keyword
MENU ▼
Read by QxMD icon Read
search

Chassaing n

keyword
https://www.readbyqxmd.com/read/27193221/otopalatodigital-spectrum-disorders-refinement-of-the-phenotypic-and-mutational-spectrum
#1
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
https://www.readbyqxmd.com/read/27120018/gain-of-function-mutations-in-rarb-cause-intellectual-disability-with-progressive-motor-impairment
#2
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
https://www.readbyqxmd.com/read/26045134/identification-of-an-anti-inflammatory-protein-from-faecalibacterium-prausnitzii-a-commensal-bacterium-deficient-in-crohn-s-disease
#3
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
https://www.readbyqxmd.com/read/25973844/antibody-recognition-in-multiple-sclerosis-and-rett-syndrome-using-a-collection-of-linear-and-cyclic-n-glucosylated-antigenic-probes
#4
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
https://www.readbyqxmd.com/read/25456082/glaser-oxidative-coupling-on-peptides-stabilization-of-%C3%AE-turn-structure-via-a-1-3-butadiyne-constraint
#5
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
https://www.readbyqxmd.com/read/24576742/large-scale-meta-analysis-of-urinary-c-terminal-telopeptide-serum-cartilage-oligomeric-protein-and-matrix-metalloprotease-degraded-type-ii-collagen-and-their-role-in-prevalence-incidence-and-progression-of-osteoarthritis
#6
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
https://www.readbyqxmd.com/read/24268843/axial-mri-index-of-patellar-engagement-a-new-method-to-assess-patellar-instability
#7
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/24169016/comparison-of-two-antiplatelet-therapy-strategies-in-patients-undergoing-transcatheter-aortic-valve-implantation
#8
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/24167467/otocephaly-dysgnathia-complex-description-of-four-cases-and-confirmation-of-the-role-of-otx2
#9
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
https://www.readbyqxmd.com/read/23664341/prediction-of-bulk-milk-fatty-acid-composition-based-on-farming-practices-collected-through-on-farm-surveys
#10
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
https://www.readbyqxmd.com/read/22957064/fecal-lipocalin-2-a-sensitive-and-broadly-dynamic-non-invasive-biomarker-for-intestinal-inflammation
#11
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
https://www.readbyqxmd.com/read/22809559/synthesis-and-biological-evaluation-of-analogs-of-the-marine-alkaloids-granulatimide-and-isogranulatimide
#12
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
https://www.readbyqxmd.com/read/22686418/mutation-analysis-of-the-stra6-gene-in-isolated-and-non-isolated-anophthalmia-microphthalmia
#13
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
https://www.readbyqxmd.com/read/22182801/cellular-uptake-and-biophysical-properties-of-galactose-and-or-tryptophan-containing-cell-penetrating-peptides
#14
Pascaline Lécorché, Astrid Walrant, Fabienne Burlina, Laurence Dutot, Sandrine Sagan, Jean-Maurice Mallet, Bernard Desbat, Gérard Chassaing, Isabel D Alves, Solange Lavielle
Glycosylated cell penetrating peptides (CPPs) have been conjugated to a peptide cargo and the efficiency of cargo delivery into wild type Chinese hamster ovary (CHO) and proteoglycan deficient CHO cells has been quantified by MALDI-TOF mass spectrometry and compared to tryptophan- or alanine containing CPPs. In parallel, the behavior of these CPPs in contact with model membranes has been characterized by different biophysical techniques: Differential Scanning and Isothermal Titration Calorimetries, Imaging Ellipsometry and Attenuated Total Reflectance IR spectroscopy...
March 2012: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/21203406/mutations-in-the-lhx2-gene-are-not-a-frequent-cause-of-micro-anophthalmia
#15
Annaïck Desmaison, Adeline Vigouroux, Claudine Rieubland, Christine Peres, Patrick Calvas, Nicolas Chassaing
PURPOSE: Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6]) have been implicated mainly in isolated micro/anophthalmia but causative mutations of these genes explain less than a quarter of these developmental defects. The essential role of the LIM homeobox 2 (LHX2) transcription factor in early eye development has recently been documented...
