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Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N Robinson, Helenius J Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M Krawitz
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS)...
January 9, 2018: Genome Medicine
Mansi Kanhere, Jiabei He, Benoit Chassaing, Thomas R Ziegler, Jessica A Alvarez, Elizabeth A Ivie, Li Hao, John Hanfelt, Andrew T Gewirtz, Vin Tangpricha
Context: Disruption of gut microbiota may exacerbate severity of cystic fibrosis (CF). Vitamin D deficiency is a common comorbidity in patients with CF that may influence composition of the gut microbiota. Objectives: Compare microbiota of vitamin D-sufficient and -insufficient CF patients and assess impact of a weekly high-dose vitamin D3 bolus regimen on gut and airway microbiome in adults with CF and vitamin D insufficiency (25-hydroxyvitamin D < 30 ng/mL)...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
J Plaisancié, N K Ragge, H Dollfus, J Kaplan, D Lehalle, C Francannet, G Morin, H Colineaux, P Calvas, N Chassaing
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with an MA phenotype...
April 2018: Clinical Genetics
P Vande Perre, C Zazo Seco, O Patat, L Bouneau, A Vigouroux, D Bourgeois, S El Hout, N Chassaing, P Calvas
Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations of FOXC1 and PITX2 are responsible for about 40% of the ARS cases. We describe the phenotype of a patient carrying a deletion encompassing the 4q25 locus containing PITX2 gene. This child presented with a congenital heart defect (Tetralogy of Fallot, TOF) and no signs of ARA...
February 2018: European Journal of Medical Genetics
Lucie Etienne-Mesmin, Benoit Chassaing, Oluwaseyi Adekunle, Lisa M Mattei, Adrianne N Edwards, Shonna M McBride, Frederic D Bushman, Andrew T Gewirtz
Herein, we report the genome sequence of a Clostridium difficile strain isolated from the feces of antibiotic-treated C57BL/6 mice. We have named this strain, which differs considerably from those of the previously sequenced C. difficile strains, LEM1.
April 6, 2017: Genome Announcements
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia and Schöpf-Schulz-Passarge syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
N M Pinkerton, L Behar, K Hadri, B Amouroux, C Mingotaud, D R Talham, S Chassaing, J-D Marty
Ionic Flash NanoPrecipitation (iFNP) was evaluated as a novel method for the synthesis of inorganic-organic hybrid nanomaterials and proved to be remarkably effective, fast and practical. To prove the potential of iFNP, various nanostructured GdPO4-based materials of biomedical imaging relevance were easily prepared in a one-step, tunable and highly controlled manner using only water as solvent.
January 11, 2017: Nanoscale
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Elodie Guerineau, Christophe Hubert, Caroline Rooryck, Marie-Laure Vuillaume, Nada Houcinat, Julie Deforges, Julie Bouron, Sylvie Devès, Martine Le Merrer, Albert David, David Geneviève, Fabienne Giuliano, Hubert Journel, André Megarbane, Laurence Faivre, Nicolas Chassaing, Christine Francannet, Elisabeth Sarrazin, Eva-Lena Stattin, Jacqueline Vigneron, Danielle Leclair, Caroline Abadie, Pierre Sarda, Clarisse Baumann, Marie-Ange Delrue, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Isabelle Coupry
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions...
August 2016: Journal of Human Genetics
Myriam Srour, Véronique Caron, Toni Pearson, Sarah B Nielsen, Sébastien Lévesque, Marie-Ange Delrue, Troy A Becker, Fadi F Hamdan, Zoha Kibar, Shannon G Sattler, Michael C Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca Okashah Littlejohn, Sofia Douzgou, André Tremblay, Jacques L Michaud
Retinoic acid (RA) signaling plays a key role in the development and function of several systems in mammals. We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia. However, the natural history of affected subjects beyond the prenatal or neonatal period was unknown. Here, we describe nine additional subjects with microphthalmia who have de novo mutations in RARB, including the previously described p...
