Výsledky vyhledávání - "Alexander Diacou"

Crk and Crkl have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation

Autor: Bin Zhou, Alexander Diacou, Bernice E. Morrow, Silvia E. Racedo, Lijie Shi, Taeju Park

Publikováno v: Hum Mol Genet

CRK and CRKL encode cytoplasmic adaptors that contribute to the etiology of congenital heart disease. Neural crest cells (NCCs) are required for cardiac outflow tract (OFT) septation and aortic arch formation. The roles of Crk/Crkl in NCCs during mou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3872ecdcc77ea29e695ebc4cf52e14
https://pubmed.ncbi.nlm.nih.gov/34686881

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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Autor: Richard Duncan, Tao Wang, Carrie E. Bearden, David J. Cutler, Stephen T. Warren, Maria Pontillo, Robert Sean Gallagher, Elemi J. Breetvelt, Tingwei Guo, Nancy J. Butcher, Jennifer G. Mulle, Claudia Ornstein, Claudia Vingerhoets, Clodagh M. Murphy, Ehud Mekori-Domachevsky, Wendy R. Kates, Jacob A. S. Vorstman, Tracy Heung, Joris Vermeesch, Maria Gudbrandsen, Ann Swillen, H. Richard Johnston, Oanh Tran, Marco Armando, Joseph F. Cubells, Raoul Belzeaux, Jeroen Breckpot, Bruno Marino, Tony J. Simon, Harold I. Salmons, Maria Jalbrzikowski, Wanda Fremont, Anna J. Voss, Worrawat Engchuan, Opal Y. Ousley, Stefano Vicari, Jordi Rosell, Sixto García-Miñaur, Declan G. Murphy, Alexander Diacou, Ania Fiksinski, Abraham Weizman, Edward Moss, Stephan Eliez, Miri Carmel, Vandana Shashi, Anne S. Bassett, Ronnie Weinberger, Hayley Moss, Marianne Bernadette van den Bree, Kelly Schoch, Maude Schneider, Linda E. Campbell, Sasja N. Duijff, Eileen Daly, Annick Vogels, Stephen R. Hooper, David Fraguas, Sarah E. Prasad, Chelsea Lowther, Michael John Owen, Frédérique Béna, Gabriela M. Repetto, Eva W.C. Chow, Bernice E. Morrow, Robert J. Sharkus, Celso Arango, Christian R. Marshall, Jasna Raventos-Simic, Jaume Morey-Canyelles, Tiffany Busa, Andrea Jin, James T.R. Walters, Leila Kushan, Wolfram Demaerel, Monica E. Calkins, Jhih Rong Lin, Elaine H. Zackai, Esther D.A. van Duin, Antonio Buzzanca, Corrado Sandini, Kieran C. Murphy, Beverly S. Emanuel, Erik Boot, Maria Niarchou, Nigel Williams, Elfi Vergaelen, Maria Cristina Digilio, Daniele Merico, Karlene Coleman, Gregory A. Costain, Matthew S. Hestand, Peter Holmans, Michael E. Zwick, Michael P. Epstein, Damià H. Suñer, Yingjie Zhao, Marta Unolt, Kathryn McCabe, Aaron M. Holleman, Zhengdong Zhang, Rosemarie Fritsch, Alex V. Kotlar, Elena Michaelovsky, T. Blaine Crowley, Brenna Lilley, Sunny X. Tang, Rens Evers, Ruben C. Gur, Isabelle Cleynen, Flora Tassone, Nicole Philip, Kevin M. Antshel, Koen Devriendt, Antonio F. Pardiñas, Pankaj Chopra, Thomas Monfeuga, Fabio Di Fabio, Therese van Amelsvoort, Aaron Golden, Doron Gothelf, Donna M. McDonald-McGinn, Raquel E. Gur, Daniel E. McGinn

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry (2020)
Molecular psychiatry
Molecular Psychiatry, 26(8), 4496-4510. Nature Publishing Group

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c91788310dcf6c66ef3ac3973170b9
http://hdl.handle.net/20.500.12278/33344

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Autor: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip

Publikováno v: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bb

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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

Publikováno v: American Journal of Medical Genetics. A, Vol. 176, No 10 (2018) pp. 2172-2181
American Journal of Medical Genetics Part A, 176(10), 2172-2181. Wiley
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of medical genetics. Part A, vol 176, iss 10

The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08da23afa70859c4fc6d6aa3b110d39
https://doi.org/10.1002/ajmg.a.40359

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Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

Publikováno v: Human molecular genetics, vol 27, iss 7
Human Molecular Genetics (2018)

Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efaab2f24a124973746e46fc8f0b544c
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddy028

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Pharmacological reduction of mucosal but not neuronal serotonin opposes inflammation in mouse intestine

Autor: Korey Stevanovic, Kanchan G. Jhaver, Brian Zambrowicz, Tamas Oravecz, Michael D. Gershon, Alexander Diacou, Zhishan Li, Qi M. Yang, Kara Gross Margolis

Objective Enterochromaffin cell-derived serotonin (5-HT) promotes intestinal inflammation. We tested hypotheses that peripheral tryptophan hydroxylase (TPH) inhibitors, administered orally, block 5-HT biosynthesis and deplete 5-HT from enterochromaff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1596e22b31aa8eeb520cef3fb5f2234f
https://europepmc.org/articles/PMC4034681/

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Tu2011 Enteric Zoster: Human Occurrence and Development of a Guinea Pig Model

Autor: Michael D. Gershon, Anne A. Gershon, Alexander Diacou, Jason Chen

Publikováno v: Gastroenterology. 144:S-904

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41e5b706783ff1cdd8a7cd5159a0eb82
https://doi.org/10.1016/s0016-5085(13)63367-3

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634 Serotonin Plays a Proinflammatory Role in Murine Necrotizing Enterocolitis

Autor: Korey Stevanovic, Jennifer Vittorio, Qi M. Yang, Alexander Diacou, Michael D. Gershon, Soyoun Rosa Kim, Mark S. Bednarz, Kara Gross Margolis, Zhishan Li, Maria Talavera

Publikováno v: Gastroenterology. 142:S-125

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca23fcbcc62d0d50aa5250e0d793fa09
https://doi.org/10.1016/s0016-5085(12)60474-0

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Neuronal 5-HT is Anti-Inflammatory and Critical for GI Motility

Autor: Alexander Diacou, Ross Mazo, Michael D. Gershon, Zhishan Li, Korey Stevanovic, Kara Gross Margolis

Publikováno v: Gastroenterology. 140:S-370

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc29c1650d88f9c4b1e687627eec87c3
https://doi.org/10.1016/s0016-5085(11)61514-x

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