The SWI/SNF Complex in Neural Crest Cell Development and Disease

ATRT-18. Atypical Teratoid/Rhabdoid Tumor in Children: Case Reports from Indonesia

(2022) Diko Anugrah Ramadhan et al.   NEURO-ONCOLOGY

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors

(2022) Monika Graf et al.   Nature Communications

EWSR1-ATF1 dependent 3D connectivity regulates oncogenic and differentiation programs in Clear Cell Sarcoma

(2022) Emely Möller et al.   Nature Communications

Schwann cell precursors represent a neural crest‐like state with biased multipotency

(2022) Maria Eleni Kastriti et al.   EMBO JOURNAL

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

(2022) Scott R. Plotkin et al.   GENETICS IN MEDICINE

Beyond SMARCB1 Loss: Recent Insights into the Pathobiology of Epithelioid Sarcoma

(2022) Elisa Del Savio et al.   Cells

Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours

(2021) Lars Custers et al.   Nature Communications

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

(2021) D. Gareth Evans et al.   GENETICS IN MEDICINE

SWI/SNF chromatin remodeling complex alterations in meningioma

(2021) Corey M. Gill et al.   JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY

Critical role of the BAF chromatin remodeling complex during murine neural crest development

(2021) Kathleen Wung Bi-Lin et al.   PLoS Genetics

Characteristics and Outcomes in Pediatric Non-Central Nervous System Malignant Rhabdoid Tumors: A Report from the National Cancer Database

(2021) Katrina M. Morgan et al.   ANNALS OF SURGICAL ONCOLOGY

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

(2021) Luca Pagliaroli et al.   Nature Communications

Polycomb Repressive Complex 2: a Dimmer Switch of Gene Regulation in Calvarial Bone Development

(2020) Timothy Nehila et al.   Current Osteoporosis Reports

A Structural Model of the Endogenous Human BAF Complex Informs Disease Mechanisms

(2020) Nazar Mashtalir et al.   CELL

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

(2020) Yu Teranishi et al.   JOURNAL OF MEDICAL GENETICS

COMPASS and SWI/SNF complexes in development and disease

(2020) Bercin K. Cenik et al.   NATURE REVIEWS GENETICS

RING1B recruits EWSR1-FLI1 and cooperates in the remodeling of chromatin necessary for Ewing sarcoma tumorigenesis

(2020) Sara Sánchez-Molina et al.   Science Advances

Meningiomas from a developmental perspective: exploring the crossroads between meningeal embryology and tumorigenesis

(2020) Julien Boetto et al.   ACTA NEUROCHIRURGICA

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

(2020) Dörthe Holdhof et al.   ACTA NEUROPATHOLOGICA

The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges

(2020) Daniel M. Fountain et al.   ONCOGENE

Schwann Cell Precursors; Multipotent Glial Cells in Embryonic Nerves

(2019) Kristjan R. Jessen et al.   Frontiers in Molecular Neuroscience

Developmental biology of the meninges

(2019) Krishnakali Dasgupta et al.   GENESIS

Dangerous liaisons: interplay between SWI/SNF, NuRD, and Polycomb in chromatin regulation and cancer

(2019) Adrian P. Bracken et al.   GENES & DEVELOPMENT

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

(2019) D. Gareth Evans et al.   GENETICS IN MEDICINE

Spatiotemporal structure of cell fate decisions in murine neural crest

(2019) Ruslan Soldatov et al.   SCIENCE

Segmental schwannomatosis: characteristics in 12 patients

(2019) Abdulqader Alaidarous et al.   Orphanet Journal of Rare Diseases

Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration

(2019) Hye-Jung E. Chun et al.   Cell Reports

Early chromatin shaping predetermines multipotent vagal neural crest into neural, neuronal and mesenchymal lineages

(2019) Irving T. C. Ling et al.   NATURE CELL BIOLOGY

Molecular subgrouping of atypical teratoid/rhabdoid tumors—a reinvestigation and current consensus

(2019) Ben Ho et al.   NEURO-ONCOLOGY

The SS18-SSX Fusion Oncoprotein Hijacks BAF Complex Targeting and Function to Drive Synovial Sarcoma

(2018) Matthew J. McBride et al.   CANCER CELL

Schwann cell precursor: a neural crest cell in disguise?

(2018) Alessandro Furlan et al.   DEVELOPMENTAL BIOLOGY

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

(2018) Till Holsten et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Selective vulnerability of the primitive meningeal layer to prenatal Smo activation for skull base meningothelial meningioma formation

(2018) Julien Boetto et al.   ONCOGENE

Ewing sarcoma

(2018) Thomas G. P. Grünewald et al.   Nature Reviews Disease Primers

An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures

(2018) Grace Collord et al.   Scientific Reports

A non-canonical SWI/SNF complex is a synthetic lethal target in cancers driven by BAF complex perturbation

(2018) Brittany C. Michel et al.   NATURE CELL BIOLOGY

Genetic Severity Score predicts clinical phenotype in NF2

(2017) Dorothy Halliday et al.   JOURNAL OF MEDICAL GENETICS

Multipotent peripheral glial cells generate neuroendocrine cells of the adrenal medulla

