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Titolo:
TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome
Autore:
Merscher, S; Funke, B; Epstein, JA; Heyer, J; Puech, A; Lu, MM; Xavier, RJ; Demay, MB; Russell, RG; Factor, S; Tokooya, K; Jore, BS; Lopez, M; Pandita, RK; Lia, M; Carrion, D; Xu, H; Schorle, H; Kobler, JB; Scambler, P; Wynshaw-Boris, A; Skoultchi, AI; Morrow, BE; Kucherlapati, R;
Indirizzi:
Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USAYeshiva Univ Albert Einstein Coll Med Bronx NY USA 10461 nx, NY 10461 USA Yeshiva Univ Albert Einstein Coll Med, Dept Cell Biol, Bronx, NY 10461 USAYeshiva Univ Albert Einstein Coll Med Bronx NY USA 10461 nx, NY 10461 USA Yeshiva Univ Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10461 USA Yeshiva Univ Albert Einstein Coll Med Bronx NY USA 10461 nx, NY 10461 USA Univ Penn, Div Cardiovasc, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 ardiovasc, Philadelphia, PA 19104 USA Univ Calif San Diego, Sch Med, Dept Med, La Jolla, CA 92093 USA Univ CalifSan Diego La Jolla CA USA 92093 pt Med, La Jolla, CA 92093 USA Univ London, Coll Med, Inst Child Hlth, London, England Univ London London England , Coll Med, Inst Child Hlth, London, England Massachusetts Gen Hosp, Endocrine Unit, Boston, MA 02114 USA MassachusettsGen Hosp Boston MA USA 02114 ine Unit, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA Massachusetts Gen Hosp Boston MA USA 02114 Mol Biol, Boston, MA 02114 USA Forschungszentrum Karlsruhe, Inst Genet & Toxikol, D-76133 Karlsruhe, Germany Forschungszentrum Karlsruhe Karlsruhe Germany D-76133 Karlsruhe, Germany Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med,Dept Otol & Laryngol, HP Mosher Laryngol Res Lab, Boston, MA 02114 USA Harvard Univ Boston MA USA 02114 r Laryngol Res Lab, Boston, MA 02114 USA
Titolo Testata:
CELL
fascicolo: 4, volume: 104, anno: 2001,
pagine: 619 - 629
SICI:
0092-8674(20010223)104:4<619:TIRFCD>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL HEART-DISEASE; DIGEORGE-SYNDROME REGION; HOLT-ORAM-SYNDROME; NEURAL CREST CELLS; FACIAL-SYNDROME; 22Q11 DELETIONS; MOLECULAR DEFINITION; MICE DEFICIENT; GENE; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Morrow, BE Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, 1300 Morris Pk Ave,Bronx, NY 10461 USA Yeshiva Univ Albert Einstein Coll Med 1300 Morris Pk Ave Bronx NY USA 10461
Citazione:
S. Merscher et al., "TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome", CELL, 104(4), 2001, pp. 619-629

Abstract

Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethalityand have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These resultstogether with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 22:02:25