4.6 Article

Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases

Taiki Abe et al.

CELL DEATH AND DIFFERENTIATION (2020)

Article Medicine, General & Internal

Selumetinib in Children with Inoperable Plexiform Neurofibromas

Andrea M. Gross et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Hematology

Expression of GNAZ, encoding the Gαz protein, predicts survival in mantle cell lymphoma

Filip Mundt et al.

BRITISH JOURNAL OF HAEMATOLOGY (2019)

Article Genetics & Heredity

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome

Alistair T. Pagnamenta et al.

CLINICAL GENETICS (2019)

Article Multidisciplinary Sciences

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

M. Steklov et al.

SCIENCE (2018)

Article Multidisciplinary Sciences

LZTR1 is a regulator of RAS ubiquitination and signaling

Johannes W. Bigenzahn et al.

SCIENCE (2018)

Article Oncology

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future

Karlyne M. Reilly et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2017)

Article Oncology

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future

Karlyne M. Reilly et al.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2017)

Article Medicine, General & Internal

Neurofibromatosis type 1

David H. Gutmann et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Pediatrics

Annual review of children with neurofibromatosis type 1

B. M. Dunning-Davies et al.

ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION (2016)

Article Genetics & Heredity

GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation

Young H. Lim et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Ugur M. Ayturk et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Clinical Neurology

Multifocal Nerve Lesions and LZTR1 Germline Mutations in Segmental Schwannomatosis

Said Farschtschi et al.

ANNALS OF NEUROLOGY (2016)

Article Multidisciplinary Sciences

Gas1 is a receptor for sonic hedgehog to repel enteric axons

Shiying Jin et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Review Clinical Neurology

Neurofibromatosis type 1: a multidisciplinary approach to care

Angela C. Hirbe et al.

LANCET NEUROLOGY (2014)

Article Medicine, General & Internal

Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Matthew D. Shirley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

Mutations in GNA11 in Uveal Melanoma.

Catherine D. Van Raamsdonk et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Multidisciplinary Sciences

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

Catherine D. Van Raamsdonk et al.

NATURE (2009)

Article Genetics & Heredity

Germline and somaticNF1gene mutations in plexiform neurofibromas

Meena Upadhyaya et al.

HUMAN MUTATION (2008)

Review Genetics & Heredity

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

Rosalie E. Ferner et al.

JOURNAL OF MEDICAL GENETICS (2007)