Search Results - "Morrow, Bernice E."

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome by Hasten, Erica, Morrow, Bernice E

“…We investigated whether Tbx1, the gene for 22q11.2 deletion syndrome (22q11.2DS) and Foxi3, both required for segmentation of the pharyngeal apparatus (PA) to…”
Get full text

Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development by De Bono, Christopher, Liu, Yang, Ferrena, Alexander, Valentine, Aneesa, Zheng, Deyou, Morrow, Bernice E.

“…Disruption of cardiac neural crest cells (CNCCs) results in congenital heart disease, yet we do not understand the cell fate dynamics as these cells…”
Get full text

Molecular genetics of 22q11.2 deletion syndrome by Morrow, Bernice E., McDonald‐McGinn, Donna M., Emanuel, Beverly S., Vermeesch, Joris R., Scambler, Peter J.

“…The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the…”
Get full text

Dual embryonic origin of the mammalian otic vesicle forming the inner ear by Freyer, Laina, Aggarwal, Vimla, Morrow, Bernice E

“…The inner ear and cochleovestibular ganglion (CVG) derive from a specialized region of head ectoderm termed the otic placode. During embryogenesis, the otic…”
Get full text

Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation by Racedo, Silvia E., McDonald-McGinn, Donna M., Chung, Jonathan H., Goldmuntz, Elizabeth, Zackai, Elaine, Emanuel, Beverly S., Zhou, Bin, Funke, Birgit, Morrow, Bernice E.

“…The human chromosome 22q11.2 region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS)…”
Get full text

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome by Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Clodagh, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, Marshall, Christian R

“…Objective:Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this…”
Get full text

Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm by Nomaru, Hiroko, Liu, Yang, De Bono, Christopher, Righelli, Dario, Cirino, Andrea, Wang, Wei, Song, Hansoo, Racedo, Silvia E., Dantas, Anelisa G., Zhang, Lu, Cai, Chen-Leng, Angelini, Claudia, Christiaen, Lionel, Kelly, Robert G., Baldini, Antonio, Zheng, Deyou, Morrow, Bernice E.

“…The poles of the heart and branchiomeric muscles of the face and neck are formed from the cardiopharyngeal mesoderm within the pharyngeal apparatus. They are…”
Get full text

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome by Guo, Tingwei, Chung, Jonathan H., Wang, Tao, McDonald-McGinn, Donna M., Kates, Wendy R., Hawuła, Wanda, Coleman, Karlene, Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.

“…We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had…”
Get full text

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis by Guo, Chaoshe, Sun, Ye, Zhou, Bin, Adam, Rosalyn M, Li, XiaoKun, Pu, William T, Morrow, Bernice E, Moon, Anne, Li, Xue

“…Shared molecular programs govern the formation of heart and head during mammalian embryogenesis. Development of both structures is disrupted in human…”
Get full text

Crk and Crkl Are Required in the Endocardial Lineage for Heart Valve Development by Wu, Bingruo, Wu, Brian, Benkaci, Sonia, Shi, Lijie, Lu, Pengfei, Park, Taeju, Morrow, Bernice E, Wang, Yidong, Zhou, Bin

“…Background Endocardial cells are a major progenitor population that gives rise to heart valves through endocardial cushion formation by endocardial to…”
Get full text

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome by Hasten, Erica, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine, Emanuel, Beverly S, Morrow, Bernice E, Racedo, Silvia E

“…Abstract Non-allelic homologous recombination events on chromosome 22q11.2 during meiosis can result in either the deletion (22q11.2DS) or duplication…”
Get full text

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects by Sewda, Anshuman, Agopian, A.J, Goldmuntz, Elizabeth, Hakonarson, Hakon, Morrow, Bernice E, Musfee, Fadi, Taylor, Deanne, Mitchell, Laura E, Winlaw, David Scott

“…Congenital heart defects (CHDs) affect approximately 1% of newborns. Epidemiological studies have identified several genetically-mediated maternal phenotypes…”
Get full text

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome by Racedo, Silvia E, Hasten, Erica, Lin, Mingyan, Devakanmalai, Gnanapackiam Sheela, Guo, Tingwei, Ozbudak, Ertugrul M, Cai, Chen-Leng, Zheng, Deyou, Morrow, Bernice E

“…The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1,…”
Get full text

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects by Sewda, Anshuman, Agopian, A J, Goldmuntz, Elizabeth, Hakonarson, Hakon, Morrow, Bernice E, Taylor, Deanne, Mitchell, Laura E

“…Conotruncal heart defects (CTDs) are among the most common and severe groups of congenital heart defects. Despite evidence of an inherited genetic contribution…”
Get full text

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat by Castellanos, Raquel, Xie, Qing, Zheng, Deyou, Cvekl, Ales, Morrow, Bernice E

“…Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge…”
Get full text

Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle by Freyer, Laina, Morrow, Bernice E.

“…To understand the mechanism by which canonical Wnt signaling sets boundaries for pattern formation in the otic vesicle (OV), we examined Tbx1 and Eya1‐Six1…”
Get full text

Identification of downstream genetic pathways of Tbx1 in the second heart field by Liao, Jun, Aggarwal, Vimla S., Nowotschin, Sonja, Bondarev, Alexei, Lipner, Shari, Morrow, Bernice E.

“…Tbx1, a T-box transcription factor, and an important gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) in humans, causes outflow tract (OFT)…”
Get full text

A Pedigree-Based Map of Recombination in the Domestic Dog Genome by Campbell, Christopher L, Bhérer, Claude, Morrow, Bernice E, Boyko, Adam R, Auton, Adam

“…Meiotic recombination in mammals has been shown to largely cluster into hotspots, which are targeted by the chromatin modifier PRDM9. The canid family,…”
Get full text

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies by Lin, Jhih-Rong, Zhang, Quanwei, Cai, Ying, Morrow, Bernice E, Zhang, Zhengdong D

“…Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here,…”
Get full text

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication by Kong, Ping, Racedo, Silvia E, Macchiarulo, Stephania, Hu, Zunju, Carpenter, Courtney, Guo, Tingwei, Wang, Tao, Zheng, Deyou, Morrow, Bernice E

“…Velo-cardio-facial/DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a congenital anomaly disorder characterized by craniofacial anomalies…”
Get full text