Cargando…

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV

Detalles Bibliográficos
Autores principales:	Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366115/ https://www.ncbi.nlm.nih.gov/pubmed/22596160 http://dx.doi.org/10.1038/nature11091

Ejemplares similares

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

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
por: Kretz, Perrine F., et al.
Publicado: (2023)

A neuroanatomical predictor of mirror self-recognition in chimpanzees
por: Hecht, E. E., et al.
Publicado: (2017)

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
por: Nuttle, Xander, et al.
Publicado: (2016)

CNV-WebStore: Online CNV Analysis, Storage and Interpretation
por: Vandeweyer, Geert, et al.
Publicado: (2011)

Neuroanatomical Phenotypes in a Mouse Model of the 22q11.2 Microdeletion
por: Ellegood, J., et al.
Publicado: (2013)

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

KCTD5 Forms Hetero-Oligomeric Complexes with Various Members of the KCTD Protein Family
por: Liao, Yini, et al.
Publicado: (2023)

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia
por: Ulfarsson, M O, et al.
Publicado: (2017)

Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
por: Chu, Fu-Chieh, et al.
Publicado: (2021)

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models
por: Martin Lorenzo, Sandra, et al.
Publicado: (2021)

KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders
por: Teng, Xinchen, et al.
Publicado: (2019)

Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
por: Gudbrandsen, Maria, et al.
Publicado: (2020)

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
por: Helm, Benjamin M., et al.
Publicado: (2017)

The emerging role of the KCTD proteins in cancer
por: Angrisani, Annapaola, et al.
Publicado: (2021)

Neuroanatomical shifts mirror patterns of ecological divergence in three diverse clades of mimetic butterflies
por: Wainwright, J. Benito, 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)

Generation and characterization of Kctd15 mutations in zebrafish
por: Heffer, Alison, et al.
Publicado: (2017)

A Comprehensive Analysis of the Expression Profiles of KCTD Proteins in Acute Lymphoblastic Leukemia: Evidence of Selective Expression of KCTD1 in T-ALL
por: Buono, Lorena, et al.
Publicado: (2023)

Gender differences in CNV burden do not confound schizophrenia CNV associations
por: Han, Jun, et al.
Publicado: (2016)

The BTB-Containing Protein Kctd15 Is SUMOylated In Vivo
por: Zarelli, Valeria E., et al.
Publicado: (2013)

The KCTD family of proteins: structure, function, disease relevance
por: Liu, Zhepeng, et al.
Publicado: (2013)

Contribution of KCTD12 to esophageal squamous cell carcinoma
por: Abbaszadegan, Mohammad Reza, et al.
Publicado: (2018)

KCTD12 modulation of GABA(B) receptor function
por: Li, Melody, et al.
Publicado: (2017)

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
por: Sundberg, Maria, et al.
Publicado: (2021)

Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses
por: Connacher, Robert, et al.
Publicado: (2022)

Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses
por: Connacher, Robert, et al.
Publicado: (2022)

SavvyCNV: Genome-wide CNV calling from off-target reads
por: Laver, Thomas W., et al.
Publicado: (2022)

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
por: Samarakoon, Pubudu Saneth, et al.
Publicado: (2016)

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
por: Macnee, Marie, et al.
Publicado: (2023)

KCTD12 is negatively regulated by Kit in gastrointestinal stromal tumors
por: Suehara, Yoshiyuki, et al.
Publicado: (2018)

Members of the KCTD family are major regulators of cAMP signaling
por: Muntean, Brian S., et al.
Publicado: (2021)

Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay
por: Henshall, John M, et al.
Publicado: (2010)

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis
por: Lee, Nam Y., et al.
Publicado: (2012)

CNV analysis in the Lithuanian population
por: Urnikyte, A., et al.
Publicado: (2016)

Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men
por: Ma, Xiulan, et al.
Publicado: (2017)

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway
por: Reinardy, Jessica L., et al.
Publicado: (2015)

Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders
por: Martin Lorenzo, Sandra, et al.
Publicado: (2023)

Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins
por: Smaldone, Giovanni, et al.
Publicado: (2015)

KCTD11 Tumor Suppressor Gene Expression Is Reduced in Prostate Adenocarcinoma
por: Zazzeroni, Francesca, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ge2q4klpvl30j473plhaatadkf