August 2016: Human Mutation
E Quévrain, M A Maubert, C Michon, F Chain, R Marquant, J Tailhades, S Miquel, L Carlier, L G Bermúdez-Humarán, B Pigneur, O Lequin, P Kharrat, G Thomas, D Rainteau, C Aubry, N Breyner, C Afonso, S Lavielle, J-P Grill, G Chassaing, J M Chatel, G Trugnan, R Xavier, P Langella, H Sokol, P Seksik
BACKGROUND: Crohn's disease (CD)-associated dysbiosis is characterised by a loss of Faecalibacterium prausnitzii, whose culture supernatant exerts an anti-inflammatory effect both in vitro and in vivo. However, the chemical nature of the anti-inflammatory compounds has not yet been determined. METHODS: Peptidomic analysis using mass spectrometry was applied to F. prausnitzii supernatant. Anti-inflammatory effects of identified peptides were tested in vitro directly on intestinal epithelial cell lines and on cell lines transfected with a plasmid construction coding for the candidate protein encompassing these peptides...
March 2016: Gut
Feliciana Real Fernández, Margherita Di Pisa, Giada Rossi, Nicolas Auberger, Olivier Lequin, Maud Larregola, Amina Benchohra, Christelle Mansuy, Gerard Chassaing, Francesco Lolli, Joussef Hayek, Solange Lavielle, Paolo Rovero, Jean-Maurice Mallet, Anna Maria Papini
Antibody detection in autoimmune disorders, such as multiple sclerosis (MS) and Rett syndrome (RTT) can be achieved more efficiently using synthetic peptides. The previously developed synthetic antigenic probe CSF114(Glc), a type I' β-turn N-glucosylated peptide structure, is able to recognize antibodies in MS and RTT patients' sera as a sign of immune system derangement. We report herein the design, synthesis, conformational analysis, and immunological evaluation of a collection of glycopeptide analogs of CSF114(Glc) to characterize the specific role of secondary structures in MS and RTT antibody recognition...
September 2015: Biopolymers
Nicolas Auberger, Margherita Di Pisa, Maud Larregola, Gérard Chassaing, Elisa Peroni, Solange Lavielle, Anna-Maria Papini, Olivier Lequin, Jean-Maurice Mallet
The Glaser-Eglinton reaction between either two C or N propargylglycine (Pra or NPra) amino acids, in the presence of copper(II), led to cyclic hexa- and octapeptides constrained by a butadiyne bridge. The on-resin cyclization conditions were analyzed and optimized. The consequences of this type of constraint on the three dimensional structure of these hexapeptides and octapeptides were analyzed in details by NMR and molecular dynamics. We show that stabilized short cyclic peptides could be readily prepared via the Glaser oxidative coupling either with a chiral (Pra), or achiral (NPra) residue...
December 15, 2014: Bioorganic & Medicinal Chemistry
A M Valdes, I Meulenbelt, E Chassaing, N K Arden, S Bierma-Zeinstra, D Hart, A Hofman, M Karsdal, M Kloppenburg, H M Kroon, E P Slagboom, T D Spector, A G Uitterlinden, J B van Meurs, A C Bay-Jensen
OBJECTIVE: To evaluate the role of three cartilage-derived biomarkers on osteoarthritis (OA): urinary C-terminal telopeptide (uCTX-II), serum cartilage oligomeric protein (sCOMP), and serum MMP degraded type II collagen (sC2M). SUBJECTS AND METHODS: Samples from 3582 individuals from the Rotterdam Study, the Genetics osteoArthritis and Progression (GARP), the Chingford Study and the TwinsUK cohort were assayed using enzyme-linked immune sorbent assays. Log10 of concentration levels were correlated with risk of hip, hand and knee OA, hip and knee OA severity and incidence, and progression of knee OA, adjusting for age, gender and body mass index (BMI)...
May 2014: Osteoarthritis and Cartilage
S Guilbert, V Chassaing, C Radier, C Hulet, F Rémy, J Chouteau, F Chotel, P Boisrenoult, A Sebilo, P Ferrua, F P Ehkirch, D Bertin, D Dejour
INTRODUCTION: The aim of this study was to define a new index to measure lateral patellar displacement (LPD) using nuclear magnetic resonance imaging (MRI), an axial index of engagement of the patella (AEI) obtained from two different axial MRI views then to validate its use in a prospective series of patients presenting an objective patellar instability (OPI). MATERIALS AND METHODS: One hundred and thirty-five patients with OPI and no history of surgery of the patella were included in a prospective study organized by the French Society of Arthroscopy performed between June 2010 and August 2012...
