LIVIVO - Search results -

Search results

Result 1 - 10 of total 26

Search options

Article ; Online: Mechanistic Details of Early Steps in Coenzyme Q Biosynthesis Pathway in Yeast.

Payet, Laurie-Anne / Leroux, Mélanie / Willison, John C / Kihara, Akio / Pelosi, Ludovic / Pierrel, Fabien

Cell chemical biology

2016 Volume 23, Issue 10, Page(s) 1241–1250

Abstract: Coenzyme Q (Q) is a redox lipid that is central for the energetic metabolism of eukaryotes. The biosynthesis of Q from the aromatic precursor 4-hydroxybenzoic acid (4-HB) is understood fairly well. However, biosynthetic details of how 4-HB is produced ... ...

Abstract	Coenzyme Q (Q) is a redox lipid that is central for the energetic metabolism of eukaryotes. The biosynthesis of Q from the aromatic precursor 4-hydroxybenzoic acid (4-HB) is understood fairly well. However, biosynthetic details of how 4-HB is produced from tyrosine remain elusive. Here, we provide key insights into this long-standing biosynthetic problem by uncovering molecular details of the first and last reactions of the pathway in the yeast Saccharomyces cerevisiae, namely the deamination of tyrosine to 4-hydroxyphenylpyruvate by Aro8 and Aro9, and the oxidation of 4-hydroxybenzaldehyde to 4-HB by Hfd1. Inactivation of the HFD1 gene in yeast resulted in Q deficiency, which was rescued by the human enzyme ALDH3A1. This suggests that a similar pathway operates in animals, including humans, and led us to propose that patients with genetically unassigned Q deficiency should be screened for mutations in aldehyde dehydrogenase genes, especially ALDH3A1.
MeSH term(s)	Aldehyde Dehydrogenase/genetics ; Aldehyde Dehydrogenase/metabolism ; Benzaldehydes/metabolism ; Biosynthetic Pathways ; Gene Deletion ; Gene Expression Regulation, Fungal ; Humans ; Oxidation-Reduction ; Parabens/metabolism ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Tyrosine/genetics ; Tyrosine/metabolism ; Ubiquinone/genetics ; Ubiquinone/metabolism
Chemical Substances	Benzaldehydes ; Parabens ; Saccharomyces cerevisiae Proteins ; Ubiquinone (1339-63-5) ; Tyrosine (42HK56048U) ; ALDH3A1 protein, human (EC 1.2.1.3) ; Aldehyde Dehydrogenase (EC 1.2.1.3) ; 4-hydroxybenzoic acid (JG8Z55Y12H) ; 4-hydroxybenzaldehyde (O1738X3Y38)
Language	English
Publishing date	2016-10-20
Publishing country	United States
Document type	Journal Article
ISSN	2451-9456
ISSN (online)	2451-9456
DOI	10.1016/j.chembiol.2016.08.008
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article: Modulation of cellular membrane properties as a potential therapeutic strategy to counter lipointoxication in obstructive pulmonary diseases.

Kadri, Linette / Ferru-Clément, Romain / Bacle, Amélie / Payet, Laurie-Anne / Cantereau, Anne / Hélye, Reynald / Becq, Frédéric / Jayle, Christophe / Vandebrouck, Clarisse / Ferreira, Thierry

Biochimica et biophysica acta. Molecular basis of disease

2018 Volume 1864, Issue 9 Pt B, Page(s) 3069–3084

Abstract: Maintaining the equilibrium between saturated and unsaturated fatty acids within membrane phospholipids (PLs) is crucial to sustain the optimal membrane biophysical properties, compatible with selective organelle-based processes. Lipointoxication is a ... ...

