Search

Your search keyword '"Slonimsky, Esfir"' showing total 11 results
Start Over Author "Slonimsky, Esfir"
11 results on '"Slonimsky, Esfir"'

2. Targeted deletion of the MLC1f/3f downstream enhancer results in precocious MLC expression and mesoderm ablation

Author

Jiang, Ping, Song, Jihwan, Gu, Guoqing, Slonimsky, Esfir, Li, En, and Rosenthal, Nadia

Subjects
Striated muscle -- Genetic aspects, Muscle proteins -- Genetic aspects, Developmental genetics -- Research, Biological sciences
Abstract

The expression of skeletal muscle contractile proteins is tightly regulated during embryonic development. In the mouse, the myosin light chain (MLC) 1f/3f gene locus is not activated until E9.5, exclusively in skeletal muscle precursor cells. A potent enhancer downstream of the MLC1f/3f locus confers correct temporal and spatial activation of linked reporter gene in transgenic mouse embryos. To examine roles of the MLC downstream enhancer (MLCE) in its native context of the MLC1f/3f gene locus, we eliminated a 1.5-kb DNA segment containing the enhancer from the mouse genome by targeted deletion, leaving no exogenous sequences at the deletion site. Mouse embryos homozygous for the MLCE deletion were smaller and developmentally delayed, formed no mesoderm by E7.5, and were resorbed almost completely at E8.5. In situ hybridization and RT-PCR analyses of affected mutant embryos at E7.5 revealed ectopic MLC transcripts, whose products would be predicted to interfere with a variety of nonmuscle cell functions determining differentiation of mesoderm. These results suggest that the MLC downstream enhancer and its flanking sequences include negative regulatory elements which block precocious activation of MLC expression in mesodermal precursors during a critical window of development, as well as positive elements which subsequently permit tissue-restricted MLC transcription in differentiating skeletal muscles. Key Words: enhancer; myosin; mouse development.

Published
2002

5. Insights into the organization of dorsal spinal cord pathways from an evolutionarily conserved raldh2 intronic enhancer

Author

Castillo, Hozana A., primary, Cravo, Roberta M., additional, Azambuja, Ana P., additional, Simões-Costa, Marcos S., additional, Sura-Trueba, Sylvia, additional, Gonzalez, Jose, additional, Slonimsky, Esfir, additional, Almeida, Karla, additional, Abreu, José G., additional, de Almeida, Marcio A. Afonso, additional, Sobreira, Tiago P., additional, de Oliveira, Saulo H. Pires, additional, de Oliveira, Paulo S. Lopes, additional, Signore, Iskra A., additional, Colombo, Alicia, additional, Concha, Miguel L., additional, Spengler, Tatjana S., additional, Bronner-Fraser, Marianne, additional, Nobrega, Marcelo, additional, Rosenthal, Nadia, additional, and Xavier-Neto, José, additional

Published
2010
Full Text
View/download PDF

9. Enhancing Repair of the Mammalian Heart

Author

Santini, Maria Paola, primary, Tsao, Lana, additional, Monassier, Laurent, additional, Theodoropoulos, Catherine, additional, Carter, Janice, additional, Lara-Pezzi, Enrique, additional, Slonimsky, Esfir, additional, Salimova, Ekaterina, additional, Delafontaine, Patrice, additional, Song, Yao-Hua, additional, Bergmann, Martin, additional, Freund, Christian, additional, Suzuki, Ken, additional, and Rosenthal, Nadia, additional

Published
2007
Full Text
View/download PDF

10. Regulatory enhancers in the RALDH2 gene

Author

Cravo, Roberta, primary, Castillo, Hozana, additional, Simoes-Costa, Marcos, additional, Nobrega, Marcelo, additional, Gonzalez, Jose, additional, Slonimsky, Esfir, additional, Rosenthal, N., additional, and Xavier-Neto, José, additional

Published
2007
Full Text
View/download PDF

11. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

Author

Catela, Catarina, Bilbao-Cortes, Daniel, Slonimsky, Esfir, Kratsios, Paschalis, Rosenthal, Nadia, and te Welscher, Pascal

Abstract

Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. Fgfrl1 null mutants also display a transient foetal anaemia and a fully penetrant diaphragm defect, causing prenatal and perinatal lethality. Together, these data support a wider role for Fgfrl1 in development, implicate FGFRL1 insufficiency in WHS, and provide a novel animal model to dissect the complex aetiology of this human disease.

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results