Cargando…

Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay

Ankyrins are a family of proteins that link integral membrane proteins to the underlying spectrin-actin cytoskeleton and play a key role in activities such as cell motility, activation, proliferation, cell–cell contact, and the maintenance of specialized membrane domains. Ankyrin 3 (ANK3) is one of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fang, Xiaolan, Fee, Timothy, Davis, Jessica, Stolerman, Elliot S., Caylor, Raymond C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2023
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393183/ https://www.ncbi.nlm.nih.gov/pubmed/37263801 http://dx.doi.org/10.1101/mcs.a006233

Ejemplares similares

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
por: Kloth, Katja, et al.
Publicado: (2021)

The Contribution of Mosaic Variants to Autism Spectrum Disorder
por: Freed, Donald, et al.
Publicado: (2016)

Epigenetic Delay in the Neurodevelopmental Trajectory of DNA Methylation States in Autism Spectrum Disorders
por: Corley, Michael J., et al.
Publicado: (2019)

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
por: Stosser, Mary Beth, et al.
Publicado: (2018)

Somatic Mosaicism and Autism Spectrum Disorder
por: D’Gama, Alissa M.
Publicado: (2021)

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome
por: Carbonell, Abigail U., et al.
Publicado: (2019)

Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders
por: Inui, Toshio, et al.
Publicado: (2017)

Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder
por: Berko, Esther R., et al.
Publicado: (2014)

The ank gene story
por: Ryan, Lawrence M
Publicado: (2001)

A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm
por: Liu, Junyu, et al.
Publicado: (2021)

The neurodevelopmental spectrum seen with CHD2 variants
por: Willison, Alice G, et al.
Publicado: (2022)

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
por: Mirzaa, Ghayda, et al.
Publicado: (2019)

Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder
por: Frye, Richard E., et al.
Publicado: (2022)

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
por: Marbach, Felix, et al.
Publicado: (2021)

Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome
por: Joseph, Lisa, et al.
Publicado: (2018)

Conceptualising compensation in neurodevelopmental disorders: Reflections from autism spectrum disorder
por: Livingston, Lucy Anne, et al.
Publicado: (2017)

Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
por: Rojas-Charry, Liliana, et al.
Publicado: (2020)

Editorial: Targeting Excitation-Inhibition Imbalance in Neurodevelopmental and Autism Spectrum Disorders
por: Pietropaolo, Susanna, et al.
Publicado: (2022)

Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3
por: Leettola, Catherine N, et al.
Publicado: (2014)

Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants
por: Xu, Wei, et al.
Publicado: (2023)

Aberrant axial mineralization precedes spinal ankylosis: a molecular imaging study in ank/ank mice
por: Las Heras, Facundo, et al.
Publicado: (2011)

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants
por: Al Masseri, Zainab, et al.
Publicado: (2022)

Translating benefits of exercise on depression for youth with autism spectrum disorder and neurodevelopmental disorders
por: Spratt*, Eve, et al.
Publicado: (2017)

Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy
por: Wang, Ling, et al.
Publicado: (2023)

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity
por: Yang, Rui, et al.
Publicado: (2019)

Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder
por: Lim, Elaine T., et al.
Publicado: (2017)

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
por: Fountain, Michael D., et al.
Publicado: (2019)

Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders
por: Potter, Huntington, et al.
Publicado: (2019)

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
por: Garrity, Madison, et al.
Publicado: (2021)

San-ev-ank, 1918 ; Revista nueva, 1919.
Publicado: (1979)

ANK, a Host Cytoplasmic Receptor for the Tobacco mosaic virus Cell-to-Cell Movement Protein, Facilitates Intercellular Transport through Plasmodesmata
por: Ueki, Shoko, et al.
Publicado: (2010)

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice
por: Delestré, Laure, et al.
Publicado: (2015)

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk
por: Kumar, Santosh, et al.
Publicado: (2019)

Autism Spectrum Disorder in a Community-based Sample with Neurodevelopmental Problems in Lagos, Nigeria
por: Oshodi, Yewande O., et al.
Publicado: (2017)

Biological Timing and Neurodevelopmental Disorders: A Role for Circadian Dysfunction in Autism Spectrum Disorders
por: Lorsung, Ethan, et al.
Publicado: (2021)

Emotional Dysregulation and Adaptive Functioning in Preschoolers With Autism Spectrum Disorder or Other Neurodevelopmental Disorders
por: Davico, Chiara, et al.
Publicado: (2022)

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis
por: Rihar, Nika, et al.
Publicado: (2023)

Expected conditions of the ANKE forward detector operation
por: Kacharava, A K, et al.
Publicado: (1997)

The Potential of ANK1 to Predict Parkinson’s Disease
por: Xue, Jinsong, et al.
Publicado: (2023)

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
por: Trinh, Joanne, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_2d02s12scru1qubm9gtnqks51v