Cargando…

Molecular and Phenotypic Abnormalities in Individuals with Germline Heterozygous PTEN Mutations and Autism

PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and ASD (PTEN-ASD), with the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Frazier, Thomas W., Embacher, Rebecca, Tilot, Amanda K., Koenig, Katherine, Mester, Jessica, Eng, Charis
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388743/ https://www.ncbi.nlm.nih.gov/pubmed/25288137 http://dx.doi.org/10.1038/mp.2014.125

Ejemplares similares

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
por: Busch, Robyn M., et al.
Publicado: (2019)

Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic Autism Spectrum Disorder
por: Tilot, Amanda K, et al.
Publicado: (2015)

Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations
por: Yehia, Lamis, et al.
Publicado: (2022)

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism
por: Frazier, Thomas W., et al.
Publicado: (2021)

Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes
por: Thacker, Stetson, et al.
Publicado: (2021)

Gastrointestinal polyposis and PTEN mutations: an under-acknowledged diagnostic criterion
por: Heald, Brandie, et al.
Publicado: (2010)

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
por: Yehia, Lamis, et al.
Publicado: (2020)

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome
por: Wei, Ruipeng, et al.
Publicado: (2023)

Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome
por: Yehia, Lamis, et al.
Publicado: (2017)

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
por: Chen, Hannah Jinlian, et al.
Publicado: (2017)

Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma
por: Ni, Ying, et al.
Publicado: (2017)

Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation
por: Yu, Wanfeng, et al.
Publicado: (2015)

Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype
por: Sarn, Nicholas, et al.
Publicado: (2020)

Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants
por: Yehia, Lamis, et al.
Publicado: (2023)

Psychiatric Characteristics Across Individuals With PTEN Mutations
por: Steele, Morgan, et al.
Publicado: (2021)

Germline nuclear-predominant Pten murine model exhibits impaired social and perseverative behavior, microglial activation, and increased oxytocinergic activity
por: Sarn, Nick, et al.
Publicado: (2021)

Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte–Duclos disease
por: Colby, Samantha, et al.
Publicado: (2016)

Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior
por: Thacker, Stetson, et al.
Publicado: (2020)

Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder
por: Lee, Hyunpil, et al.
Publicado: (2019)

Maternal genetics influences fetal neurodevelopment and postnatal autism spectrum disorder-like phenotype by modulating in-utero immunosuppression
por: Jaini, Ritika, et al.
Publicado: (2021)

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53
por: Ni, Ying, et al.
Publicado: (2012)

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function
por: Lobo, Glenn P., et al.
Publicado: (2009)

KLLN epigenotype–phenotype associations in Cowden syndrome
por: Nizialek, Emily A, et al.
Publicado: (2015)

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53
por: He, Xin, et al.
Publicado: (2011)

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome
por: Yehia, Lamis, et al.
Publicado: (2019)

Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells
por: Yu, Wanfeng, et al.
Publicado: (2017)

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations
por: Yehia, Lamis, et al.
Publicado: (2018)

WWP1 germline variants are associated with normocephalic autism spectrum disorder
por: Novelli, Giuseppe, et al.
Publicado: (2020)

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations
por: Hardan, Antonio Y., et al.
Publicado: (2021)

The microbiome in PTEN hamartoma tumor syndrome
por: Byrd, Victoria, et al.
Publicado: (2017)

Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits
por: He, Xin, et al.
Publicado: (2015)

Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits
por: He, Xin, et al.
Publicado: (2016)

Germline PTEN mutations are rare and highly penetrant
por: Rustad, Cecilie F, et al.
Publicado: (2006)

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
por: Marchese, Maria, et al.
Publicado: (2014)

Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet
por: Ngeow, Joanne, et al.
Publicado: (2016)

PTEN interacts with RNA polymerase II to dephosphorylate polymerase II C-terminal domain
por: Abbas, Ata, et al.
Publicado: (2019)

The mechanism of full activation of tumor suppressor PTEN at the phosphoinositide-enriched membrane
por: Jang, Hyunbum, et al.
Publicado: (2021)

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma
por: Bononi, Angela, et al.
Publicado: (2020)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
por: Preisler, Livia, et al.
Publicado: (2021)

Oligogenic heterozygous inheritance of sperm abnormalities in mouse
por: Martinez, Guillaume, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tdd9sgbbl6b4mluje50lphuiin