2010: Molecular Vision
https://www.readbyqxmd.com/read/20644911/causes-for-failure-of-acl-reconstruction-and-influence-of-meniscectomies-after-revision
#16
MULTICENTER STUDY
Christophe Trojani, Abderahmane Sbihi, Patrick Djian, Jean-François Potel, Christophe Hulet, Frank Jouve, Christophe Bussière, François-Paul Ehkirch, Gilles Burdin, Frédéric Dubrana, Philippe Beaufils, Jean-Pierre Franceschi, Vincent Chassaing, Philippe Colombet, Philippe Neyret
The purpose of this multicenter retrospective study was to analyze the causes for failure of ACL reconstruction and the influence of meniscectomies after revision. This study was conducted over a 12-year period, from 1994 to 2005 with ten French orthopaedic centers participating. Assessment included the objective International Knee Documenting Committee (IKDC) 2000 scoring system evaluation. Two hundred and ninety-three patients were available for statistics. Untreated laxity, femoral and tibial tunnel malposition, impingement, failure of fixation were assessed, new traumatism and infection were recorded...
February 2011: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/20528625/accumulation-and-metabolism-of-drugs-and-cyp-probe-substrates-in-zebrafish-larvae
#17
W Alderton, S Berghmans, P Butler, H Chassaing, A Fleming, Z Golder, F Richards, I Gardner
This study examined the accumulation and metabolism of a number of drugs and commonly used probes for human cytochrome P450s (CYPs) in zebrafish larvae under conditions relevant to pharmacological and toxicological assays. Studies with cisapride, chlorpromazine, verapamil, testosterone, and dextromethorphan showed that the zebrafish larvae catalyze a range of phase 1 (oxidation, N-demethylation, O-de-ethylation, and N-dealkylation) and phase 2 (sulfation and glucuronidation) reactions. Both similarities and differences in the metabolic pathways were observed in zebrafish larvae when compared to mammals...
August 2010: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/20454204/antireflection-of-an-absorbing-substrate-by-an-absorbing-thin-film-at-normal-incidence
#18
R M Azzam, E Bu-Habib, J Casset, G Chassaing, P Gravier
An absorbing substrate of complex refractive index n(2) - jk(2) at wavelength lambda can be coated by an absorbing thin film of complex refractive index n(1) - jk(1) and thickness d to achieve zero reflection at normal incidence. For given n(2),k(2) multiple solutions (n(1),k(1),d/lambda) are found that correspond to infinitely many distinct antireflection layers. This is demonstrated for a Si substrate at two wavelengths (6328 and 4420 A). The response of these absorbing antireflection layers to changes of the angle of incidence from 0 to 45 degrees and to changes of thickness of +/-10% is also determined and compared to the limting case of a nonabsorbing antireflection layer...
February 15, 1987: Applied Optics
https://www.readbyqxmd.com/read/20236127/x-linked-and-autosomal-recessive-hypohidrotic-ectodermal-dysplasia-genotypic-dental-phenotypic-findings
#19
F Clauss, N Chassaing, A Smahi, M C Vincent, P Calvas, M Molla, H Lesot, Y Alembik, S Hadj-Rabia, C Bodemer, M C Manière, M Schmittbuhl
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes. The aim of this study was first to investigate the genotype and dental phenotype associated with HED and second, to explore possible correlations between dental features and molecular defects. A total of 27 patients from 24 unrelated families exhibiting clinical signs of HED (22 XLHED males, 5 autosomal recessive forms) were retrospectively included...
September 2010: Clinical Genetics
https://www.readbyqxmd.com/read/20222921/mutations-in-edaradd-account-for-a-small-proportion-of-hypohidrotic-ectodermal-dysplasia-cases
#20
N Chassaing, C Cluzeau, E Bal, P Guigue, M-C Vincent, G Viot, D Ginisty, A Munnich, A Smahi, P Calvas
BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases. Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF-kappaB activation by EDAR. OBJECTIVES: To determine frequency of EDARADD, TRAF6, TAB2 and TAK1 mutations in HED...
May 2010: British Journal of Dermatology
keyword
keyword
36905
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"