Genomes and Genes
- TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeCatherine Boileau
Institut National de la Santé et de la Recherche Médicale INSERM U698, Hopital Bichat, Paris, France
Nat Genet 44:916-21. 2012....
- Aortic event rate in the Marfan population: a cohort studyGuillaume Jondeau
Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, 75018 Paris, France
Circulation 125:226-32. 2012..Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease...
- Association study of B-cell marker gene polymorphisms in European Caucasian patients with systemic sclerosisKaren Dawidowicz
Universite Paris Diderot, Hopital Bichat Claude Bernard, Assistance Publique Hopitaux de Paris AP HP, Paris, France
Clin Exp Rheumatol 29:839-42. 2011..BANK1 and BLK B-cell genetic markers have been reproducibly and convincingly found to contribute to susceptibility to systemic sclerosis (SSc)...
- Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severityPhilippe Dieude
Service de Rhumatologie, Hopital Bichat Claude Bernard, APHP, Université Diderot Paris 7, Paris, France
J Rheumatol 37:987-92. 2010..Our aim was to investigate whether IRF5 haplotypes confer susceptibility to SSc, and to perform genotype haplotype-phenotype correlation analyses...
- A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosisEugénie Koumakis
INSERM, Institut Cochin, Cochin Hospital, AP HP, Inserm U1016, Sorbonne Paris Cité, and Paris Descartes University, Paris, France
Arthritis Rheum 65:3202-8. 2013..The present study was thus undertaken to investigate whether CCR6 polymorphisms could also be associated with susceptibility to SSc...
- Molecular spectrum of autosomal dominant hypercholesterolemia in FranceMarie Marduel
Institut National de la Sante et de la Recherche Medicale, U781, 75015, Paris, France 2 Université Paris Descartes, 75006, Paris, France
Hum Mutat 31:E1811-24. 2010..9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands,no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes...
- TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patientsEugénie Koumakis
Paris Descartes University, Inserm U1016, Institut Cochin, Sorbonne Paris Cité, Paris, France
Ann Rheum Dis 71:1900-3. 2012..Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH...
- Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian populationBaptiste Coustet
Inserm U1016, Universite Paris Descartes, Hopital Cochin, Paris, France
Clin Exp Rheumatol 29:S6-9. 2011..Systemic sclerosis (SSc) belongs to connective tissue disorders and recent data have highlighted strong associations with some autoimmunity genes shared with other autoimmune diseases...
- C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysisBaptiste Coustet
Inserm U1016, Universite Paris Descartes, Paris, France
Arthritis Rheum 63:2091-6. 2011....
- Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohortsBaptiste Coustet
Universite Paris Descartes, Rhumatologie A, Hopital Cochin, APHP, Paris, France
J Rheumatol 38:1033-8. 2011..To determine whether novel risk loci associated with systemic lupus erythematosus or multiple sclerosis may confer susceptibility to SSc, we tested single-nucleotide polymorphisms (SNP) from ITGAM, ITGAX, and CD58 for associations...
- Angiogenic biomarkers predict the occurrence of digital ulcers in systemic sclerosisJerome Avouac
Rheumatology A Department, Paris Descartes University, Cochin Hospital, APHP, Sorbonne Paris Cité, Paris, France
Ann Rheum Dis 71:394-9. 2012..To evaluate the possible merit of endothelial markers for the prediction of ischaemic digital ulcers in patients with systemic sclerosis (SSc)...
- Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Detaint
AP HP, Hopital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F 75018, France
Eur Heart J 31:2223-9. 2010..This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation...
- Surgical management of patients with Marfan syndrome: evolution throughout the yearsAlireza Samadi
Service de cardiologie, Centre de référence pour les syndromes de Marfan et apparentés, Hopital Bichat, Paris, France
Arch Cardiovasc Dis 105:84-90. 2012..To evaluate the evolution of surgical management in a large population of patients with Marfan syndrome...
- Association study of CRP gene in systemic sclerosis in European Caucasian populationJulien Wipff
Rhumatologie A, APHP, Hopital Cochin, Universite Paris Descartes, 27 rue du Faubourg St Jacques, 75014, Paris, France
Rheumatol Int 34:389-92. 2014..These results obtained through a large cohort of European Caucasian SSc patients do not support the implication of CRP gene in the pathogenesis of SSc. ..
- Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutationMarie Marduel
INSERM U698, Paris, France
Hum Mutat 34:83-7. 2013..Our results show that mutations in the APOE gene can be associated with bona fide ADH...
- Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunityEugénie Koumakis
Paris Descartes University, Inserm U1016, Institut Cochin, and Cochin Hospital, AP HP, Paris, France
Arthritis Rheum 64:2746-52. 2012..The present study was undertaken to investigate whether rare variants of TNFAIP3 and TREX1 are also associated with SSc...
- Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias
Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
Circulation 120:2541-9. 2009..TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear...
- A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1Alice Marques-Pinheiro
INSERM U781, Universite Paris Descartes, Paris, France
Eur J Hum Genet 18:1236-42. 2010..Finally, our results also show the existence of other ADH genes as nine families were neither linked to LDLR, APOB, and PCSK9 genes nor to the new HCHOLA4 locus...
- The translational science of Marfan syndromeGuillaume Jondeau
Centre National de Référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris 75018, France
Heart 97:1206-14. 2011..Here we review some of the new data obtained in the understanding of the pathophysiology and genetics of this disease...
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff
Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
Am J Hum Genet 89:7-14. 2011..Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes...
- Dissection in Marfan syndrome: the importance of the descending aortaLea Mimoun
Service de cardiologie, Centre de référence pour les syndromes de Marfan et apparentés, Hopital Bichat, AP HP, Paris, France
Eur Heart J 32:443-9. 2011..Up until now, this portion of the aorta has not been well studied but is gaining importance due to improved patient survival...
- Marfan Sartan: a randomized, double-blind, placebo-controlled trialOlivier Milleron
Centre National de Référence pour le syndrome de Marfan et apparentés, Hopital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP HP, Hopital Bichat, Paris, France
Eur Heart J 36:2160-6. 2015..To evaluate the benefit of adding Losartan to baseline therapy in patients with Marfan syndrome (MFS)...
- Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosisBaptiste Coustet
Universite Paris Descartes, Rhumatologie A, Inserm U1016, Hopital Cochin, APHP, Paris, France
J Rheumatol 39:997-1003. 2012..Our objective was to validate TNFSF4 association with SSc and determine the subset with the higher risk...
- The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier geneMarianne Abifadel
INSERM, U781, Paris, France
Hum Mutat 30:E682-91. 2009..Thus, by studying for the first time the impact of PCSK9 polymorphism on LDL-cholesterol levels of FH patients carrying a same LDLR mutation, we show that PCSK9 might constitute a modifier gene in familial hypercholesterolemia...
- Genetics of thoracic aortic aneurysmsGuillaume Jondeau
AP HP, Centre de Référence National pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
Curr Atheroscler Rep 14:219-26. 2012..The following is a review of the phenotypes associated with the different mutations and the clinical consequences of this recent information...
- Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndromeDelphine Detaint
Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
Arch Cardiovasc Dis 103:317-25. 2010....
- MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsMathieu Barbier
Inserm U1148, Laboratory for Vascular Translational Science, Hopital Bichat, Universite Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France
Am J Hum Genet 95:736-43. 2014..Thus, alteration of MAGP-2, a component of microfibrils and elastic fibers, appears as an initiating mechanism of inherited TAAD. ..
- Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognitionChantal Stheneur
1 AP HP, Hopital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France 2 AP HP, Hopital Ambroise Pare, Service de Pediatrie, Boulogne, France
Genet Med 16:246-50. 2014..Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age...
- Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)Amandine Georges
INSERM U781, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, 75015, France
Orphanet J Rare Dis 6:1. 2011....
- Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndromeAlice Marques-Pinheiro
INSERM U781, Paris Descartes University, Necker Hospital, Paris, France
Joint Bone Spine 77:151-3. 2010..Rheumatologists must be aware of LRP5 gene that in addition to being a major gene in the mendelian disease that is OPPG syndrome seems to be involved in osteoporosis in the general population through some of its polymorphisms...
- Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosisYannick Allanore
Universite Paris Descartes, Rhumatologie A, INSERM, U1016, Hopital Cochin, APHP, Paris, France
PLoS Genet 7:e1002091. 2011..The genetic signal of association with TNIP1 variants, together with tissular and cellular investigations, suggests that this pathway has a critical role in regulating autoimmunity and SSc pathogenesis...
- Insights into the pathogenesis of systemic sclerosis based on the gene expression profile of progenitor-derived endothelial cellsJerome Avouac
Université Paris Descartes and Hôpital Cochin, AP HP, and INSERM U1016, Cochin Institut, Paris, France
Arthritis Rheum 63:3552-62. 2011..To determine the gene expression profile of endothelial cells derived from the endothelial progenitor cells (EPCs) of patients with systemic sclerosis (SSc)...
- Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosisJulien Wipff
Universite Paris Descartes, Rhumatologie A, Hopital Cochin, AP HP, Paris, France
Rheumatology (Oxford) 49:657-61. 2010..To assess dermal expression and fibroblast production of fibrillin-1 (FBN-1) in SSc...
- LOX Mutations Predispose to Thoracic Aortic Aneurysms and DissectionsDong Chuan Guo
From the Departments of Internal Medicine D G, E S R, L G, X D, Z R, B C, E M H, D M M and Cardiothoracic and Vascular Surgery A E, H J S, University of Texas Health Science Center, Houston Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX R L P S C, S M L Laboratory for Vascular Translational Science, Inserm U1148, Hopital Bichat, Paris, France P A, G J, C B Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP HP, Hopital Bichat, Paris, France P A, C B Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH R M Department of Medicine, Stanford University Medical Center, CA D L and Department of Genome Sciences, University of Washington, Seattle M J B, J S, D A N
Circ Res 118:928-34. 2016..Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections. However, the causative gene remains unknown in 75% of families...
- Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening conditionMélodie Aubart
INSERM U698, Hopital Bichat, Paris, France
PLoS ONE 9:e96387. 2014..Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined...
- Aortic Disease Presentation and Outcome Associated With ACTA2 MutationsEllen S Regalado
Departments of Internal Medicine E S R, D G, S P, T A B, K F, D M M, Cardiothoracic and Vascular Surgery A E, H S, University of Texas Health Science Center at Houston Department of Medicine, Stanford University Medical Center, CA D L Connective Tissue Gene Tests, Allentown, PA J H Department of Cardiac and Vascular Sciences, St George s, University of London, London, United Kingdom A C, G A AP HP, Hopital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France C B, G J, Universite Paris 7, Paris, France C B, G J, AP HP, Hopital Bichat, Laboratoire de Genetique Moleculaire, Boulogne, France C B, and INSERM, U1148, Paris, France C B, Division of General Surgery of First Hospital of Xi'an Jiaotong University
Circ Cardiovasc Genet 8:457-64. 2015..ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations...
- Familial thoracic aortic aneurysmsGuillaume Jondeau
aService de Cardiologie bDepartement de Genetique Moléculaire, Centre National de Référence pour le syndrome de Marfan et apparentés, INSERM LVTS U1148, Faculté Paris Diderot, AP HP Hôpital Bichat, Paris, France
Curr Opin Cardiol 29:492-8. 2014..A lot of new data have been obtained in familial thoracic aortic aneurysms, including description of new entities and better understanding of pathophysiology. The aim of this review is to put them in perspective...
- Nomograms for aortic root diameters in children using two-dimensional echocardiographyMathieu Gautier
Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, AP HP, Paris, France Service de Cardiologie, Hopital Bichat, AP HP, Paris, France
Am J Cardiol 105:888-94. 2010....
- Maternal complication of pregnancy in Marfan syndromeLaure Pacini
Centre de Référence National Syndrome de Marfan et Apparentés, Hopital Bichat, AP HP, faculté Paris 7, 75018 Paris, France
Int J Cardiol 136:156-61. 2009..Evaluate the risk of aortic complications (aortic dissection or prophylactic aortic surgical replacement) associated with pregnancy in Marfan syndrome in the absence of specific care...
- Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and diseaseMarianne Abifadel
Institut Nationale de la Santé et de la Recherche Médicale INSERM, U781, Paris, France
Hum Mutat 30:520-9. 2009..Finally, we present future prospects concerning this therapeutic target that might constitute a new approach to reduce cholesterol levels and CHD, and enhance the effectiveness of other lipid-lowering drugs...
- Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European CaucasiansJulien Wipff
Paris Descartes Université, Rhumatologie A, Hopital Cochin, AP HP, Paris, France
J Rheumatol 36:337-40. 2009..To determine whether angiotensin-converting enzyme (ACE) polymorphisms including I/D and 2 single-nucleotide polymorphisms (SNP) affect susceptibility to systemic sclerosis (SSc) in a large French Caucasian population...