Cara Nasello
A5037634531- Obsessive-Compulsive Spectrum Disorders
- Autism Spectrum Disorder Research
- Chromosomal and Genetic Variations
- Plant Reproductive Biology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hereditary Neurological Disorders
- Plant Virus Research Studies
- Behavioral and Psychological Studies
- Sirtuins and Resveratrol in Medicine
- Acute Myeloid Leukemia Research
- Animal Behavior and Reproduction
- Prenatal Substance Exposure Effects
- CNS Lymphoma Diagnosis and Treatment
- Wnt/β-catenin signaling in development and cancer
- Williams Syndrome Research
- Insect symbiosis and bacterial influences
- Hypothalamic control of reproductive hormones
- RNA Interference and Gene Delivery
- Retinoids in leukemia and cellular processes
- Trypanosoma species research and implications
- Biochemical and Structural Characterization
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Birth, Development, and Health
- CRISPR and Genetic Engineering
Rutgers, The State University of New Jersey
2011-2024
Highlights•Recurrent de novo variants identify a new high-confidence TD risk gene: CELSR3•Genes involved in cell polarity are more likely to be disrupted by variants•De sequence may carry simplex families, female probands•De CNVs occur 2 3 times often probands than matched controlsSummaryWe previously established the contribution of damaging Tourette disorder (TD) through whole-exome sequencing 511 trios. Here, we an additional 291 trios and analyze combined set 802 We observe...
Tourette disorder (TD) is poorly understood, despite affecting 1/160 children. A lack of animal models possessing construct, face, and predictive validity hinders progress in the field. We used CRISPR/Cas9 genome editing to generate mice with mutations orthologous human de novo variants two high-confidence genes, CELSR3 WWC1 . Mice Celsr3 Wwc1 exhibit cognitive and/or sensorimotor behavioral phenotypes consistent TD. Sensorimotor gating deficits, as measured by acoustic prepulse inhibition,...
Abstract Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity (ADHD) display strong male sex bias, due to a combination of genetic biological factors, as well selective ascertainment. While the hemizygous nature chromosome X (Chr X) in males has long been postulated key point “male vulnerability”, rare variation on this not systematically characterized large-scale whole exome sequencing studies “idiopathic” ASD, TS, ADHD. Here, we take advantage...
The PML protein and nuclear bodies (PML-NB) are implicated in multiple cellular functions relevant to tumor suppression, including DNA damage response. In most cases of acute promyelocytic leukemia, the retinoic acid receptor alpha (RARA) genes translocated, resulting expression oncogenic PML-RARα fusion proteins. PML-NB fail form normally, promyelocytes remain an undifferentiated, abnormally proliferative state. We examined involvement homologous recombinational repair (HRR) chromosomal...
Resveratrol has elicited many provocative anticancer effects in laboratory animals and cultured cells, including reduced levels of oxidative DNA damage, inhibition tumor initiation progression induction apoptosis cells. Use resveratrol as a cancer-preventive agent humans will require that its not be accompanied by damage to normal tissue stem or progenitor In mouse embryonic cells (mESC) early embryos exposed ethanol, been shown suppress promote survival. However, genotoxic stress, survival...
Recent evidence indicated that alcohol exposure during the fetal period increases susceptibility to tumor development in mammary and prostate tissues. Whether prolactin-producing (prolactinoma) pituitary was studied by employing animal model of estradiol-induced prolactinomas Fischer 344 female rats. We employed an simulates binge drinking first two trimesters human pregnancy involves feeding pregnant rats with a liquid diet containing 6.7% gestational day 7 21. Control were pair-fed...
Tourette Disorder (TD) is a childhood-onset neuropsychiatric and neurodevelopmental disorder characterized by the presence of both motor vocal tics. The genetic architecture TD believed to be complex heterogeneous. Nevertheless, DNA sequence variants co-segregating with phenotypes within multiplex families have been identified. This report examines whole exomes affected unaffected individuals in family discover genes involved etiology. We performed exome sequencing on six out nine members...
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole exome sequencing 511 trios. Here, we an additional 291 TD trios and analyze combined set 802 observe overrepresentation in simplex but not multiplex families; identify two new high confidence risk genes, CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3) OPA1 (Mitochondrial Dynamin-Like GTPase); find that genes mutated patients are enriched for those related cell...
Abstract Tourette disorder (TD) is poorly understood, despite affecting 1/160 children. A lack of animal models possessing construct, face, and predictive validity hinders progress in the field. We used CRISPR/Cas9 genome editing to generate mice with mutations orthologous human de novo variants two high-confidence genes, CELSR3 WWC1 . Mice Celsr3 Wwc1 exhibit cognitive and/or sensorimotor behavioral phenotypes consistent TD. Sensorimotor gating deficits, as measured by acoustic prepulse...
Abstract CELSR3 encodes an atypical protocadherin cell adhesion receptor that was recently identified as a high-risk gene for Tourette disorder. A putative damaging de novo variant inserted into the mouse genome to generate amino acid substitution within fifth cadherin repeat. By contrast Celsr3 constitutive null animals, mice homozygous R774H are viable and have grossly normal forebrain development. The density of cortical striatal interneuron subpopulations is normal, but 3D geometric...