TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

Cell

Volumn 104, Issue 4, 2001, Pages 619-629

  Merscher, Sandra ^a   Funke, Birgit ^a   Epstein, Jonathan A ^b   Heyer, Joerg ^a   Puech, Anne ^a   Lu, Min Min ^b   Xavier, Ramnik J ^e   Demay, Marie B ^e   Russell, Robert G ^a   Factor, Stephen ^a   Tokooya, Kazuhito ^c   Jore, Bruno St ^a   Lopez, Melissa ^a   Pandita, Raj K ^a   Lia, Marie ^a   Carrion, Danaise ^a   Xu, Hui ^a   Schorle, Hubert ^f   Kobler, James B ^g   Scambler, Peter ^d   Wynshaw Boris, Anthony ^c   Skoultchi, Arthur I ^a   Morrow, Bernice E ^a   Kucherlapati, Raju ^a   more..

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f Foschungszentrum Karlsruhe Institut fuer Toxikologie und Genetik   (Germany)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX1; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; EMBRYO; FEMALE; GENE MUTATION; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARATHYROID DISEASE; PRIORITY JOURNAL; TRANSGENIC MOUSE; VELOCARDIOFACIAL SYNDROME;

ANIMALIA; MUS MUSCULUS;

EID: 17744395906     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(01)00247-1     Document Type: Article

References (36)

1. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
2. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations
3. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
4. The septin CDCrel-1 binds syntaxin and inhibits exocytosis
5. Dependence of thymus development on derivatives of the neural crest
6. Effect of neural crest ablation on development of the heart and arch arteries in the chick
7. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
8. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development
9. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
10. The spectrum of the DiGeorge syndrome
11. Role of cardiac neural crest cells in cardiovascular development
12. A new concept of the cellular basis of immunity
13. The DNA sequence of human chromosome 22
14. Transcriptional regulation of cardiac development: Implications for congenital heart disease and DiGeorge syndrome
15. DiGeorge syndrome presenting as severe congenital heart disease in the newborn
16. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11
17. Velo-cardio-facial syndrome: A review of 120 patients
18. Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse
19. Role of neural crest in congenital heart disease
20. Neural crest cells contribute to normal aorticopulmonary septation
21. Zp3-cre, a transgenic mouse line for the activation or inactivation of loxP-flanked target genes specifically in the female germ line
22. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
23. Congenital heart disease in mice deficient for the DiGeorge syndrome region
24. Expression of cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
25. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11
26. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
27. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region
28. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
29. Thyroid abnormalities as a feature of DiGeorge syndrome: A patient report and review of the literature
30. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
31. The expanded velo-cardio-facial syndrome (VCF): Additional features of the most common clefting syndrome
32. Molecular insights into cardiac development
33. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
34. Generation and rescue of a murine model of platelet dysfunction: The Bernard-Soulier syndrome
35. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta