Publications by authors named "Claude Férec"

100Publications

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Pancreatology 2020 Sep 7. Epub 2020 Sep 7.

Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, APHP. Centre-Université de Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pan.2020.09.001DOI Listing
September 2020

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Curr Genomics 2020 Jan;21(1):56-66

1EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200Brest, France; 2Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China; 3Shanghai Institute of Pancreatic Diseases, Shanghai, China; 4CHRU Brest, Service de Génétique Médicale et de Biologie de la Reproduction, Brest, France; 5Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.2174/1389202921666200210141701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324893PMC
January 2020

The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the Gene Discovery.

Genes (Basel) 2020 May 26;11(6). Epub 2020 May 26.

Inserm, University of Brest, EFS, UMR 1078, GGB, F-29200 Brest, France.

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http://dx.doi.org/10.3390/genes11060589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348877PMC
May 2020

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Hum Mutat 2020 Aug 12;41(8):1358-1364. Epub 2020 May 12.

EFS, Univ Brest, INSERM, UMR 1078, GGB, Brest, France.

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http://dx.doi.org/10.1002/humu.24029DOI Listing
August 2020

Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.

Pancreatology 2020 Apr 20;20(3):377-384. Epub 2020 Jan 20.

The Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Pathology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1016/j.pan.2020.01.011DOI Listing
April 2020

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.

Mol Genet Genomic Med 2020 03 21;8(3):e1048. Epub 2020 Jan 21.

Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.

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http://dx.doi.org/10.1002/mgg3.1048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057096PMC
March 2020

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

FASEB J 2019 12 5;33(12):14625-14635. Epub 2019 Nov 5.

INSERM Unité Mixte de Recherche (UMR) 1078, Etablissement Français du Sang-Bretagne, Institut Brestois Santé-Agro-Matière, Université Bretagne Loire-Université de Brest, Brest, France.

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http://dx.doi.org/10.1096/fj.201901857RDOI Listing
December 2019

Natural history of SPINK1 germline mutation related-pancreatitis.

EBioMedicine 2019 Oct 15;48:581-591. Epub 2019 Oct 15.

Department of Gastroenterology and Pancreatology, Beaujon Hospital, APHP, Clichy, and Paris-Diderot University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.09.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838417PMC
October 2019

Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.

Hum Genet 2019 Dec 4;138(11-12):1275-1286. Epub 2019 Oct 4.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, CHRU de Brest, Bretagne, Brest, France.

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http://dx.doi.org/10.1007/s00439-019-02068-8DOI Listing
December 2019

Compound Heterozygosity for Novel Truncating Variants in the Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Front Genet 2019 13;10:835. Epub 2019 Sep 13.

Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

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http://dx.doi.org/10.3389/fgene.2019.00835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753228PMC
September 2019

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression.

Ann Clin Transl Neurol 2019 09 10;6(9):1681-1695. Epub 2019 Aug 10.

UMR 1078 Genetics, Functional Genomics and Biotechnology, Inserm, Université de Brest, EFS, CHU de Brest, Brest, France.

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http://dx.doi.org/10.1002/acn3.50861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764628PMC
September 2019

Pitfalls in the interpretation of CFTR variants in the context of incidental findings.

Hum Mutat 2019 12 26;40(12):2239-2246. Epub 2019 Aug 26.

Laboratoire de Génétique et Biologie Moléculaires, AP-HP, Hôpital Cochin, HUPC, Paris, France.

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http://dx.doi.org/10.1002/humu.23884DOI Listing
December 2019

A novel JK null allele in a Brazilian patient with sickle cell disease (SCD).

Transfusion 2019 07 9;59(7):2459-2460. Epub 2019 Apr 9.

UMR1078 - Etablissement Français du Sang, Inserm, Univ Brest, Brest, France.

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http://dx.doi.org/10.1111/trf.15304DOI Listing
July 2019

Most unambiguous loss-of-function mutations are unlikely to predispose to chronic pancreatitis.

Gut 2020 Apr 12;69(4):785-786. Epub 2019 Mar 12.

EFS, Univ Brest, Inserm, UMR 1078, GGB, Brest, France.

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http://dx.doi.org/10.1136/gutjnl-2019-318564DOI Listing
April 2020

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.

Transfusion 2019 04 27;59(4):1367-1375. Epub 2019 Feb 27.

UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", INSERM, EFS, Université de Brest, IBSAM, CHU de Brest, Brest, France.

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http://dx.doi.org/10.1111/trf.15210DOI Listing
April 2019

An essential role for α4A-tubulin in platelet biogenesis.

Life Sci Alliance 2019 02 13;2(1). Epub 2019 Feb 13.

Université de Strasbourg, Institut National de la Santé et de la Recherche Médicale, Etablissement Français du Sang Grand Est, Unité Mixte de Recherche-S 1255, Fédération de Médecine Translationnelle de Strasbourg, Strasbourg, France

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http://dx.doi.org/10.26508/lsa.201900309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374996PMC
February 2019

Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors.

Blood Transfus 2019 03 24;17(2):151-156. Epub 2018 Oct 24.

Laboratory of Haematology, Cellular and Genetic Engineering, Faculty of Medicine and Pharmacy Casablanca, Hassan II University of Casablanca, Casablanca, Morocco.

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http://www.bloodtransfusion.it/articolosing.aspx?id=000987
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http://dx.doi.org/10.2450/2018.0153-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476734PMC
March 2019

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

J Mol Diagn 2019 01 5;21(1):70-80. Epub 2018 Oct 5.

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio; Human Molecular Genetics Program, Lurie Children's Research Center, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183023
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http://dx.doi.org/10.1016/j.jmoldx.2018.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315324PMC
January 2019

The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Haematologica 2018 11 12;103(11):1796-1805. Epub 2018 Jul 12.

UMR1078, INSERM, Université Bretagne Loire - Université de Bretagne Occidentale, Etablissement Français du Sang - Bretagne, Institut Brestois Santé-Agro-Matière, Brest, France

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http://dx.doi.org/10.3324/haematol.2018.189845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278975PMC
November 2018

Novel long-range regulatory mechanisms controlling PKD2 gene expression.

BMC Genomics 2018 Jul 3;19(1):515. Epub 2018 Jul 3.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, Bretagne, France.

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http://dx.doi.org/10.1186/s12864-018-4892-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038307PMC
July 2018

RHD-Positive Alleles among D- C/E+ Individuals from India.

Transfus Med Hemother 2018 May 10;45(3):173-177. Epub 2018 Jan 10.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR1078, Brest, France.

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http://dx.doi.org/10.1159/000479239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006600PMC
May 2018

Primary sclerosing cholangitis is associated with abnormalities in CFTR.

J Cyst Fibros 2018 09 26;17(5):666-671. Epub 2018 May 26.

Laboratory of Molecular Genetics and Histocompatibility, University Hospital of Brest, Institut National de la Santé et de la Recherche Médicale, U1078 Brest, France.

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http://dx.doi.org/10.1016/j.jcf.2018.04.005DOI Listing
September 2018

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.

Transfusion 2018 06 25;58(6):1540-1549. Epub 2018 Feb 25.

National Institute of Immunohaematology (NIIH), Indian Council of Medical Research (ICMR), KEM Hospital Campus, Parel, Mumbai, India.

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http://dx.doi.org/10.1111/trf.14552DOI Listing
June 2018

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.

BMC Pregnancy Childbirth 2018 02 17;18(1):53. Epub 2018 Feb 17.

UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", Inserm, EFS, Université de Brest, ISBAM, 22 avenue Camille Desmoulins, 29200, Brest, France.

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http://dx.doi.org/10.1186/s12884-018-1684-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816504PMC
February 2018

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Hum Genomics 2018 01 25;12(1). Epub 2018 Jan 25.

UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", INSERM, EFS - Bretagne, Université de Brest, CHRU Brest, Brest, France.

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http://dx.doi.org/10.1186/s40246-018-0135-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784706PMC
January 2018

GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?

