Cargando…

Biallelic loss of GNAS in a patient with pediatric medulloblastoma

Genome sequencing was performed on matched normal and tumor tissue from a 6.5-yr-old boy with a diagnosis of recurrent medulloblastoma. A pathogenic heterozygous c.432+1G>A canonical splice donor site variant in GNAS was detected on analysis of blood DNA. Analysis of tumor DNA showed the same spl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tokita, Mari J., Nahas, Shareef, Briggs, Benjamin, Malicki, Denise M., Mesirov, Jill P., Reyes, Iris Anne C., Farnaes, Lauge, Levy, Michael L., Kingsmore, Stephen F., Dimmock, David, Crawford, John R., Wechsler-Reya, Robert J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2019
Materias:	Rapid Cancer Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824258/ https://www.ncbi.nlm.nih.gov/pubmed/31624069 http://dx.doi.org/10.1101/mcs.a004572

Ejemplares similares

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
por: Farnaes, Lauge, et al.
Publicado: (2017)

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
por: Sanford, Erica, et al.
Publicado: (2018)

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
por: Briggs, Benjamin, et al.
Publicado: (2018)

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
por: Sanford, Erica, et al.
Publicado: (2018)

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
por: Hildreth, Amber, et al.
Publicado: (2017)

MEDB-33. The landscape of ecDNA in medulloblastoma
por: Chapman, Owen, et al.
Publicado: (2022)

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
por: Sweeney, Nathaly M., et al.
Publicado: (2018)

MEDB-66. Investigating intra-tumoral heterogeneity of extrachromosomal DNA in SHH medulloblastoma
por: Chapman, Owen, et al.
Publicado: (2022)

OMIC-05. PHOSPHOPROTEOMIC ANALYSIS IDENTIFIES SUBGROUP ENRICHED PATHWAYS AND KINASE SIGNATURES IN MEDULLOBLASTOMA
por: Leskoske, Kristin, et al.
Publicado: (2021)

Subgroup-Enriched Pathways and Kinase Signatures in Medulloblastoma Patient-Derived Xenografts
por: Leskoske, Kristin L., et al.
Publicado: (2022)

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
por: Ramchandar, Nanda, et al.
Publicado: (2020)

OMIC-01. THE LANDSCAPE OF EXTRACHROMOSOMAL CIRCULAR DNA IN MEDULLOBLASTOMA SUBGROUPS
por: Chapman, Owen, et al.
Publicado: (2021)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
por: Rehman, Atteeq U., et al.
Publicado: (2018)

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
por: Kadakia, Sejal, et al.
Publicado: (2019)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

MEDB-47. CD4+ T cells restrict medulloblastoma growth and dissemination
por: Eisemann, Tanja, et al.
Publicado: (2022)

Coming in from the cold: overcoming the hostile immune microenvironment of medulloblastoma
por: Eisemann, Tanja, et al.
Publicado: (2022)

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
por: Clark, Michelle M., et al.
Publicado: (2018)

MEDB-57.GNAS inactivation as a driver for sonic hedgehog-activated medulloblastoma
por: Goode, Erin, et al.
Publicado: (2022)

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
por: Ganapathi, Mythily, et al.
Publicado: (2022)

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
por: Farnaes, Lauge, et al.
Publicado: (2018)

The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review
por: Lin, Yu-Lin, et al.
Publicado: (2020)

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature
por: Okur, Volkan, et al.
Publicado: (2018)

Characterization of G-CSF receptor expression in medulloblastoma
por: Paul, Megan Rose, et al.
Publicado: (2020)

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
por: Ramadesikan, Swetha, et al.
Publicado: (2022)

Current studies and future directions for medulloblastoma: A review from the pacific pediatric neuro-oncology consortium (PNOC) disease working group
por: Cooney, Tab, et al.
Publicado: (2022)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
por: Friedman, Jennifer, et al.
Publicado: (2019)

Development of a prognostic model based on an immunogenomic landscape analysis of medulloblastoma
por: Guo, Yuduo, et al.
Publicado: (2021)

LncRNA GNAS-AS1 facilitates ER(+) breast cancer cells progression by promoting M2 macrophage polarization via regulating miR-433-3p/GATA3 axis
por: Liu, Shi-Qin, et al.
Publicado: (2020)

Peptide vaccine targeting mutated GNAS: a potential novel treatment for pseudomyxoma peritonei
por: Flatmark, Kjersti, et al.
Publicado: (2021)

MBRS-12. A TRANSPOSON MUTAGENESIS SCREEN IDENTIFIES Rreb1 AS A DRIVER FOR GROUP 3 MEDULLOBLASTOMA
por: Masihi, Meher Beigi, et al.
Publicado: (2020)

Medulloblastoma with Excessive Nodularity: Radiographic Features and Pathologic Correlate
por: Yeh-Nayre, L. A., et al.
Publicado: (2012)

Depletion of kinesin motor KIF20A to target cell fate control suppresses medulloblastoma tumour growth
por: Qiu, Runxiang, et al.
Publicado: (2021)

Nilotinib, an approved leukemia drug, inhibits smoothened signaling in Hedgehog-dependent medulloblastoma
por: Chahal, Kirti Kandhwal, et al.
Publicado: (2019)

Survivin as a therapeutic target in Sonic hedgehog-driven medulloblastoma
por: Brun, Sonja N., et al.
Publicado: (2014)

Effects of altered ephrin-A5 and EphA4/EphA7 expression on tumor growth in a medulloblastoma mouse model
por: Bhatia, Shilpa, et al.
Publicado: (2015)

Glucocorticoid induction of tyrosine hydroxylase in a continous cell line of rat pheochromocytoma
por: Goodman, R., et al.
Publicado: (1978)

Real time detection of acute (IP) cocaine-enhanced dopamine and serotonin release in ventrolateral nucleus accumbens of the behaving Norway rat
por: Broderick, Patricia A., et al.
Publicado: (1993)

Thrombospondin-1 mimetics are promising novel therapeutics for MYC-associated medulloblastoma
por: Chan, Tiffany S Y, et al.
Publicado: (2021)

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing
por: Liserre, Roberto, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_77oqpijbqtd8b15p563fl7jrtd