December 2013: Orthopaedics & Traumatology, Surgery & Research: OTSR
Eric Durand, Didier Blanchard, Stephan Chassaing, Martine Gilard, Marc Laskar, Bogdan Borz, Antoine Lafont, Christophe Barbey, Matthieu Godin, Christophe Tron, Rachid Zegdi, Didier Chatel, Olivier Le Page, Pierre-Yves Litzler, Jean-Paul Bessou, Nicolas Danchin, Alain Cribier, Hélène Eltchaninoff
Dual antiplatelet therapy is commonly used in patients undergoing transcatheter aortic valve implantation (TAVI), but the optimal antiplatelet regimen is uncertain and remains to be determined. The objective of this study was to compare 2 strategies of antiplatelet therapy in patients undergoing TAVI. A strategy using monoantiplatelet therapy (group A, n = 164) was prospectively compared with a strategy using dual antiplatelet therapy (group B, n = 128) in 292 consecutive patients undergoing TAVI. The primary end point was a combination of mortality, major stroke, life-threatening bleeding (LTB), myocardial infarction, and major vascular complications at 30 days...
January 15, 2014: American Journal of Cardiology
O Patat, C M A van Ravenswaaij-Arts, J Tantau, N Corsten-Janssen, J P van Tintelen, T Dijkhuizen, J Kaplan, N Chassaing
Otocephaly-dysgnathia complex is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Mutations in the orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1) genes have recently been identified in some cases. We screened 4 otocephalic cases for these 2 genes and identified OTX2 mutations in 2 of them, thus confirming OTX2 is implicated in otocephaly. No PRRX1 mutation was identified. Interestingly, ocular involvement is not a constant feature in otocephalic cases with an OTX2 mutation...
September 2013: Molecular Syndromology
M Coppa, A Ferlay, C Chassaing, C Agabriel, F Glasser, Y Chilliard, G Borreani, R Barcarolo, T Baars, D Kusche, O M Harstad, J Verbič, J Golecký, B Martin
The aim of this study was to predict the fatty acid (FA) composition of bulk milk using data describing farming practices collected via on-farm surveys. The FA composition of 1,248 bulk cow milk samples and the related farming practices were collected from 20 experiments led in 10 different European countries at 44°N to 60°N latitude and sea level to 2,000 m altitude. Farming practice-based FA predictions [coefficient of determination (R(2)) >0.50] were good for C16:0, C17:0, saturated FA, polyunsaturated FA, and odd-chain FA, and very good (R(2) ≥0...
July 2013: Journal of Dairy Science
Benoit Chassaing, Gayathri Srinivasan, Maria A Delgado, Andrew N Young, Andrew T Gewirtz, Matam Vijay-Kumar
Inflammation has classically been defined histopathologically, especially by the presence of immune cell infiltrates. However, more recent studies suggest a role for "low-grade" inflammation in a variety of disorders ranging from metabolic syndrome to cancer, which is defined by modest elevations in pro-inflammatory gene expression. Consequently, there is a need for cost-effective, non-invasive biomarkers that, ideally, would have the sensitivity to detect low-grade inflammation and have a dynamic range broad enough to reflect classic robust intestinal inflammation...
2012: PloS One
Sébastien Deslandes, Delphine Lamoral-Theys, Céline Frongia, Stefan Chassaing, Céline Bruyère, Olivier Lozach, Laurent Meijer, Bernard Ducommun, Robert Kiss, Evelyne Delfourne
A series of pyrrolic analogs and two series of regioisomeric pyrazolic analogs of the marine alkaloids granulatimide and isogranulatimide were prepared. The synthesis of the two first ones was based on the condensation reaction of diversely 5-substituted 3-bromoindoles with pyrrole or pyrazole followed by addition of the intermediates on maleimide or dibromomaleimide, respectively, the so-obtained acyclic adducts being finally photocyclized to the desired analogs. Compounds of the last series were obtained by reacting different 5-substituted-indole-3-glyoxylates with N-Boc-pyrazole-3-acetamide and subsequent photochemical cyclization of the adducts...
August 2012: European Journal of Medicinal Chemistry
N Chassaing, N Ragge, A Kariminejad, A Buffet, S Ghaderi-Sohi, J Martinovic, P Calvas
PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the STRA6 gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with STRA6 mutations. To determine the minimal findings associated with STRA6 mutations, we performed mutation analysis of the STRA6 gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in PDAC and 7 had other abnormalities...
March 2013: Clinical Genetics
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