Abstract	Maintaining the equilibrium between saturated and unsaturated fatty acids within membrane phospholipids (PLs) is crucial to sustain the optimal membrane biophysical properties, compatible with selective organelle-based processes. Lipointoxication is a pathological condition under which saturated PLs tend to accumulate within the cell at the expense of unsaturated species, with major impacts on organelle function. Here, we show that human bronchial epithelial cells extracted from lungs of patients with Obstructive Pulmonary Diseases (OPDs), i. e. Cystic Fibrosis (CF) individuals and Smokers, display a characteristic lipointoxication signature, with excessive amounts of saturated PLs. Reconstitution of this signature in cellulo and in silico revealed that such an imbalance results in altered membrane properties and in a dramatic disorganization of the intracellular network of bronchial epithelial cells, in a process which can account for several OPD traits. Such features include Endoplasmic Reticulum-stress, constitutive IL8 secretion, bronchoconstriction and, ultimately, epithelial cell death by apoptosis. We also demonstrate that a recently-identified lipid-like molecule, which has been shown to behave as a "membrane-reshaper", counters all the lipointoxication hallmarks tested. Altogether, these insights highlight the modulation of membrane properties as a potential new strategy to heal and prevent highly detrimental symptoms associated with OPDs.
MeSH term(s)	Adult ; Aged ; Bronchi/cytology ; Cell Line ; Cell Membrane/drug effects ; Cell Membrane/metabolism ; Cell Membrane/pathology ; Computer Simulation ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/pathology ; Epithelial Cells/cytology ; Epithelial Cells/drug effects ; Epithelial Cells/metabolism ; Fatty Acids/chemistry ; Fatty Acids/metabolism ; Female ; Humans ; Male ; Mannitol/analogs & derivatives ; Mannitol/pharmacology ; Mannitol/therapeutic use ; Middle Aged ; Molecular Dynamics Simulation ; Oleic Acids/pharmacology ; Oleic Acids/therapeutic use ; Phospholipids/chemistry ; Phospholipids/metabolism ; Primary Cell Culture ; Pulmonary Disease, Chronic Obstructive/drug therapy ; Pulmonary Disease, Chronic Obstructive/pathology ; Respiratory Mucosa/cytology
Chemical Substances	Fatty Acids ; Oleic Acids ; Phospholipids ; mannide monooleate (25339-93-9) ; Mannitol (3OWL53L36A)
Language	English
Publishing date	2018-06-28
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	60-7
ISSN	1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0925-4439 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 1874-9399
ISSN (online)	1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
ISSN	0925-4439 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 1874-9399
DOI	10.1016/j.bbadis.2018.06.021
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uc I Zs.247: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Polyunsaturated phospholipids facilitate membrane deformation and fission by endocytic proteins

Pinot, Mathieu / Bruno Antonny / Bruno Goud / HÃ©lÃ¨ne Barelli / Laurie-Anne Payet / Romain Gautier / Sandra Lacas-Gervais / Sophie Pagnotta / Stefano Vanni / Thierry Ferreira

Science. 2014 Aug. 8, v. 345, no. 6197

2014

Abstract: Bending the benefits of polyunsaturates We have often heard that it is beneficial to eat polyunsaturated fatty acids. We also know that some organelles such as synaptic vesicles are extremely rich in polyunsaturated lipids. However, what polyunsaturated ... ...

Abstract	Bending the benefits of polyunsaturates We have often heard that it is beneficial to eat polyunsaturated fatty acids. We also know that some organelles such as synaptic vesicles are extremely rich in polyunsaturated lipids. However, what polyunsaturated lipids do in our body is unclear. Using cell biology, biochemical reconstitutions, and molecular dynamics, Pinot et al. show that polyunsaturated phospholipids can change the response of membranes to proteins involved in membrane curvature sensing, membrane shaping, and membrane fission. Polyunsaturated phospholipids make the plasma membrane more amenable to deformation; facilitate endocytosis; and, in reconstitution experiments, increased membrane fission by the dynamin-endophilin complex. Science , this issue p. 693
Keywords	deformation ; endocytosis ; molecular dynamics ; phospholipids ; plasma membrane ; polyunsaturated fatty acids ; proteins ; synaptic vesicles
Language	English
Dates of publication	2014-0808
Size	p. 693-697.
Publishing place	American Association for the Advancement of Science
Document type	Article
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.1255288
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 4' 46/137: Show issues
+ C 27: Show issues
Z50.00 SC01: Show issues
Z 8.9: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Cystic fibrosis bronchial epithelial cells are lipointoxicated by membrane palmitate accumulation.