Int J Pediatr Otorhinolaryngol 2017 Nov 14;102:80-85. Epub 2017 Sep 14.

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospital CHU Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.09.011DOI Listing
November 2017

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

Am J Hematol 2017 12 23;92(12):E664-E666. Epub 2017 Oct 23.

Université Bretagne Loire, Université de Bretagne Occidentale, IBSAM, Brest, France.

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http://dx.doi.org/10.1002/ajh.24912DOI Listing
December 2017

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.

Genes (Basel) 2017 Oct 10;8(10). Epub 2017 Oct 10.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest 29238, France.

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http://dx.doi.org/10.3390/genes8100263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664113PMC
October 2017

The risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation.

Gut 2018 07 26;67(7):1368-1369. Epub 2017 Sep 26.

Department of Gastroenterology, Digestive Endoscopy Center, Changhai Hospital, the Second Military Medical University, Shanghai, China.

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http://dx.doi.org/10.1136/gutjnl-2017-315180DOI Listing
July 2018

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Hum Mutat 2017 12 12;38(12):1660-1665. Epub 2017 Oct 12.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.23343DOI Listing
December 2017

Adhesion, proliferation and osteogenic differentiation of human MSCs cultured under perfusion with a marine oxygen carrier on an allogenic bone substitute.

Artif Cells Nanomed Biotechnol 2018 Feb 22;46(1):95-107. Epub 2017 Aug 22.

a Functional Genetics Department, INSERM Research Unit 1078 , University of Western Brittany, European Brittany University , Brest , France.

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http://dx.doi.org/10.1080/21691401.2017.1365724DOI Listing
February 2018

Genome-wide association study identifies inversion in the locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.

Gut 2018 10 28;67(10):1855-1863. Epub 2017 Jul 28.

Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-314454
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http://dx.doi.org/10.1136/gutjnl-2017-314454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145291PMC
October 2018

copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects.

Gut 2018 03 10;67(3):592-593. Epub 2017 Jun 10.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078 Brest, France.

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-314443
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http://dx.doi.org/10.1136/gutjnl-2017-314443DOI Listing
March 2018

In silico prioritization and further functional characterization of SPINK1 intronic variants.

Hum Genomics 2017 05 4;11(1). Epub 2017 May 4.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1186/s40246-017-0103-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418720PMC
May 2017

First report of Rh individuals in the Indian population and characterization of the underlying molecular mechanisms.

Transfusion 2017 08 3;57(8):1944-1948. Epub 2017 May 3.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR1078, Brest, France.

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http://dx.doi.org/10.1111/trf.14150DOI Listing
August 2017

Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.

Am J Med Genet A 2017 May 3;173(5):1444-1446. Epub 2017 Apr 3.

Laboratoire de génétique moléculaire et d'histocompatibilité, CHRU Morvan, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.38180DOI Listing
May 2017

HEMOXCell, a New Oxygen Carrier Usable as an Additive for Mesenchymal Stem Cell Culture in Platelet Lysate-Supplemented Media.

Artif Organs 2017 Apr 22;41(4):359-371. Epub 2017 Mar 22.

Functional Genetics Department, INSERM Research Unit 1078, University of Western Brittany, European Brittany University.

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http://dx.doi.org/10.1111/aor.12892DOI Listing
April 2017

In vitro and in silico evidence against a significant effect of the c.194G>A variant on pre-mRNA splicing.

Gut 2017 12 20;66(12):2195-2196. Epub 2017 Mar 20.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1136/gutjnl-2017-313948DOI Listing
December 2017

Calumenin contributes to ER-Ca homeostasis in bronchial epithelial cells expressing WT and F508del mutated CFTR and to F508del-CFTR retention.

Cell Calcium 2017 03 4;62:47-59. Epub 2017 Feb 4.

INSERM U1078 « Génétique, Génomique fonctionnelle et biotechnologies », Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 29200 Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.ceca.2017.01.011DOI Listing
March 2017

A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.

