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Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling

Human molecular genetics, 2013-06, Vol.22 (12), p.2335-2349

2013

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3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

Nature communications, 2023-04, Vol.14 (1), p.2300-2300, Article 2300

2023

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EPEN-03. USP7 is an interaction partner of EZHIP and potential druggable target in PFA ependymomas

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Supplement_1), p.i38-i38

2022

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EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma

Neuro-oncology (Charlottesville, Va.), 2019-07, Vol.21 (7), p.878-889

2019

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The molecular landscape of ETMR at diagnosis and relapse

Nature (London), 2019-12, Vol.576 (7786), p.274-280

2019

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ETMR-13. NFI GENES IN ETMR TUMORIGENESIS AND NEURODEVELOPMENT

Neuro-oncology (Charlottesville, Va.), 2020-12, Vol.22 (Supplement_3), p.iii325-iii325

2020

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FOXR2 Stabilizes MYCN Protein and Identifies Non– MYCN -Amplified Neuroblastoma Patients With Unfavorable Outcome

Journal of clinical oncology, 2021-10, Vol.39 (29), p.3217-3228

2021

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Complex formation and kinetics of filament assembly exhibited by the simple epithelial keratins K8 and K18

Journal of structural biology, 2012, Vol.177 (1), p.54-62

2012

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ETMR-03. THE ROLE OF FOXR2 IN PEDIATRIC BRAIN CANCER

Neuro-oncology (Charlottesville, Va.), 2020-12, Vol.22 (Supplement_3), p.iii323-iii323

2020

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Abstract 3885: USP7 is an interaction partner of EZHIP and potential druggable target in PFA ependymomas

Cancer research (Chicago, Ill.), 2022-06, Vol.82 (12_Supplement), p.3885-3885

2022

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RARE-15. Astroblastoma, MN1 altered comprises two molecularly and clinically distinct subgroups defined by the fusion partners BEND2 and CXXC5

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Supplement_1), p.i12-i13

2022

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ETMR-06. Molecular and clinical characteristics of CNS tumors with BCOR(L1 ) fusion/internal tandem duplication

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Supplement_1), p.i50-i50

2022

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ETMR-06. Molecular and clinical characteristics of CNS tumors withBCOR(L1) fusion/internal tandem duplication

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Suppl 1), p.i50-i50

2022

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Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy

Journal of cell science, 2016-07, Vol.129 (14), p.2732-2743

2016

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Assembly of Simple Epithelial Keratin Filaments: Deciphering the Ion Dependence in Filament Organization

Biomacromolecules, 2015-10, Vol.16 (10), p.3313-3321

2015

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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Human molecular genetics, 2015-08, Vol.24 (16), p.4483-4490

2015

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Analysis of distinct molecular assembly complexes of keratin K8 and K18 by hydrogen–deuterium exchange

Journal of structural biology, 2015-12, Vol.192 (3), p.426-440

2015

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MEDU-11. MOLECULAR CHARACTERIZATION OF ETMRs REVEALS A ROLE FOR R-LOOP MEDIATED CHROMOSOMAL INSTABILITY

Neuro-oncology (Charlottesville, Va.), 2019-04, Vol.21 (Supplement_2), p.ii105-ii105

2019

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Abstract 2491: Molecular and clinical characterization of the new WHO entity ‘Astroblastoma, MN1 altered’ and its molecular subgroups

Cancer research (Chicago, Ill.), 2022-06, Vol.82 (12_Supplement), p.2491-2491

2022

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LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Human mutation, 2015-07, Vol.36 (7), p.694-703

2015

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Deleterious assembly of mutant p.S143P lamin A/C causes ER stress in familial dilated cardiomyopathy

Journal of cell science, 2016-01

2016

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EPND-13. YAP1-MAMLD1 FUSIONS ALONE ARE SUFFICIENT TO FORM SUPRATENTORIAL EPENDYMOMA-LIKE TUMORS IN MICE

Neuro-oncology (Charlottesville, Va.), 2017-06, Vol.19 (suppl_4), p.iv17-iv18

2017

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EPN-30YAP1-MAMLD1 FUSIONS ALONE ARE SUFFICIENT TO FORM SUPRATENTORIAL EPENDYMOMA-LIKE TUMORS IN MICE

Neuro-oncology (Charlottesville, Va.), 2016-06, Vol.18 (suppl 3), p.iii37.1-iii37

2016

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Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling

YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

EPEN-03. USP7 is an interaction partner of EZHIP and potential druggable target in PFA ependymomas

EZHIP/CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma

The molecular landscape of ETMR at diagnosis and relapse

ETMR-13. NFI GENES IN ETMR TUMORIGENESIS AND NEURODEVELOPMENT

FOXR2 Stabilizes MYCN Protein and Identifies Non– MYCN -Amplified Neuroblastoma Patients With Unfavorable Outcome

Complex formation and kinetics of filament assembly exhibited by the simple epithelial keratins K8 and K18

ETMR-03. THE ROLE OF FOXR2 IN PEDIATRIC BRAIN CANCER

Abstract 3885: USP7 is an interaction partner of EZHIP and potential druggable target in PFA ependymomas

RARE-15. Astroblastoma, MN1 altered comprises two molecularly and clinically distinct subgroups defined by the fusion partners BEND2 and CXXC5

ETMR-06. Molecular and clinical characteristics of CNS tumors with BCOR(L1 ) fusion/internal tandem duplication

ETMR-06. Molecular and clinical characteristics of CNS tumors withBCOR(L1) fusion/internal tandem duplication

Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy

Assembly of Simple Epithelial Keratin Filaments: Deciphering the Ion Dependence in Filament Organization

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Analysis of distinct molecular assembly complexes of keratin K8 and K18 by hydrogen–deuterium exchange

MEDU-11. MOLECULAR CHARACTERIZATION OF ETMRs REVEALS A ROLE FOR R-LOOP MEDIATED CHROMOSOMAL INSTABILITY

Abstract 2491: Molecular and clinical characterization of the new WHO entity ‘Astroblastoma, MN1 altered’ and its molecular subgroups

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Deleterious assembly of mutant p.S143P lamin A/C causes ER stress in familial dilated cardiomyopathy

EPND-13. YAP1-MAMLD1 FUSIONS ALONE ARE SUFFICIENT TO FORM SUPRATENTORIAL EPENDYMOMA-LIKE TUMORS IN MICE

EPN-30YAP1-MAMLD1 FUSIONS ALONE ARE SUFFICIENT TO FORM SUPRATENTORIAL EPENDYMOMA-LIKE TUMORS IN MICE

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