4.5 Review

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes

Related references

Note: Only part of the references are listed.
Article Pharmacology & Pharmacy

Targeting the spliceosome machinery: A new therapeutic axis in cancer?

Beatrice Eymin

Summary: Pre-mRNA splicing plays a critical role in regulating gene expression in eukaryotic cells, with over 90% of protein-encoding transcripts being alternatively spliced, increasing protein diversity. Abnormal splice variants identified in cancers have led to a new anti-cancer strategy targeting the spliceosome machinery, though the potential and efficacy of these therapies are still under debate.

BIOCHEMICAL PHARMACOLOGY (2021)

Article Genetics & Heredity

Sporadic vestibular schwannoma: a molecular testing summary

Katherine Sadler et al.

Summary: Some cases of sporadic vestibular schwannoma may actually be undetected cases of NF2 or schwannomatosis, highlighting the importance of early identification for more accurate familial risk prediction and prognosis. This study also found a higher rate of pathogenic germline variants in LZTR1 and SMARCB1 among tested patients, supporting the multi-hit mechanism of VS tumorigenesis.

JOURNAL OF MEDICAL GENETICS (2021)

Letter Genetics & Heredity

A deep intronic SMARCB1 variant associated with schwannomatosis

Miriam J. Smith et al.

CLINICAL GENETICS (2020)

Article Clinical Neurology

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

Yanan Yu et al.

ACTA NEUROPATHOLOGICA (2020)

Article Genetics & Heredity

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

Eungu Kang et al.

JOURNAL OF HUMAN GENETICS (2020)

Article Medicine, Research & Experimental

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Barbara Rivera et al.

JOURNAL OF CLINICAL INVESTIGATION (2020)

Article Multidisciplinary Sciences

Noncoding mutations target cis-regulatory elements of the FOXA1 plexus in prostate cancer

Stanley Zhou et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheath tumors

Azadeh Amirnasr et al.

SCIENTIFIC REPORTS (2020)

Review Cell Biology

Transcription and splicing: A two-way street

Michael Tellier et al.

WILEY INTERDISCIPLINARY REVIEWS-RNA (2020)

Article Multidisciplinary Sciences

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Nicola Whiffin et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Dragana Vuckovic et al.

Article Multidisciplinary Sciences

Expanded encyclopaedias of DNA elements in the human and mouse genomes

Jill E. Moore et al.

NATURE (2020)

Article Multidisciplinary Sciences

The GTEx Consortium atlas of genetic regulatory effects across human tissues

Francois Aguet et al.

SCIENCE (2020)

Article Genetics & Heredity

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jennifer J. Johnston et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Genetics & Heredity

Intronic CNVs and gene expression variation in human populations

Maria Rigau et al.

PLOS GENETICS (2019)

Article Multidisciplinary Sciences

Inhibition of MYC by the SMARCB1 tumor suppressor

April M. Weissmiller et al.

NATURE COMMUNICATIONS (2019)

Article Genetics & Heredity

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Antonia Assunto et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

Article Medicine, Research & Experimental

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene

D. Gareth Evans et al.

LARYNGOSCOPE (2019)

Article Oncology

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

Irene Paganini et al.

JOURNAL OF NEURO-ONCOLOGY (2018)

Article Biochemistry & Molecular Biology

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

Sarah A. Cumming et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Review Genetics & Heredity

Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes

Parisa Sharafi et al.

JOURNAL OF NEUROGENETICS (2018)

Article Clinical Neurology

Schwannomatosis: a genetic and epidemiological study

D. Gareth Evans et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)

Review Cell Biology

Enhancer Logic and Mechanics in Development and Disease

Ryan Rickels et al.

TRENDS IN CELL BIOLOGY (2018)

Review Multidisciplinary Sciences

Developmental enhancers and chromosome topology

Eileen E. M. Furlong et al.

SCIENCE (2018)

Article Genetics & Heredity

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation

Xiaofeng Wang et al.

NATURE GENETICS (2017)

Article Genetics & Heredity

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin et al.