Forensic Sci Int Genet 2017 03 30;27:167-171. Epub 2016 Nov 30.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU. Avda. Miguel de Unamuno, 3, 01006 Vitoria-Gasteiz, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2016.11.011DOI Listing
March 2017

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin.

Gastroenterology 2016 10 30;151(4):769-70. Epub 2016 Aug 30.

Inserm U1078, Université Bretagne Loire-Université de Bretagne Occidentale, IBSAM, CHRU de Brest, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Etablissement Français du Sang-Bretagne, Brest, France.

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http://dx.doi.org/10.1053/j.gastro.2016.03.054DOI Listing
October 2016

Next generation sequencing with a semi-conductor technology (Ion Torrent PGM™) for HLA typing: overall workflow performance and debate.

Ann Biol Clin (Paris) 2016 Aug;74(4):449-56

Laboratoire de génétique moléculaire et d'histocompatibilité, Pôle de pathologie biologie, CHRU Morvan, Brest, France.

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http://dx.doi.org/10.1684/abc.2016.1161DOI Listing
August 2016

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.

Hum Mutat 2016 11 21;37(11):1149-1152. Epub 2016 Aug 21.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.23053DOI Listing
November 2016

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

J Cyst Fibros 2016 07 22;15(4):452-9. Epub 2016 Mar 22.

Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.02.013DOI Listing
July 2016

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.

BMC Cancer 2016 Mar 11;16:210. Epub 2016 Mar 11.

CHRU de Brest, Hôpital Morvan, Bat 5 bis, Laboratoire de Génétique Moléculaire et d'Histocompatibilité, 2 Avenue Foch, 29200, Brest, France.

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http://dx.doi.org/10.1186/s12885-016-2249-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788951PMC
March 2016

Identification of novel variant A alleles within the ABO gene.

Transfusion 2016 05 26;56(5):1244-6. Epub 2016 Feb 26.

Etablissement Français du Sang (EFS)-Région Bretagne, Brest.

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http://dx.doi.org/10.1111/trf.13542DOI Listing
May 2016

Digging deeper into the intronic sequences of the SPINK1 gene.

Gut 2016 06 16;65(6):1055-6. Epub 2016 Feb 16.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France Etablissement Français du Sang (EFS)-Bretagne, Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.

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http://gut.bmj.com/content/early/2016/02/16/gutjnl-2016-3114
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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2016-311428
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http://dx.doi.org/10.1136/gutjnl-2016-311428DOI Listing
June 2016

Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.

Transfus Med Hemother 2015 Nov 23;42(6):372-7. Epub 2015 Jul 23.

French Blood Institute (EFS-Bretagne), Brest, France; National Institute of Health and Medical Research (Inserm, UMR1078), Brest, France; Faculty of Medicine and Health Sciences, University of Western Brittany, Brest, France; Molecular Genetics and Histocompatibility Laboratory, Regional University Hospital (CHRU), Morvan Hospital, Brest, France.

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http://dx.doi.org/10.1159/000382086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698597PMC
November 2015

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis.

Gut 2016 May 30;65(5):884-6. Epub 2015 Dec 30.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France Etablissement Français du Sang (EFS)-Bretagne, Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.

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http://dx.doi.org/10.1136/gutjnl-2015-311168DOI Listing
May 2016

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.

Nucleic Acids Res 2016 Apr 28;44(6):2564-76. Epub 2015 Nov 28.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Inserm U1078, Université de Brest, SFR ScInBioS, CHRU de Brest, Établissement Français du Sang - Bretagne, Brest, France

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http://dx.doi.org/10.1093/nar/gkv1300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824072PMC
April 2016

Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice.

Hum Pathol 2015 Nov 15;46(11):1582-91. Epub 2015 Jul 15.

Service d'Anatomie et Cytologie Pathologiques, CHRU Brest, Brest, F-29220 France; Université Européenne de Bretagne, Brest, F-29200 France; Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, F-29200 France. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2015.06.023DOI Listing
November 2015

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639.

