A5029381108- Congenital heart defects research
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- Coronary Artery Anomalies
- Chromosomal and Genetic Variations
- Hearing, Cochlea, Tinnitus, Genetics
- Tissue Engineering and Regenerative Medicine
- Developmental Biology and Gene Regulation
- Genetics and Neurodevelopmental Disorders
- Tracheal and airway disorders
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- Vitamin C and Antioxidants Research
- Fungal and yeast genetics research
- RNA Research and Splicing
- RNA modifications and cancer
- Antifungal resistance and susceptibility
- Cancer-related molecular mechanisms research
- Cardiac Arrhythmias and Treatments
- Vestibular and auditory disorders
- Retinoids in leukemia and cellular processes
- Diagnosis and Treatment of Venous Diseases
- Genomics and Phylogenetic Studies
- Cardiovascular Conditions and Treatments
- Congenital Ear and Nasal Anomalies
Albert Einstein College of Medicine
2015-2024
Janssen (United States)
2021
Yeshiva University
2001-2019
Triangle
2019
Indianapolis Zoo
2019
Kentucky Science Center
2019
John Wiley & Sons (United States)
2019
University Health Network
2017
University of Toronto
2017
Universidad del Desarrollo
2017
We report the results of two studies examining genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize interstitial deletions identified on chromosome 22q11 in a sample schizophrenic patients. The size was estimated to be 1.5 2 megabases. B, examine whether variations deletion are associated with phenotype syndrome Our show that region genome has been previously implicated by linkage analysis can harbor lesions increase susceptibility schizophrenia....
Germ line mutations in DNA mismatch repair genes including MLH1 cause hereditary nonpolyposis colon cancer. To understand the role of normal growth and development, we generated mice that have a null mutation this gene. Mice homozygous for show replication error phenotype, extracts these cells are deficient activity. Homozygous mutant males mating behavior but no detectable mature sperm. Examination meiosis reveals enter meiotic prophase arrest at pachytene. females estrous cycles...
The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three disorders, cat-eye syndrome, der() syndrome velo-cardio-facial syndrome/DiGeorge (VCFS/DGS) tetrasomy, trisomy or monosomy, respectively, for part of 22q11. VCFS/DGS the most common rearrangements. In order determine whether there particular regions on prone rearrangements, deletion end-points in a large number patients were defined by haplotype...
Pulver, Ann E. Sc.D.; Nestadt, Gerald M.D.; Goldberg, Rosalie M.S.; Shprintzen, Robert J. Ph.D.; Lamacz, Malgorzata Wolyniec, Paula S. M.A.; Morrow, Bernice Karayiorgou, Maria Antonarakis, Stylianos Housman, David Kucheriapati, Raju Ph.D. Author Information
The purpose of this study was to conduct a systematic assessment psychiatric illness in patients diagnosed with velo-cardio-facial syndrome, genetic syndrome that involves over 40 somatic anomalies, learning disabilities, and behavioral disorders is associated microdeletion on chromosome 22q11.Subjects were referred for diagnostic evaluation without regard age or previous history. In order establish DSM-III-R consensus clinical diagnoses who ranged from 5 34 years, the Diagnostic Interview...
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for part of 22q11, suggesting that haploinsufficiency in this region responsible its etiology. Because most cases are sporadic, portions 22q11 may be prone to rearrangement. To understand the molecular basis chromosomal deletions, we defined extent deletion, genotyping 151 performing haplotype...
Velo-cardio-facial-syndrome (VCFS) is a common congenital disorder associated with typical facial appearance, cleft palate, cardiac defects, and learning disabilities. The majority of patients have an interstitial deletion on chromosome 22q11. In addition to physical abnormalities, variety psychiatric illnesses been reported in VCFS, including schizophrenia, bipolar disorder, attention deficit hyperactivity disorder. manifestations VCFS could be due haploinsufficiency gene(s) within One...
Candida spp. carriage and strain relatedness were assessed in 52 healthy women at 17 anatomical locations by using an isolation procedure which assesses intensity a computer-assisted DNA fingerprinting system computes genetic similarity between strains on the basis of patterns Southern blots probed with moderately repetitive sequence Ca3. cultured from 73% test individuals, most frequently oral (56%), vulvovaginal (40%), anorectal (24%) regions. Half individuals carried organism...
The 22q11 deletion (22q11DS; velo-cardio-facial syndrome/DiGeorge syndrome) is characterized by defects in the derivatives of pharyngeal apparatus. Mouse genetic studies have identified Tbx1, a member T-box family transcription factors, as being responsible for physical malformations syndrome. Mice heterozygous null mutation Tbx1 mild anomalies, whereas homozygous mutants die at birth with severe apparatus, including cleft palate, thymus gland aplasia and cardiac outflow tract malformations....
Shared molecular programs govern the formation of heart and head during mammalian embryogenesis. Development both structures is disrupted in human chromosomal microdeletion 22q11.2 (del22q11), which causes DiGeorge syndrome (DGS) velo-cardio-facial (VCFS). Here, we have identified a genetic pathway involving Six1/Eya1 transcription complex that regulates cardiovascular craniofacial development. We demonstrate murine mutation Six1 Eya1 recapitulated most features del22q11 syndromes, including...
The DiGeorge syndrome, the most common of microdeletion syndromes, affects multiple organs, including heart, nervous system, and kidney. It is caused by deletions on chromosome 22q11.2; genetic driver kidney defects unknown.
The inner ear and cochleovestibular ganglion (CVG) derive from a specialized region of head ectoderm termed the otic placode. During embryogenesis, placode invaginates into to form vesicle (OV), primordium CVG. Non-autonomous cell signaling hindbrain OV is required for morphogenesis neurogenesis. In this study, we show that neuroepithelial cells (NECs), including neural crest (NCCs), can contribute directly tube. Using Wnt1-Cre, Pax3(Cre/+) Hoxb1(Cre/+) mice label fate map cranial NEC...
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute schizophrenia expression.
Disruption of cardiac neural crest cells (CNCCs) results in congenital heart disease, yet we do not understand the cell fate dynamics as these differentiate to vascular smooth muscle cells. Here performed single-cell RNA-sequencing NCCs from pharyngeal apparatus with control mouse embryos and when Tbx1, gene for 22q11.2 deletion syndrome, is inactivated. We uncover three dynamic transitions expressing Tbx2 Tbx3 through differentiated CNCCs transcription factors genes. These are altered...