GENETICS IN MEDICINE (2017)

Review Genetics & Heredity

Emerging genotype-phenotype relationships in patients with large NF1 deletions

Hildegard Kehrer-Sawatzki et al.

HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

Neurofibromatosis type 1 alternative splicing is a key regulator of Ras/ERK signaling and learning behaviors in mice

Hieu T. Nguyen et al.

HUMAN MOLECULAR GENETICS (2017)

Article Genetics & Heredity

Genetic Severity Score predicts clinical phenotype in NF2

Dorothy Halliday et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Multidisciplinary Sciences

Recurrent and functional regulatory mutations in breast cancer

Esther Rheinbay et al.

NATURE (2017)

Article Multidisciplinary Sciences

Whole-genome landscapes of major melanoma subtypes

Nicholas K. Hayward et al.

NATURE (2017)

Article Multidisciplinary Sciences

Epigenomic annotation of noncoding mutations identifies mutated pathways in primary liver cancer

Rebecca F. Lowdon et al.

PLOS ONE (2017)

Article Multidisciplinary Sciences

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer et al.

NATURE COMMUNICATIONS (2017)

Article Cell Biology

Loss of Snf5 Induces Formation of an Aberrant SWI/SNF Complex

Payel Sen et al.

CELL REPORTS (2017)

Review Biochemistry & Molecular Biology

Role of Merlin/NF2 inactivation in tumor biology

A. M. Petrilli et al.

ONCOGENE (2016)

Article Multidisciplinary Sciences

High-resolution interrogation of functional elements in the noncoding genome

Neville E. Sanjana et al.

SCIENCE (2016)

Review Multidisciplinary Sciences

Translational control by 5′-untranslated regions of eukaryotic mRNAs

Alan G. Hinnebusch et al.

SCIENCE (2016)

Review Genetics & Heredity

The role of regulatory variation in complex traits and disease

Frank W. Albert et al.

NATURE REVIEWS GENETICS (2015)

Article Biochemistry & Molecular Biology

Splicing of many human genes involves sites embedded within introns

Steven Kelly et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Biochemistry & Molecular Biology

Multiple conformations are a conserved and regulatory feature of the RB1 5′ UTR

Katrina M. Kutchko et al.

Article Multidisciplinary Sciences

A splicing variant of Merlin promotes metastasis in hepatocellular carcinoma

Zai-Li Luo et al.

NATURE COMMUNICATIONS (2015)

Article Biochemistry & Molecular Biology

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Irene Paganini et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemistry & Molecular Biology

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Miriam J. Smith et al.

NEUROLOGY (2015)

Article Medicine, Research & Experimental

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing

Weihong Xu et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)

Article Biochemistry & Molecular Biology

Neurofibromatosis Type 1 Alternative Splicing Is a Key Regulator of Ras Signaling in Neurons

Melissa N. Hinman et al.

MOLECULAR AND CELLULAR BIOLOGY (2014)

Article Genetics & Heredity

Genome-wide analysis of noncoding regulatory mutations in cancer

Nils Weinhold et al.

NATURE GENETICS (2014)

Review Biochemistry & Molecular Biology

Hallmarks of alternative splicing in cancer

S. Oltean et al.

ONCOGENE (2014)

Article Genetics & Heredity

Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients

Martina Nemethova et al.

ANNALS OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Elisabeth Castellanos et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Multidisciplinary Sciences

A compendium of RNA-binding motifs for decoding gene regulation

Debashish Ray et al.

NATURE (2013)

Article Multidisciplinary Sciences

Frequency of TERT promoter mutations in human cancers

Joao Vinagre et al.

NATURE COMMUNICATIONS (2013)

Article Genetics & Heredity

Vestibular Schwannomas Occur in Schwannomatosis and Should not be Considered an Exclusion Criterion for Clinical Diagnosis

Miriam J. Smith et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Review Biochemistry & Molecular Biology

Alternative splicing of the neurofibromatosis type I pre-mRNA

Victoria A. Barron et al.