Gut 2015 Nov 5;64(11):1837-8. Epub 2015 Aug 5.

Institut National de la Santé et de la Recherche Médicale (INSERM), Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France Etablissement Français du sang (EFS)-Bretagne, Brest, France Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire (CHRU) Brest, Hôpital Morvan, Brest, France.

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http://gut.bmj.com/content/64/11/1837.full.pdf
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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2015-310254
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http://dx.doi.org/10.1136/gutjnl-2015-310254DOI Listing
November 2015

Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.

Hum Mutat 2015 Nov 3;36(11):1034-8. Epub 2015 Aug 3.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/humu.22831DOI Listing
November 2015

Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular Mechanisms.

Pancreas 2015 Aug;44(6):999-1001

Institut National de la Santé et de la Recherche Médicale (INSERM) Faculté de Médecine et des Sciences de la Santé Université de Bretagne Occidentale (UBO) Etablissement Français du Sang (EFS)-Bretagne Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire Brest, Hôpital Morvan Brest, France

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http://dx.doi.org/10.1097/MPA.0000000000000359DOI Listing
August 2015

Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic Pancreatitis.

Pancreas 2015 Aug;44(6):996-8

Institut National de la Santé et de la Recherche Médicale (INSERM) Faculté de Médecine et des Sciences de la Santé Université de Bretagne Occidentale (UBO) Etablissement Français du Sang (EFS)-Bretagne Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Régional Universitaire Brest, Hôpital Morvan Brest, France

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http://dx.doi.org/10.1097/MPA.0000000000000361DOI Listing
August 2015

Molecular RHD-RHCE Analysis by Multiplex PCR of Short Fluorescent Fragments.

Methods Mol Biol 2015 ;1310:97-104

Etablissement Français du Sang (EFS) - Bretagne, 46 rue Félix Le Dantec, 29218, Brest, France,

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http://dx.doi.org/10.1007/978-1-4939-2690-9_8DOI Listing
February 2016

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Hum Mutat 2015 Aug 17;36(8):758-63. Epub 2015 Jun 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.22815DOI Listing
August 2015

Advancement in recombinant protein production using a marine oxygen carrier to enhance oxygen transfer in a CHO-S cell line.

Artif Cells Nanomed Biotechnol 2015 Jun 11;43(3):186-95. Epub 2015 May 11.

Functional Genetics Department, INSERM Research Unit 1078, University of Western Brittany, European Brittany University , 46 Rue Fèlix Le Dantec, CS51819, 29218 Brest Cedex 02 , France.

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http://dx.doi.org/10.3109/21691401.2015.1029632DOI Listing
June 2015

Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation.

PLoS One 2015 8;10(4):e0124124. Epub 2015 Apr 8.

EA 3882-Laboratoire Universitaire de Biodiversité et Ecologie Microbienne, Université de Brest, Brest, France; Département de Bactériologie-Virologie, Hygiène et Parasitologie-Mycologie, CHRU Brest, Brest, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124124PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390299PMC
March 2016

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Transfusion 2015 Jun 21;55(6 Pt 2):1432-43. Epub 2015 Mar 21.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR1078.

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http://dx.doi.org/10.1111/trf.13083DOI Listing
June 2015

G551D-CFTR needs more bound actin than wild-type CFTR to maintain its presence in plasma membranes.

Cell Biol Int 2015 Aug 8;39(8):978-85. Epub 2015 Apr 8.

Inserm, UMR1078, Brest, F-29218, France.

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http://dx.doi.org/10.1002/cbin.10456DOI Listing
August 2015

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

J Hepatol 2015 Mar 18;62(3):664-72. Epub 2014 Oct 18.

CHU de Rennes, Liver Unit and French Reference Centre for Rare Iron Overload Diseases of Genetic Origin, Rennes, France; INSERM, UMR 991, Equipe Fer et Foie, Rennes, France; INSERM, Centre of Clinical Investigation 0203, CHU de Rennes, Rennes, France.

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http://dx.doi.org/10.1016/j.jhep.2014.10.017DOI Listing
March 2015