The Experts below are selected from a list of 153 Experts worldwide ranked by ideXlab platform
Claudio Osmar Pereira Alexandre - One of the best experts on this subject based on the ideXlab platform.
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cleft lip palate and cdh1 e cadherin mutations in families with hereditary diffuse gastric cancer
Journal of Medical Genetics, 2005Co-Authors: Thierry Frebourg, Carla Oliveira, P Hochain, Rachid Karam, Sylvie Manouvrier, C Graziadio, Michel Vekemans, A Hartmann, Stephanie Baertdesurmont, Claudio Osmar Pereira AlexandreAbstract:We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the Frontonasal Prominence, and at 6 weeks in the lateral and medial nasal Prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.
Thierry Frebourg - One of the best experts on this subject based on the ideXlab platform.
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cleft lip palate and cdh1 e cadherin mutations in families with hereditary diffuse gastric cancer
Journal of Medical Genetics, 2005Co-Authors: Thierry Frebourg, Carla Oliveira, P Hochain, Rachid Karam, Sylvie Manouvrier, C Graziadio, Michel Vekemans, A Hartmann, Stephanie Baertdesurmont, Claudio Osmar Pereira AlexandreAbstract:We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the Frontonasal Prominence, and at 6 weeks in the lateral and medial nasal Prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.
Samantha A Brugmann - One of the best experts on this subject based on the ideXlab platform.
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Cilia-dependent GLI processing in neural crest cells is required for tongue development
Developmental Biology, 2017Co-Authors: Grethel Millington, Kelsey H. Elliott, Ching-fang Chang, Ya-ting Chang, Andrzej A Dlugosz, Samantha A BrugmannAbstract:Abstract Ciliopathies are a class of diseases caused by the loss of a ubiquitous, microtubule-based organelle called a primary cilium. Ciliopathies commonly result in defective development of the craniofacial complex, causing midfacial defects, craniosynostosis, micrognathia and aglossia. Herein, we explored how the conditional loss of primary cilia on neural crest cells ( Kif3a f/f ;Wnt1-Cre) generated aglossia. On a cellular level, our data revealed that aglossia in Kif3a f/f ;Wnt1-Cre embryos was due to a loss of mesoderm-derived muscle precursors migrating into and surviving in the tongue anlage. To determine the molecular basis for this phenotype, we performed RNA-seq, in situ hybridization, qPCR and Western blot analyses. We found that transduction of the Sonic hedgehog (Shh) pathway, rather than other pathways previously implicated in tongue development, was aberrant in Kif3a f/f ;Wnt1-Cre embryos. Despite increased production of full-length GLI2 and GLI3 isoforms, previously identified GLI targets important for mandibular and glossal development ( Foxf1 , Foxf2 , Foxd1 and Foxd2) were transcriptionally downregulated in Kif3a f/f ;Wnt1-Cre embryos. Genetic removal of GLI activator (GLIA) isoforms in neural crest cells recapitulated the aglossia phenotype and downregulated Fox gene expression. Genetic addition of GLIA isoforms in neural crest cells partially rescued the aglossia phenotype and Fox gene expression in Kif3a f/f ;Wnt1-Cre embryos. Together, our data suggested that glossal development requires primary cilia-dependent GLIA activity in neural crest cells. Furthermore, these data, in conjunction with our previous work, suggested Prominence specific roles for GLI isoforms; with development of the Frontonasal Prominence relying heavily on the repressor isoform and the development of the mandibular Prominence/tongue relying heavily on the activator isoform.
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Summary of measured values for cell proliferation and cell death in the Frontonasal Prominence and palatal shelves in e11.5 Ttc21b mutants.
2017Co-Authors: Elizabeth N. Schock, Ching-fang Chang, Jaime N. Struve, Trevor J. Williams, John Snedeker, Aria C. Attia, Rolf W. Stottmann, Samantha A BrugmannAbstract:Summary of measured values for cell proliferation and cell death in the Frontonasal Prominence and palatal shelves in e11.5 Ttc21b mutants.
Ilona J. Frieden - One of the best experts on this subject based on the ideXlab platform.
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Patterns of Infantile Hemangiomas: New Clues to Hemangioma Pathogenesis and Embryonic Facial Development
Pediatrics, 2006Co-Authors: Anita N. Haggstrom, Edward J. Lammer, Richard A. Schneider, Ralph S. Marcucio, Ilona J. FriedenAbstract:OBJECTIVES. Large facial infantile hemangiomas have higher rates of complications than small localized hemangiomas, more often require treatment, and can be associated with neurological, ophthalmologic, and cardiac anomalies (PHACE syndrome). The anatomic patterns of these hemangiomas are often referred to as "segmental" despite a lack of precise anatomic definitions. Our study aims to define "segmental" hemangiomas based on clinically observed patterns. Our secondary goal is to relate the observed patterns to currently accepted developmental patterns to gain insight into hemangioma pathogenesis and craniofacial development. METHODS. Photographic data were extracted from a large cohort of patients with infantile hemangiomas. We mapped 294 hemangiomas and recorded common morphologic patterns. Anatomic descriptions of the most common patterns were described and compared with accepted concepts of craniofacial development. RESULTS. Four primary segments were identified (Segl-Seg4). Seg2 and Seg3 correspond with the previously recognized maxillary and mandibular Prominences. Segl and Seg4 differ from standard human embryology texts. The frontotemporal segment, Segl, encompasses the lateral forehead, anterior temporal scalp, and lateral frontal scalp. The segment Seg4, encompassing the medial frontal scalp, nasal bridge, nasal tip, ala, and philtrum, is substantially narrower on the forehead than the previously described Frontonasal Prominence. CONCLUSIONS. The patterns provide new clues regarding facial development. The observed patterns resemble previously described facial developmental units on the lower face but are distinctly different on the upper face. The patterns suggest that neural crest derivatives may play a role in the development of facial hemangiomas. Finally, these patterns (Segl-Seg4) help standardize the nomenclature of facial segmental hemangiomas to analyze more effectively hemangioma risks and behavior.
P Hochain - One of the best experts on this subject based on the ideXlab platform.
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cleft lip palate and cdh1 e cadherin mutations in families with hereditary diffuse gastric cancer
Journal of Medical Genetics, 2005Co-Authors: Thierry Frebourg, Carla Oliveira, P Hochain, Rachid Karam, Sylvie Manouvrier, C Graziadio, Michel Vekemans, A Hartmann, Stephanie Baertdesurmont, Claudio Osmar Pereira AlexandreAbstract:We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the Frontonasal Prominence, and at 6 weeks in the lateral and medial nasal Prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.
