Publications by authors named "Meena Upadhyaya"

78Publications

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Hum Genet 2018 Jul 10;137(6-7):511-520. Epub 2018 Jul 10.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1904-1DOI Listing
July 2018

Cutaneous neurofibromas: Current clinical and pathologic issues.

Neurology 2018 07;91(2 Suppl 1):S5-S13

From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005792DOI Listing
July 2018

Emerging therapeutic targets for neurofibromatosis type 1.

Expert Opin Ther Targets 2018 05 7;22(5):419-437. Epub 2018 May 7.

b Division of Cancer and Genetics , Cardiff University , Cardiff , UK.

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http://dx.doi.org/10.1080/14728222.2018.1465931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017752PMC
May 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

The NF1 somatic mutational landscape in sporadic human cancers.

Hum Genomics 2017 06 21;11(1):13. Epub 2017 Jun 21.

Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1186/s40246-017-0109-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480124PMC
June 2017

Telomere erosion in NF1 tumorigenesis.

Oncotarget 2017 Jun;8(25):40132-40139

Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.18632/oncotarget.16981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522233PMC
June 2017

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Genes Chromosomes Cancer 2017 05 7;56(5):421-426. Epub 2017 Mar 7.

Institute of Cancer and Genetics, Cardiff University, UK.

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http://dx.doi.org/10.1002/gcc.22446DOI Listing
May 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

STAT3 and HIF1α Signaling Drives Oncogenic Cellular Phenotypes in Malignant Peripheral Nerve Sheath Tumors.

Mol Cancer Res 2015 Jul 1;13(7):1149-60. Epub 2015 Apr 1.

Institute of Cancer and Genetics, Cardiff University, Heath Park, Cardiff, Wales, United Kingdom.

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http://mcr.aacrjournals.org/cgi/doi/10.1158/1541-7786.MCR-14
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http://dx.doi.org/10.1158/1541-7786.MCR-14-0182DOI Listing
July 2015

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

Nature 2014 Oct 13;514(7521):247-51. Epub 2014 Aug 13.

1] Genetics Division, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA [2] Harvard Medical School, Boston, Massachusetts 02115, USA [3] Ludwig Center at Dana-Farber/Harvard Cancer Center, Boston, Massachusetts 02115, USA.

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http://www.nature.com/articles/nature13561
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http://dx.doi.org/10.1038/nature13561DOI Listing
October 2014

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.

Eur J Hum Genet 2015 Jan 23;23(1):67-71. Epub 2014 Apr 23.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2014.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266742PMC
January 2015

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hum Genomics 2013 Aug 15;7:18. Epub 2013 Aug 15.

School of Science and Technology, Nottingham Trent University, Clifton Lane, Nottingham NG11 8NS, UK.

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http://dx.doi.org/10.1186/1479-7364-7-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750751PMC
August 2013

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

J Med Genet 2013 Sep 28;50(9):606-13. Epub 2013 Jun 28.

Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2013-101648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756527PMC
September 2013

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.

Hum Genomics 2012 Sep 4;6:18. Epub 2012 Sep 4.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1186/1479-7364-6-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500234PMC
September 2012

An emerging role for microRNAs in NF1 tumorigenesis.

Hum Genomics 2012 Nov 17;6:23. Epub 2012 Nov 17.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1186/1479-7364-6-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537581PMC
November 2012

Review and update of SPRED1 mutations causing Legius syndrome.

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22152DOI Listing
November 2012

Overactivation of Ras signaling pathway in CD133+ MPNST cells.

J Neurooncol 2012 Jul 8;108(3):423-34. Epub 2012 Apr 8.

KUMC-Molecular Medicine Laboratory, Department of Medicine, The University of Kansas Medical Center, Kansas city, KS 66160, USA.

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http://dx.doi.org/10.1007/s11060-012-0852-1DOI Listing
July 2012

Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):287-93. Epub 2012 Jan 25.

Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1167/iovs.11-8225DOI Listing
January 2012

Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Hum Genomics 2011 Oct;5(6):623-90

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525246PMC
http://dx.doi.org/10.1186/1479-7364-5-6-623DOI Listing
October 2011

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Eur J Hum Genet 2012 Apr 23;20(4):411-9. Epub 2011 Nov 23.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park Way, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2011.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306856PMC
April 2012

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Hum Genet 2012 Mar 9;131(3):325-40. Epub 2011 Oct 9.

School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1007/s00439-011-1100-zDOI Listing
March 2012

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

J Med Genet 2011 Apr 28;48(4):256-60. Epub 2011 Jan 28.

Department of Clinical Genetics, West Midlands Regional Genetics Unit, Birmingham, UK.

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http://dx.doi.org/10.1136/jmg.2010.081760DOI Listing
April 2011

Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors.

Authors:
Meena Upadhyaya

Front Biosci (Landmark Ed) 2011 Jan 1;16:937-51. Epub 2011 Jan 1.

Institute of Medical Genetics, Cardiff University, Heath Park Campus, Cardiff CF14 4XN, United Kingdom.

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http://dx.doi.org/10.2741/3727DOI Listing
January 2011

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.

J Neurooncol 2011 May 5;102(3):341-6. Epub 2010 Aug 5.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, 75006 Paris, France.

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http://dx.doi.org/10.1007/s11060-010-0328-0DOI Listing
May 2011

Neurofibromatosis type 1: diagnosis and recent advances.

Authors:
Meena Upadhyaya

Expert Opin Med Diagn 2010 Jul;4(4):307-22

Cardiff University, Institute of Medical Genetics, Heath Park, Cardiff CF14 4XN, UK

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http://dx.doi.org/10.1517/17530059.2010.494660DOI Listing
July 2010

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

Neurogenetics 2010 Oct 1;11(4):391-400. Epub 2010 Apr 1.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://link.springer.com/content/pdf/10.1007/s10048-010-0240
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http://link.springer.com/10.1007/s10048-010-0240-y
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http://dx.doi.org/10.1007/s10048-010-0240-yDOI Listing
October 2010

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings.

J Cancer Res Clin Oncol 2010 Dec 15;136(12):1869-80. Epub 2010 Mar 15.

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN Wales, UK.

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http://dx.doi.org/10.1007/s00432-010-0846-3DOI Listing
December 2010

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Hum Genet 2010 Jan;127(1):112

NF1 lab, Institute of Medical Genetics, University of Wales College of Medicine, CF14 4XN, Cardiff, United Kingdom.

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January 2010

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Hum Genet 2010 Jan;127(1):111

NF1 lab, Institute of Medical Genetics, University of Medical Genetics, CF14 4XN, Cardiff, United Kingdom.

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January 2010

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Hum Genet 2010 Jan;127(1):111

NF1 lab, Institute of Medical Genetics, University of Wales College of Medicine, CF14 4XN, Cardiff, United Kingdom.

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January 2010

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Hum Genet 2010 Jan;127(1):111-2

NF1 lab, Institute of Medical Genetics, University of Wales College of Medicine, CF14 4XN, Cardiff, United Kingdom.

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January 2010

Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.

Hum Genet 2010 Jan;127(1):111

NF1 lab, Institute of Medical Genetics, University of Wales College of Medicine, CF14 4XN, Cardiff, United Kingdom.

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January 2010

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

FEBS J 2009 Apr;276(7):2060-73

Department of Pathology, University of Cambridge, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2009.06941.xDOI Listing
April 2009

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Neurogenetics 2009 Jul 17;10(3):251-63. Epub 2009 Feb 17.

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff Cf144XN, UK.

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http://dx.doi.org/10.1007/s10048-009-0178-0DOI Listing
July 2009

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Hum Mutat 2008 Aug;29(8):E103-11

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF144XN, UK.

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http://dx.doi.org/10.1002/humu.20793DOI Listing
August 2008

Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individuals.

Genes Chromosomes Cancer 2008 Mar;47(3):238-46

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1002/gcc.20525DOI Listing
March 2008

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types.

Fam Cancer 2007 ;6(4):463-71

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1007/s10689-007-9149-5DOI Listing
March 2008

A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

Pediatr Blood Cancer 2008 Mar;50(3):713-5

Division of Pediatric Hematology-Oncology, Oncology Institute, Istanbul University, Turkey.

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http://dx.doi.org/10.1002/pbc.21234DOI Listing
March 2008

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Fam Cancer 2007 ;6(1):21-34

Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1007/s10689-006-9001-3DOI Listing
September 2007

Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

Am J Med Genet A 2004 Dec;131(3):227-31

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1002/ajmg.a.30358DOI Listing
December 2004

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Hum Genet 2004 Jun 21;115(1):69-80. Epub 2004 Apr 21.

Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00439-004-1101-2DOI Listing
June 2004

Neurofibromatosis type 1: a common familial cancer syndrome.

Methods Mol Med 2004 ;92:285-310

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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April 2004

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Hum Genet 2003 Feb 21;112(2):117-23. Epub 2002 Nov 21.

Centre d'Oncologie Génétique, Centre Léon Bérard, 28 Rue Laënnec, 69008 Lyon, France.

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http://dx.doi.org/10.1007/s00439-002-0858-4DOI Listing
February 2003

Detection of NF1 mutations utilizing the protein truncation test (PTT).

Methods Mol Biol 2003 ;217:315-27

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1385/1-59259-330-5:315DOI Listing
April 2003

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Hum Genet 2003 Jan 9;112(1):12-7. Epub 2002 Oct 9.

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.

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http://link.springer.com/10.1007/s00439-002-0840-1
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http://dx.doi.org/10.1007/s00439-002-0840-1DOI Listing
January 2003

Molecular diagnosis of facioscapulohumeral muscular dystrophy.

Expert Rev Mol Diagn 2002 Mar;2(2):160-71

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1586/14737159.2.2.160DOI Listing
March 2002