Laurie-Anne Payet / Linette Kadri / Sébastien Giraud / Caroline Norez / Jean Marc Berjeaud / Christophe Jayle / Sandra Mirval / Frédéric Becq / Clarisse Vandebrouck / Thierry Ferreira

PLoS ONE, Vol 9, Iss 2, p e

2014 Volume 89044

Abstract: The F508del-CFTR mutation, responsible for Cystic Fibrosis (CF), leads to the retention of the protein in the endoplasmic reticulum (ER). The mistrafficking of this mutant form can be corrected by pharmacological chaperones, but these molecules showed ... ...

Abstract	The F508del-CFTR mutation, responsible for Cystic Fibrosis (CF), leads to the retention of the protein in the endoplasmic reticulum (ER). The mistrafficking of this mutant form can be corrected by pharmacological chaperones, but these molecules showed limitations in clinical trials. We therefore hypothesized that important factors in CF patients may have not been considered in the in vitro assays. CF has also been associated with an altered lipid homeostasis, i. e. a decrease in polyunsaturated fatty acid levels in plasma and tissues. However, the precise fatty acyl content of membrane phospholipids from human CF bronchial epithelial cells had not been studied to date. Since the saturation level of phospholipids can modulate crucial membrane properties, with potential impacts on membrane protein folding/trafficking, we analyzed this parameter for freshly isolated bronchial epithelial cells from CF patients. Interestingly, we could show that Palmitate, a saturated fatty acid, accumulates within Phosphatidylcholine (PC) in CF freshly isolated cells, in a process that could result from hypoxia. The observed PC pattern can be recapitulated in the CFBE41o(-) cell line by incubation with 100 µM Palmitate. At this concentration, Palmitate induces an ER stress, impacts calcium homeostasis and leads to a decrease in the activity of the corrected F508del-CFTR. Overall, these data suggest that bronchial epithelial cells are lipointoxicated by hypoxia-related Palmitate accumulation in CF patients. We propose that this phenomenon could be an important bottleneck for F508del-CFTR trafficking correction by pharmacological agents in clinical trials.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2014-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Lipid cell biology. Polyunsaturated phospholipids facilitate membrane deformation and fission by endocytic proteins.

Pinot, Mathieu / Vanni, Stefano / Pagnotta, Sophie / Lacas-Gervais, Sandra / Payet, Laurie-Anne / Ferreira, Thierry / Gautier, Romain / Goud, Bruno / Antonny, Bruno / Barelli, Hélène

Science (New York, N.Y.)

2014 Volume 345, Issue 6197, Page(s) 693–697

Abstract: Phospholipids (PLs) with polyunsaturated acyl chains are extremely abundant in a few specialized cellular organelles such as synaptic vesicles and photoreceptor discs, but their effect on membrane properties is poorly understood. Here, we found that ... ...

Abstract	Phospholipids (PLs) with polyunsaturated acyl chains are extremely abundant in a few specialized cellular organelles such as synaptic vesicles and photoreceptor discs, but their effect on membrane properties is poorly understood. Here, we found that polyunsaturated PLs increased the ability of dynamin and endophilin to deform and vesiculate synthetic membranes. When cells incorporated polyunsaturated fatty acids into PLs, the plasma membrane became more amenable to deformation by a pulling force and the rate of endocytosis was accelerated, in particular, under conditions in which cholesterol was limiting. Molecular dynamics simulations and biochemical measurements indicated that polyunsaturated PLs adapted their conformation to membrane curvature. Thus, by reducing the energetic cost of membrane bending and fission, polyunsaturated PLs may help to support rapid endocytosis.
MeSH term(s)	Adaptor Proteins, Signal Transducing/chemistry ; Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Cell Line, Tumor ; Cell Membrane/chemistry ; Cell Membrane/physiology ; Dynamins/chemistry ; Dynamins/metabolism ; Endocytosis ; Fatty Acids, Unsaturated/chemistry ; Fatty Acids, Unsaturated/physiology ; Humans ; Membranes, Artificial ; Mice ; Molecular Dynamics Simulation
Chemical Substances	Adaptor Proteins, Signal Transducing ; Fatty Acids, Unsaturated ; Membranes, Artificial ; endophilin A1 protein, mouse ; Dynamins (EC 3.6.5.5)
Language	English
Publishing date	2014-07-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.1255288
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 27: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 77: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Cystic fibrosis bronchial epithelial cells are lipointoxicated by membrane palmitate accumulation.

