Cargando…

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

ERBB4 encodes the tyrosine kinase receptor HER4, a critical regulator of normal cell function and neurodevelopmental processes in the brain. One of the key ligands of HER4 is neureglin-1 (NRG1), and the HER4-NRG1 signalling pathway is essential in neural crest cell migration, and neuronal differenti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440581/ https://www.ncbi.nlm.nih.gov/pubmed/33603162 http://dx.doi.org/10.1038/s41431-021-00815-y

Ejemplares similares

Exonic DNA Sequencing of ERBB4 in Bipolar Disorder
por: Goes, Fernando S., et al.
Publicado: (2011)

Human Brain Models of Intellectual Disability: Experimental Advances and Novelties
por: Merckx, Nona Laura Lisa, et al.
Publicado: (2022)

The evolving therapeutic landscape of genetic skeletal disorders
por: Sabir, Ataf Hussain, et al.
Publicado: (2019)

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
por: Neerinckx, Barbara, et al.
Publicado: (2015)

ERBB2 exon 20 insertions are rare in Brazilian non‐small cell lung cancer
por: de Oliveira Cavagna, Rodrigo, et al.
Publicado: (2022)

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
por: Zablotskaya, Alena, et al.
Publicado: (2018)

Investigation of the prevalence and clinical implications of ERBB2 exon 16 skipping mutations in Chinese pan-cancer patients
por: Shang, Yanhong, et al.
Publicado: (2023)

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability
por: Daoqi, Mei, et al.
Publicado: (2020)

Sensitivity of epidermal growth factor receptor and ErbB2 exon 20 insertion mutants to Hsp90 inhibition
por: Xu, W, et al.
Publicado: (2007)

Clinical characterization of ERBB2 exon 20 insertions and heterogeneity of outcomes responding to afatinib in Chinese lung cancer patients
por: Liu, Zhefeng, et al.
Publicado: (2018)

Clinical significance of ERBB2 exon 16 skipping: analysis of a real-world retrospective observational cohort study
por: Shi, Lei, et al.
Publicado: (2020)

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
por: Reggiani, Claudio, et al.
Publicado: (2017)

Poor Efficacy of Immune Checkpoint Inhibitors Plus Chemotherapy in Lung Cancer Patients with EGFR/ERBB2 Exon 20 Insertion
por: Zheng, Yue, et al.
Publicado: (2023)

Meta-Analyses of QTLs Associated with Protein and Oil Contents and Compositions in Soybean [Glycine max (L.) Merr.] Seed
por: Van, Kyujung, et al.
Publicado: (2017)

EGFR and ERBB2 exon 20 insertion/duplication in advanced non–small cell lung cancer: genomic profiling and clinicopathologic features
por: Sompallae, Ramakrishna R., et al.
Publicado: (2023)

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
por: Nikkel, Sarah M, et al.
Publicado: (2013)

Quantitative Phosphoproteomics Analysis of ERBB3/ERBB4 Signaling
por: Wandinger, Sebastian K., et al.
Publicado: (2016)

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
por: Sitaram, Spatikha, et al.
Publicado: (2022)

An Exonic Switch Regulates Differential Accession of microRNAs to the Cd34 Transcript in Atherosclerosis Progression
por: Hueso, Miguel, et al.
Publicado: (2019)

Co-Occurring Alterations of ERBB2 Exon 20 Insertion in Non-Small Cell Lung Cancer (NSCLC) and the Potential Indicator of Response to Afatinib
por: Yuan, Bo, et al.
Publicado: (2020)

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation
por: Pieridou, Chariklia, et al.
Publicado: (2023)

Exon skipping for DMD
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2012)

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
por: Bogliş, Alina, et al.
Publicado: (2020)

Timing of Alzheimer’s Disease by Intellectual Disability Level in Down Syndrome
por: Hartley, Sigan L., et al.
Publicado: (2023)

Constructing postmodernism /
por: McHale, Brian
Publicado: (1992)

R. Buckminster Fuller
por: McHale, John
Publicado: (1962)

Navigating Social Media Legal Risks: Safeguarding Your Business
por: McHale, Robert
Publicado: (2012)

An Information Test of Interests
por: McHale, Kathryn
Publicado: (1930)

Positron Emission Tomography (PET) Quantification of GABA(A) Receptors in the Brain of Fragile X Patients
por: D’Hulst, Charlotte, et al.
Publicado: (2015)

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
por: Banka, Siddharth, et al.
Publicado: (2013)

Cool Decision-Making in Adolescents with Behavior Disorder and/or Mild-to-Borderline Intellectual Disability
por: Bexkens, Anika, et al.
Publicado: (2015)

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
por: Seifert, Wenke, et al.
Publicado: (2014)

The Usage of Exon-Exon Splice Junctions for the Detection of Alternative Splicing using the REIDS model
por: Van Moerbeke, Marijke, et al.
Publicado: (2018)

Modulation of ErbB2 Blockade in ErbB2-Positive Cancers: The Role of ErbB2 Mutations and PHLDA1
por: Li, Guangyuan, et al.
Publicado: (2014)

ErbBs in Lens Cell Fibrosis and Secondary Cataract
por: VanSlyke, Judy K., et al.
Publicado: (2023)

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
por: Philips, Anju K, et al.
Publicado: (2014)

Exploring views on medical care for people with intellectual disabilities: an international concept mapping study
por: Breuer, Marian E. J., et al.
Publicado: (2022)

Molecular spectroscopy
por: McHale, Jeanne L
Publicado: (2017)

Molecular spectroscopy
por: McHale, Jeanne L.
Publicado: (1999)

Mr. McHale on Cannabis Indica for Dysentery
por: McHale, W. J.
Publicado: (1887)

Cannot write session to /tmp/vufind_sessions/sess_ha3udcisf530kiea8klebjbm3p