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Literature DB >> 20203312

DiGeorge syndrome, Tbx1, and retinoic acid signaling come full circle.

Katherine E Yutzey.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2010 PMID： 20203312 PMCID： PMC2842987 DOI： 10.1161/CIRCRESAHA.109.215319

Source DB: PubMed Journal: Circ Res ISSN： 0009-7330 Impact factor: 17.367

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17 in total

1. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation.

Authors: J G WILSON; C B ROTH; J WARKANY
Journal: Am J Anat Date: 1953-03

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

Authors: S Merscher; B Funke; J A Epstein; J Heyer; A Puech; M M Lu; R J Xavier; M B Demay; R G Russell; S Factor; K Tokooya; B S Jore; M Lopez; R K Pandita; M Lia; D Carrion; H Xu; H Schorle; J B Kobler; P Scambler; A Wynshaw-Boris; A I Skoultchi; B E Morrow; R Kucherlapati
Journal: Cell Date: 2001-02-23 Impact factor: 41.582

3. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.

Authors: D L Guris; J Fantes; D Tara; B J Druker; A Imamoto
Journal: Nat Genet Date: 2001-03 Impact factor: 38.330

4. Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

Authors: Catherine Roberts; Sarah Ivins; Andrew C Cook; Antonio Baldini; Peter J Scambler
Journal: Hum Mol Genet Date: 2006-10-17 Impact factor: 6.150

5. Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.

Authors: Lucile Ryckebüsch; Nicolas Bertrand; Karim Mesbah; Fanny Bajolle; Karen Niederreither; Robert G Kelly; Stéphane Zaffran
Journal: Circ Res Date: 2010-01-28 Impact factor: 17.367

10. Genome sequences of Tropheus moorii and Petrochromis trewavasae, two eco-morphologically divergent cichlid fishes endemic to Lake Tanganyika.

Authors: C Fischer; S Koblmüller; C Börger; G Michelitsch; S Trajanoski; C Schlötterer; C Guelly; G G Thallinger; C Sturmbauer
Journal: Sci Rep Date: 2021-02-22 Impact factor: 4.379

DiGeorge syndrome, Tbx1, and retinoic acid signaling come full circle.

1. An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation.

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

3. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.

4. Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick.

5. Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.

6. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

Review 7. Dissecting contiguous gene defects: TBX1.

Review 8. Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.

9. Retinoic acid embryopathy.

10. A genetic link between Tbx1 and fibroblast growth factor signaling.

Review 1. Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

2. A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

3. Roles of retinoic acid and Tbx1/10 in pharyngeal segmentation: amphioxus and the ancestral chordate condition.

4. Cyp26 Enzymes Facilitate Second Heart Field Progenitor Addition and Maintenance of Ventricular Integrity.

Review 5. Bioactive Lipid Signaling in Cardiovascular Disease, Development, and Regeneration.

Review 6. In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

7. RDH10 function is necessary for spontaneous fetal mouth movement that facilitates palate shelf elevation.

8. Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome.

Review 9. Inborn errors of thymic stromal cell development and function.

10. Genome sequences of Tropheus moorii and Petrochromis trewavasae, two eco-morphologically divergent cichlid fishes endemic to Lake Tanganyika.