(2017) Alessandro Furlan et al.   SCIENCE

Schwann cell precursors as a source for adrenal gland chromaffin cells

(2017) Luiza Lousado et al.   Cell Death & Disease

Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development

(2017) Jeremie Vitte et al.   Nature Communications

Early Craniofacial Defects in Zebrafish that Have Reduced Function of a Wnt-Interacting Extracellular Matrix Protein, Tinagl1

(2017) Hannah Neiswender et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome

(2016) Pascal D. Johann et al.   BRAIN PATHOLOGY

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors

(2016) Jonathon Torchia et al.   CANCER CELL

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

(2016) Pascal D. Johann et al.   CANCER CELL

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

(2016) Hye-Jung E. Chun et al.   CANCER CELL

Dynamics of BAF–Polycomb complex opposition on heterochromatin in normal and oncogenic states

(2016) Cigall Kadoch et al.   NATURE GENETICS

The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation

(2016) Zhi-Yan Han et al.   Nature Communications

Generation of a Mouse Model of Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System through Combined Deletion of Snf5 and p53

(2015) Jessica M.Y. Ng et al.   CANCER RESEARCH

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

(2015) Rachel D. Burnside   CYTOGENETIC AND GENOME RESEARCH

Establishing neural crest identity: a gene regulatory recipe

(2015) M. Simoes-Costa et al.   DEVELOPMENT

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

(2015) Adam Hexter et al.   JOURNAL OF MEDICAL GENETICS

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

(2015) Jonathon Torchia et al.   LANCET ONCOLOGY

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

(2014) Sonja Hutter et al.   ACTA NEUROPATHOLOGICA

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

(2014) Martin Hasselblatt et al.   ACTA NEUROPATHOLOGICA

Ezh2 is required for neural crest-derived cartilage and bone formation

(2014) D. Schwarz et al.   DEVELOPMENT

ConsistentSMARCB1homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material

(2014) Francois Le Loarer et al.   GENES CHROMOSOMES & CANCER

Glial origin of mesenchymal stem cells in a tooth model system

(2014) Nina Kaukua et al.   NATURE

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Parasympathetic ganglia derive from Schwann cell precursors

(2014) I. Espinosa-Medina et al.   SCIENCE

Parasympathetic neurons originate from nerve-associated peripheral glial progenitors

(2014) V. Dyachuk et al.   SCIENCE

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

(2014) Miriam J. Smith et al.   Cancer Genetics

Reversible Disruption of mSWI/SNF (BAF) Complexes by the SS18-SSX Oncogenic Fusion in Synovial Sarcoma

(2013) Cigall Kadoch et al.   CELL

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

(2013) Arkadiusz Piotrowski et al.   NATURE GENETICS

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell development

(2013) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Development and evolution of the neural crest: An overview

(2012) Marianne E. Bronner et al.   DEVELOPMENTAL BIOLOGY

Chromatin-Remodeling Factor Brg1 Is Required for Schwann Cell Differentiation and Myelination

(2012) Matthias Weider et al.   DEVELOPMENTAL CELL

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

(2012) Miriam J. Smith et al.   NEUROGENETICS

Cribriform neuroepithelial tumour: novel clinicopathological, ultrastructural and cytogenetic findings

(2011) George M. Ibrahim et al.   ACTA NEUROPATHOLOGICA

Epithelioid Malignant Peripheral Nerve Sheath Tumor Arising in a Schwannoma, in a Patient With “Neuroblastoma-like” Schwannomatosis and a Novel Germline SMARCB1 Mutation

(2011) Jodi M. Carter et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

(2011) Guillaume Rousseau et al.   BMC Neurology

Survival outcomes in atypical teratoid rhabdoid tumor for patients undergoing radiotherapy in a Surveillance, Epidemiology, and End Results analysis

(2011) Daniela L. Buscariollo et al.   CANCER

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

(2011) M. J. Smith et al.   JOURNAL OF MEDICAL GENETICS

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

(2011) Pepijn van den Munckhof et al.   NEUROGENETICS

Identification of a progenitor cell of origin capable of generating diverse meningioma histological subtypes

(2011) M Kalamarides et al.   ONCOGENE

Assembling Neural Crest Regulatory Circuits into a Gene Regulatory Network

(2010) Paola Betancur et al.   Annual Review of Cell and Developmental Biology

Epigenetic Antagonism between Polycomb and SWI/SNF Complexes during Oncogenic Transformation

(2010) Boris G. Wilson et al.   CANCER CELL

Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

(2010) I. Christiaans et al.   JOURNAL OF MEDICAL GENETICS

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

(2010) Katherine W. Eaton et al.   PEDIATRIC BLOOD & CANCER

PDGF function in diverse neural crest cell populations

(2010) Christopher L. Smith et al.   Cell Adhesion & Migration

Schwann Cell Precursors from Nerve Innervation Are a Cellular Origin of Melanocytes in Skin

(2009) Igor Adameyko et al.   CELL

Cribriform Neuroepithelial Tumor (CRINET): A Nonrhabdoid Ventricular Tumor With INI1 Loss and Relatively Favorable Prognosis

(2009) Martin Hasselblatt et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Neurofibromatosis type 2

(2009) Ashok R Asthagiri et al.   LANCET

A gene regulatory network orchestrates neural crest formation

(2008) Tatjana Sauka-Spengler et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY