Publications by authors named "Nicole Porchet"

56Publications

Description of 22 new alpha-1 antitrypsin genetic variants.

Orphanet J Rare Dis 2018 09 17;13(1):161. Epub 2018 Sep 17.

Laboratoire de Biochimie et Biologie moléculaire Grand Est, UF "Biochimie des pathologies érythrocytaires", Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0897-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142351PMC
September 2018

Messenger RNA Life-Cycle in Cancer Cells: Emerging Role of Conventional and Non-Conventional RNA-Binding Proteins?

Int J Mol Sci 2018 Feb 25;19(3). Epub 2018 Feb 25.

University of Lille, UMR-S 1172-JPARC-Jean-Pierre Aubert Research Center, F-59000 Lille, France.

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http://dx.doi.org/10.3390/ijms19030650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877511PMC
February 2018

Hyperparathyroidism complicating CYP 24A1 mutations.

Ann Endocrinol (Paris) 2016 Oct 1;77(5):615-619. Epub 2016 Jul 1.

Endocrinology and Metabolism Department, C. Huriez Hospital, Lille University Hospital, 1, rue Polonovski, 59037 Lille cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2016.03.002DOI Listing
October 2016

Creatine biosynthesis and transport in health and disease.

Biochimie 2015 Dec 2;119:146-65. Epub 2015 Nov 2.

Biochemistry and Molecular Biology, Hormonology-Metabolism-Nutrition & Oncology (HMNO), Center of Biology & Pathology (CBP) Pierre-Marie Degand, CHRU Lille, 59037 Lille, France; RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364, Université Lille 2, Lille, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2015.10.022DOI Listing
December 2015

The mucin MUC4 is a transcriptional and post-transcriptional target of K-ras oncogene in pancreatic cancer. Implication of MAPK/AP-1, NF-κB and RalB signaling pathways.

Biochim Biophys Acta 2015 Dec 22;1849(12):1375-84. Epub 2015 Oct 22.

Inserm, UMR-S 1172, Jean Pierre Aubert Research Center, Team "Mucins, epithelial differentiation and carcinogenesis", 1 rue Polonovski, 59045 Lille cedex, France; Univ Lille Nord de France, 42 rue Paul Duez, F-59000 Lille, France; Centre Hospitalier Régional et Universitaire de Lille, Place de Verdun, 59037 Lille cedex, France.

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http://dx.doi.org/10.1016/j.bbagrm.2015.10.014DOI Listing
December 2015

[Development of a laboratory test on dried blood spots for facilitating early diagnosis of alpha-1-antitrypsin deficiency].

Ann Biol Clin (Paris) 2014 Nov-Dec;72(6):689-704

Laboratoire de biochimie et biologie moléculaire (HMNO), Centre de biologie pathologie, CHRU de Lille, Lille, France.

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http://dx.doi.org/10.1684/abc.2014.1004DOI Listing
August 2015

MUC5AC hypomethylation is a predictor of microsatellite instability independently of clinical factors associated with colorectal cancer.

Int J Cancer 2015 Jun 4;136(12):2811-21. Epub 2014 Dec 4.

Inserm, UMR837, Team 5 "Mucins, Epithelial Differentiation and Carcinogenesis," Jean-Pierre Aubert Research Center, Lille, France; Pathology Institute, Biology Pathology Center, Lille University Hospital, Lille, France; North of France University, Lille, France.

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http://dx.doi.org/10.1002/ijc.29342DOI Listing
June 2015

TP53 mutations in colorectal cancer from Tunisia: relationships with site of tumor origin, microsatellite instability and KRAS mutations.

Mol Biol Rep 2014 Mar 18;41(3):1807-13. Epub 2014 Jan 18.

Laboratory of Biochemistry and Molecular Biology, Science University of Tunis, Tunis, Tunisia,

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http://dx.doi.org/10.1007/s11033-014-3030-zDOI Listing
March 2014

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Eur J Hum Genet 2014 Sep 4;22(9):1149-52. Epub 2013 Dec 4.

1] Laboratoire de biochimie 'hormonologie, métabolisme-nutrition, oncologie', Centre de Biologie Pathologie, CHRU de Lille, Lille Cedex, France [2] INSERM, U837, Team 5, Lille Cedex, France.

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http://dx.doi.org/10.1038/ejhg.2013.279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135403PMC
September 2014

Somatic molecular changes and histo-pathological features of colorectal cancer in Tunisia.

World J Gastroenterol 2013 Aug;19(32):5286-94

Laboratory of Biochemistry and Molecular Biology, Science University of Tunis, 2092 El Manar Tunis, Tunisia.

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http://dx.doi.org/10.3748/wjg.v19.i32.5286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752562PMC
August 2013

Mitochondrial dysfunction and lipid homeostasis.

Curr Drug Metab 2012 Dec;13(10):1388-400

Inserm Lab Ext, CHRU Lille, 59037 Lille, France.

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http://dx.doi.org/10.2174/138920012803762792DOI Listing
December 2012

The complex intratumoral heterogeneity of colon cancer highlighted by laser microdissection.

Dig Dis Sci 2012 May 25;57(5):1271-80. Epub 2011 Dec 25.

Department of Pathology, CHRU de Lille, Centre de Biologie Pathologie, Avenue Oscar Lambret, 59037 Lille Cedex, France.

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http://dx.doi.org/10.1007/s10620-011-2023-1DOI Listing
May 2012

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Hum Mutat 2012 Jan 31;33(1):180-8. Epub 2011 Oct 31.

Oncologie et Génétique Moléculaires, Service de Biochimie et Biologie Moléculaire HMNO, CHRU de Lille, France.

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http://dx.doi.org/10.1002/humu.21617DOI Listing
January 2012

Lynch syndrome in Tunisia: first description of clinical features and germline mutations.

Int J Colorectal Dis 2011 Apr 11;26(4):455-67. Epub 2011 Feb 11.

Laboratoire de Biochimie et Biologie Moléculaire de Faculté des Sciences de Tunis, Tunis, Tunisia.

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http://dx.doi.org/10.1007/s00384-010-1129-9DOI Listing
April 2011

Loss of 1p, 19q, and 10q heterozygosity prospectively predicts prognosis of oligodendroglial tumors--towards individualized tumor treatment?

Neuro Oncol 2010 May 14;12(5):490-9. Epub 2010 Feb 14.

Neuro-oncology and Neurosurgery Department, R Salengro Hospital, Biology and Pathology Center, Lille University Medical Center, Lille, France.

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https://academic.oup.com/neuro-oncology/article/12/5/490/115
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http://dx.doi.org/10.1093/neuonc/nop071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940615PMC
May 2010

Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

Eur J Endocrinol 2009 Feb 24;160(2):227-31. Epub 2008 Nov 24.

Laboratoire de Biochimie Hormonologie, Métabolisme-Nutrition, Oncologie, Centre de Biologie et Pathologie, CHRU de Lille, France.

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http://dx.doi.org/10.1530/EJE-08-0574DOI Listing
February 2009

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

J Clin Endocrinol Metab 2008 May 22;93(5):1609-15. Epub 2008 Jan 22.

Laboratoire de Biochimie et Hormonologie, Centre de Biologie et Pathologie, Centre Hospitalier Régional & Universitaire, Lille cedex, France.

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http://dx.doi.org/10.1210/jc.2007-1989DOI Listing
May 2008

Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System.

Clin Chem Lab Med 2008 ;46(2):260-3

Laboratoire de Biochimie Biologie Moléculaire, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.

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http://dx.doi.org/10.1515/CCLM.2008.036DOI Listing
May 2008

Transcription factor AP-2alpha represses both the mucin MUC4 expression and pancreatic cancer cell proliferation.

Carcinogenesis 2007 Nov 9;28(11):2305-12. Epub 2007 Jul 9.

INSERM, U837, Place de Verdun, 59045 Lille cedex, France.

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http://dx.doi.org/10.1093/carcin/bgm158DOI Listing
November 2007

[MUC1 (EMA): A key molecule of carcinogenesis?].

Ann Pathol 2006 Sep;26(4):257-66

Service d'Anatomie Pathologique, Pôle Eurasanté, Bâtiment Biologie-Pathologie, CHRU, 59037 Lille.

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http://dx.doi.org/10.1016/s0242-6498(06)70718-0DOI Listing
September 2006

MUC4 gene polymorphism and expression in women with implantation failure.

Hum Reprod 2006 Sep 28;21(9):2238-45. Epub 2006 Jun 28.

Laboratoire de Biologie de la Reproduction, C.M.C.O., Schiltigheim Cedex, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/del189DOI Listing
September 2006

Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.

J Mol Endocrinol 2006 Apr;36(2):369-76

Unité Fonctionnelle d'Oncologie - Laboratoire de Biochimie, Hormonologie, Métabolisme-Nutrition, Oncologie - Eurasanté- CHRU Lille, Rue du Docteur Yersin, 59037 Lille Cedex, France.

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http://intl-jme.endocrinology-journals.org/content/36/2/369.
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http://jme.endocrinology-journals.org/cgi/doi/10.1677/jme.1.
Publisher Site
http://dx.doi.org/10.1677/jme.1.01903DOI Listing
April 2006

[MUC genes: mucin or not mucin? That is the question].

Med Sci (Paris) 2004 May;20(5):569-74

Inserm U.560, place de Verdun, 59045 Lille, France.

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http://dx.doi.org/10.1051/medsci/2004205569DOI Listing
May 2004

Expression of human mucin genes during normal and abnormal renal development.

Am J Clin Pathol 2003 Oct;120(4):544-50

Unit INSERM U560, Department of Pathology, University Hospitals, Lille, France.

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http://dx.doi.org/10.1309/A9YM-1CBQ-DYFR-C2EYDOI Listing
October 2003

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

Electrophoresis 2003 Jan;24(1-2):26-33

Secteur Oncologie Moléculaire Huriez-USN, Laboratoire de Biochimie et Biologie Moléculaire, CHRU, Lille, France.

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http://doi.wiley.com/10.1002/elps.200390023
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http://dx.doi.org/10.1002/elps.200390023DOI Listing
January 2003

Detection of bone marrow-disseminated breast cancer cells using an RT-PCR assay of MUC5B mRNA.

Int J Cancer 2003 Feb;103(4):550-5

Laboratorio de Oncología Básica y Biología Molecular, Depto. de Bioquímica, Facultad de Medicina, Av. Gral. Flores 2125, Montevideo CP 11800, Uruguay.

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http://dx.doi.org/10.1002/ijc.10853DOI Listing
February 2003