BIOSCIENCE REPORTS (2012)

Article Biochemistry & Molecular Biology

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis

Miriam J. Smith et al.

HUMAN MOLECULAR GENETICS (2012)

Article Cell Biology

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity

Minja Laulajainen et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Genetics & Heredity

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Miriam J. Smith et al.

NEUROGENETICS (2012)

Review Genetics & Heredity

An emerging role for microRNAs in NF1 tumorigenesis

Ashni Sedani et al.

HUMAN GENOMICS (2012)

Article Biochemistry & Molecular Biology

Transcription regulation by distal enhancers Who's in the loop?

Ralph Stadhouders et al.

TRANSCRIPTION-AUSTIN (2012)

Article Oncology

Are snoRNAs and snoRNA host genes new players in cancer?

Gwyn T. Williams et al.

NATURE REVIEWS CANCER (2012)

Article Pathology

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Maria Carmen Valero et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2011)

Article Biochemistry & Molecular Biology

FERM Domain Phosphoinositide Binding Targets Merlin to the Membrane and Is Essential for Its Growth-Suppressive Function

Timmy Mani et al.

MOLECULAR AND CELLULAR BIOLOGY (2011)

Article Genetics & Heredity

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

Katharina Wimmer et al.

PLOS GENETICS (2011)

Article Genetics & Heredity

Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates From a UK Family Genetic Register Service

D. G. Evans et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Biochemistry & Molecular Biology

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

Cheng Ran Lisa Huang et al.

Article Biochemistry & Molecular Biology

Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons

Rebecca C. Iskow et al.

Article Biochemistry & Molecular Biology

Low U1 snRNP dependence at the NF1 exon 29 donor splice site

Michela Raponi et al.

FEBS JOURNAL (2009)

Article Biochemistry & Molecular Biology

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Audrey Sabbagh et al.

HUMAN MOLECULAR GENETICS (2009)

Review Medicine, General & Internal

Neurofibromatosis type 2

Ashok R. Asthagiri et al.

LANCET (2009)

Review Genetics & Heredity

Neurofibromatosis type 2 (NF2): A clinical and molecular review

D. Gareth R. Evans

ORPHANET JOURNAL OF RARE DISEASES (2009)

Article Multidisciplinary Sciences

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Sarah E. Calvo et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Genetics & Heredity

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

C. Boyd et al.

CLINICAL GENETICS (2008)

Article Genetics & Heredity

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

K. D. Hadfield et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

Theo J. M. Hulsebos et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Biochemistry & Molecular Biology

NF1 mRNA biogenesis:: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region

Marco Baralle et al.

FEBS LETTERS (2006)

Article Genetics & Heredity

Analysis of NF1 transcriptional regulatory elements

TKB Lee et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Clinical Neurology

Diagnostic criteria for schwannomatosis

M MacCollin et al.

NEUROLOGY (2005)

Article Genetics & Heredity

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

DGR Evans et al.

JOURNAL OF MEDICAL GENETICS (2005)

Article Genetics & Heredity

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: A population-based study

ME Baser et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

Article Genetics & Heredity

Novel and Recurrent Mutations in the NF1 Gene in Italian Patients with Neurofibromatosis Type 1

Alessandro De Luca et al.

HUMAN MUTATION (2004)

Article Biochemistry & Molecular Biology

Strong conservation of the human NF2 locus based on sequence comparison in five species

CM Hansson et al.

MAMMALIAN GENOME (2003)

Article Genetics & Heredity

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

A Mohyuddin et al.

JOURNAL OF MEDICAL GENETICS (2002)

Article Clinical Neurology

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study

VF Mautner et al.

JOURNAL OF NEUROSURGERY (2002)

Article Biochemistry & Molecular Biology

Schwannomin isoform-1 interacts with syntenin via PDZ domains

M Jannatipour et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Otorhinolaryngology

Analysis of the human neurofibromatosis type 2 gene promoter and its expression

DB Welling et al.

OTOLARYNGOLOGY-HEAD AND NECK SURGERY (2000)