman, J. G.
[s.l.] : Nature Publishing Group
Published 1982Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] Initial studies of the number of genes in the H-2 family11'12 used cDNA probes complementary to portions of the H-2-like mRNA. Thus, the precise relationship between the structure of the probe and the sequences detected in Southern blotting experiments is uncertain. If these probes span intervening ...Type of Medium: Electronic ResourceURL: -
19Articles: DFG German National LicensesStaff View
ISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] Cloned segments of mouse chromosomal DNA provide direct evidence for the somatic rearrangement of κ variable and constant region genes in antibody producing cells. This rearrangement apparently affects only one member of an allelic pair of light chain ...Type of Medium: Electronic ResourceURL: -
20Articles: DFG German National LicensesStaff View
ISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The active gene for a κ light chain is formed by a somatic recombination event that joins one of several hundred variable region genes to one of a series of recombination sites (J-segments) encoded close to the κ constant region gene. The nucleotide sequences of cloned germ line and ...Type of Medium: Electronic ResourceURL: