Cargando…

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex

The 593 kbp 16p11.2 copy number variation (CNV) affects the gene dosage of 29 protein coding genes, with heterozygous 16p11.2 microduplication or microdeletion implicated in about 1% of autism spectrum disorder (ASD) cases. The 16p11.2 CNV is frequently associated with macrocephaly or microcephaly i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Morson, Sarah, Yang, Yifei, Price, David J, Pratt, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8328201/ https://www.ncbi.nlm.nih.gov/pubmed/33825894 http://dx.doi.org/10.1093/cercor/bhab067

Ejemplares similares

Sensory processing in 16p11.2 deletion and 16p11.2 duplication
por: Smith, Harriet, et al.
Publicado: (2022)

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
por: Maillard, A M, et al.
Publicado: (2015)

Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2
por: Degenhardt, Franziska, et al.
Publicado: (2016)

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
por: Yang, Yifei, et al.
Publicado: (2023)

Microduplications of 16p11.2 are Associated with Schizophrenia
por: McCarthy, Shane, et al.
Publicado: (2009)

16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids
por: Fetit, Rana, et al.
Publicado: (2023)

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits
por: Vysotskiy, Mikhail, et al.
Publicado: (2023)

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
por: Horne, Hisani N., et al.
Publicado: (2016)

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
por: Wang, You, et al.
Publicado: (2022)

F41. SCHIZOPHRENIA-RELEVANT ALTERATIONS IN CEREBRAL METABOLISM, GLUTAMATE AND MONOAMINERGIC NEUROTRANSMITTER SYSTEM FUNCTION IN A MOUSE MODEL OF 16P11.2 DUPLICATION
por: Bristow, Greg, et al.
Publicado: (2018)

Microduplication of 16p11.2 locus Potentiates Hypertrophic Obesity in Association with Imbalanced Triglyceride Metabolism in White Adipose Tissue
por: Wang, Dilong, et al.
Publicado: (2022)

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain
por: Bayou, Nadia, et al.
Publicado: (2008)

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development
por: Qiu, Yuqi, et al.
Publicado: (2019)

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents
por: Morožin Pohovski, Leona, et al.
Publicado: (2023)

BDNF and JNK Signaling Modulate Cortical Interneuron and Perineuronal Net Development: Implications for Schizophrenia-Linked 16p11.2 Duplication Syndrome
por: Willis, Ashleigh, et al.
Publicado: (2020)

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
por: Termsarasab, Pichet, et al.
Publicado: (2014)

16p11.2 microdeletion syndrome: a case report
por: Dell’Edera, D., et al.
Publicado: (2018)

Psychiatric disorders in children with 16p11.2 deletion and duplication
por: Niarchou, Maria, et al.
Publicado: (2019)

Quantitative gait assessment in children with 16p11.2 syndrome
por: Goldman, Sylvie, et al.
Publicado: (2019)

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
por: Vysotskiy, Mikhail, et al.
Publicado: (2021)

Social behavior in 16p11.2 and 22q11.2 copy number variations: Insights from mice and humans
por: Benedetti, Arianna, et al.
Publicado: (2021)

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes
por: Kumar, Ravinesh A., et al.
Publicado: (2009)

Abnormal auditory and language pathways in children with 16p11.2 deletion
por: Berman, Jeffrey I., et al.
Publicado: (2015)

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions
por: Demopoulos, Carly, et al.
Publicado: (2018)

Longitudinal report of child with de novo 16p11.2 triplication
por: Wallace, Arianne S., et al.
Publicado: (2017)

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication
por: Niarchou, Maria, et al.
Publicado: (2019)

Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
por: Ventura, Mara, et al.
Publicado: (2019)

MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions
por: Park, Sang Mee, et al.
Publicado: (2017)

16p11.2 deletion mice exhibit compromised fronto-temporal connectivity, GABAergic dysfunction, and enhanced attentional ability
por: Openshaw, Rebecca L., et al.
Publicado: (2023)

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children
por: Fetit, Rana, et al.
Publicado: (2020)

Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?
por: Karunanithi, Zarmiga, et al.
Publicado: (2017)

Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series
por: Posar, Annio, et al.
Publicado: (2020)

Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
por: Ueda, Keisuke, et al.
Publicado: (2021)

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
por: Urresti, Jorge, et al.
Publicado: (2021)

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
por: Li, Suping, et al.
Publicado: (2020)

Drug-responsive autism phenotypes in the 16p11.2 deletion mouse model: a central role for gene-environment interactions
por: Mitchell, Emma J., et al.
Publicado: (2020)

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
por: Moufawad El Achkar, Christelle, et al.
Publicado: (2022)

Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
por: Urresti, Jorge, et al.
Publicado: (2021)

Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity
por: Perrone, Laura, et al.
Publicado: (2010)

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
por: Li, Wen, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ufuvu6nakrrq92rnacicr99s7j