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Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.
- Published in:
- Nature Communications, 2023, p. 1, doi. 10.1038/s41467-023-37015-9
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- Publication type:
- Article
Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 8, p. 1, doi. 10.1371/journal.pgen.1008301
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- Publication type:
- Article
A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis.
- Published in:
- Journal of Clinical Investigation, 2011, v. 121, n. 4, p. 1585, doi. 10.1172/JCI44630
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- Article
Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26966-6
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- Article
Molecular genetics of 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504
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- Article
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 527, doi. 10.1002/ajmg.a.35784
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- Article
Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice.
- Published in:
- BMC Developmental Biology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-213X-13-33
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- Article
Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pgen.1007142
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- Article
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
- Published in:
- Scientific Reports, 2016, p. 19372, doi. 10.1038/srep19372
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- Publication type:
- Article
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141259
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- Publication type:
- Article
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0133082
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- Publication type:
- Article
Mammalian TBX1 Preferentially Binds and Regulates Downstream Targets Via a Tandem T-site Repeat.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0095151
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- Publication type:
- Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Article
A Pedigree-Based Map of Recombination in the Domestic Dog Genome.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 11, p. 3517, doi. 10.1534/g3.116.034678
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- Publication type:
- Article
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
- Published in:
- PLoS ONE, 2020, v. 15, n. 6, p. 1, doi. 10.1371/journal.pone.0234357
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- Article
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 13, p. 888, doi. 10.1002/bdr2.1534
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- Article
Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development.
- Published in:
- Developmental Dynamics, 2012, v. 241, n. 3, p. 563, doi. 10.1002/dvdy.23731
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- Article
Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle.
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- Developmental Dynamics, 2010, v. 239, n. 6, p. 1708, doi. 10.1002/dvdy.22308
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- Article
Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation.
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- 2008
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- Publication type:
- journal article
Genetic analysis of nonalcoholic fatty liver disease within a Caribbean--Hispanic population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 558, doi. 10.1002/mgg3.168
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- Article
Crk and Crkl Are Required in the Endocardial Lineage for Heart Valve Development.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029683
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- Article
Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis.
- Published in:
- 2019
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- Publication type:
- journal article
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69134-4
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- Publication type:
- Article
Crk and Crkl have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 8, p. 1197, doi. 10.1093/hmg/ddab313
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- Publication type:
- Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
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- Publication type:
- Article
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1847, doi. 10.1093/hmg/ddy078
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- Publication type:
- Article
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3754, doi. 10.1093/hmg/ddw221
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- Publication type:
- Article
Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4215, doi. 10.1093/hmg/ddu140
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- Publication type:
- Article
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 797, doi. 10.1002/humu.22814
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- Publication type:
- Article
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2560, doi. 10.1093/hmg/ddm197
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- Publication type:
- Article
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 21, p. 3219, doi. 10.1093/hmg/ddl399
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- Publication type:
- Article
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 10, p. 1629, doi. 10.1093/hmg/ddl084
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- Publication type:
- Article
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 15, p. 1577, doi. 10.1093/hmg/ddh176
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- Publication type:
- Article
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 15, p. 1823, doi. 10.1093/hmg/ddg203
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- Publication type:
- Article
Mice overexpressing genes fromthe 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndromehave middle and inner ear defects.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2549, doi. 10.1093/hmg/10.22.2549
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- Publication type:
- Article
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800
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- Publication type:
- Article
Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1030, doi. 10.3390/genes12071030
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- Article
Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 655, doi. 10.3390/genes12050655
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- Publication type:
- Article
An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies.
- Published in:
- Epigenetics & Chromatin, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13072-023-00486-7
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- Publication type:
- Article
Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects.
- Published in:
- PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0219926
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- Article
A common molecular basis for rearrangement disorders on chromosome 22q11.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1157, doi. 10.1093/hmg/8.7.1157
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- Publication type:
- Article
The Prevalence of Ultrarapid Metabolizers of Codeine in a Diverse Urban Population.
- Published in:
- 2019
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- Publication type:
- journal article
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.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006687
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- Publication type:
- Article