Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

doi:10.1016/j.devcel.2018.02.012

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Developmental cell - 26 Mar 2018

Merk Daniel J, Ohli Jasmin, Merk Natalie D, Thatikonda Venu, Morrissy Sorana, Schoof Melanie, Schmid Susanne N, Harrison Luke, Filser Severin, Ahlfeld Julia, Erkek Serap, Raithatha Kaamini, Andreska Thomas, Weißhaar Marc, Launspach Michael, Neumann Julia E, Shakarami Mehdi, Plenker Dennis, Marra Marco A, Li Yisu, Mungall Andrew J, Moore Richard A, Ma Yussanne, Jones Steven J M, Lutz Beat, Ertl-Wagner Birgit, Rossi Andrea, Wagener Rabea, Siebert Reiner, Jung Andreas, Eberhart Charles G, Lach Boleslaw, Sendtner Michael, Pfister Stefan M, Taylor Michael D, Chavez Lukas, Kool Marcel, Schüller Ulrich

Abstract excerpt

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acetyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Neoplasms

Share to CREB-Binding Protein

Share to Hedgehog Proteins

Share to Medulloblastoma

Share to Mice, Knockout

Share to Neurons

Share to Rubinstein-Taybi Syndrome

Source

Open in PubMed

Identifiers

PMID: 29551561
DOI: 10.1016/j.devcel.2018.02.012

Genes

CREBBP
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.PMID 29551561Read ↗

Lack of Rb and p53 delays cerebellar development and predisposes to large cell anaplastic medulloblastoma through amplification of N-Myc and Ptch2.Semantic proximity Read ↗

Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.Semantic proximity Read ↗

Childhood Cerebellar Tumors Mirror Conserved Fetal Transcriptional ProgramsSemantic proximity Read ↗

Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.Semantic proximity Read ↗

Functional loss of a non-canonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formationSemantic proximity Read ↗

Serpine2/PN-1 Is Required for Proliferative Expansion of Pre-Neoplastic Lesions and Malignant Progression to Medulloblastoma.Semantic proximity Read ↗

Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.Semantic proximity Read ↗

Identification of a neuronal transcription factor network involved in medulloblastoma developmentSemantic proximity Read ↗

<i>PTCH1</i> mutant human cerebellar organoids are associated with altered neural development and early pathways of medulloblastoma oncogenesisSemantic proximity Read ↗

Epigenetic regulation in medulloblastoma pathogenesis revealed by genetically engineered mouse models.Semantic proximity Read ↗

Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic targetSemantic proximity Read ↗

Developmental and oncogenic effects of insulin-like growth factor-I in Ptc1+/- mouse cerebellum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.