Payet, Laurie-Anne / Kadri, Linette / Giraud, Sébastien / Norez, Caroline / Berjeaud, Jean Marc / Jayle, Christophe / Mirval, Sandra / Becq, Frédéric / Vandebrouck, Clarisse / Ferreira, Thierry

PloS one

2014 Volume 9, Issue 2, Page(s) e89044

Abstract	The F508del-CFTR mutation, responsible for Cystic Fibrosis (CF), leads to the retention of the protein in the endoplasmic reticulum (ER). The mistrafficking of this mutant form can be corrected by pharmacological chaperones, but these molecules showed limitations in clinical trials. We therefore hypothesized that important factors in CF patients may have not been considered in the in vitro assays. CF has also been associated with an altered lipid homeostasis, i. e. a decrease in polyunsaturated fatty acid levels in plasma and tissues. However, the precise fatty acyl content of membrane phospholipids from human CF bronchial epithelial cells had not been studied to date. Since the saturation level of phospholipids can modulate crucial membrane properties, with potential impacts on membrane protein folding/trafficking, we analyzed this parameter for freshly isolated bronchial epithelial cells from CF patients. Interestingly, we could show that Palmitate, a saturated fatty acid, accumulates within Phosphatidylcholine (PC) in CF freshly isolated cells, in a process that could result from hypoxia. The observed PC pattern can be recapitulated in the CFBE41o(-) cell line by incubation with 100 µM Palmitate. At this concentration, Palmitate induces an ER stress, impacts calcium homeostasis and leads to a decrease in the activity of the corrected F508del-CFTR. Overall, these data suggest that bronchial epithelial cells are lipointoxicated by hypoxia-related Palmitate accumulation in CF patients. We propose that this phenomenon could be an important bottleneck for F508del-CFTR trafficking correction by pharmacological agents in clinical trials.
MeSH term(s)	Adult ; Aged ; Cell Membrane/drug effects ; Cell Membrane/metabolism ; Cells, Cultured ; Cystic Fibrosis/genetics ; Cystic Fibrosis/metabolism ; Cystic Fibrosis/pathology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Epithelial Cells/metabolism ; Epithelial Cells/pathology ; Female ; Humans ; Male ; Middle Aged ; Palmitic Acid/isolation & purification ; Palmitic Acid/metabolism ; Palmitic Acid/toxicity ; Protein Transport/drug effects ; Respiratory Mucosa/metabolism ; Respiratory Mucosa/pathology
Chemical Substances	CFTR protein, human ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; Palmitic Acid (2V16EO95H1)
Language	English
Publishing date	2014-02-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0089044
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Saturated fatty acids alter the late secretory pathway by modulating membrane properties.

Payet, Laurie-Anne / Pineau, Ludovic / Snyder, Ellen C R / Colas, Jenny / Moussa, Ahmed / Vannier, Brigitte / Bigay, Joelle / Clarhaut, Jonathan / Becq, Frédéric / Berjeaud, Jean-Marc / Vandebrouck, Clarisse / Ferreira, Thierry

Traffic (Copenhagen, Denmark)

2013 Volume 14, Issue 12, Page(s) 1228–1241

Abstract: Saturated fatty acids (SFA) have been reported to alter organelle integrity and function in many cell types, including muscle and pancreatic β-cells, adipocytes, hepatocytes and cardiomyocytes. SFA accumulation results in increased amounts of ceramides/ ... ...

Abstract	Saturated fatty acids (SFA) have been reported to alter organelle integrity and function in many cell types, including muscle and pancreatic β-cells, adipocytes, hepatocytes and cardiomyocytes. SFA accumulation results in increased amounts of ceramides/sphingolipids and saturated phospholipids (PL). In this study, using a yeast-based model that recapitulates most of the trademarks of SFA-induced lipotoxicity in mammalian cells, we demonstrate that these lipid species act at different levels of the secretory pathway. Ceramides mostly appear to modulate the induction of the unfolded protein response and the transcription of nutrient transporters destined to the cell surface. On the other hand, saturated PL, by altering membrane properties, directly impact vesicular budding at later steps in the secretory pathway, i.e. at the trans-Golgi Network level. They appear to do so by increasing lipid order within intracellular membranes which, in turn, alters the recruitment of loose lipid packing-sensing proteins, required for optimal budding, to nascent vesicles. We propose that this latter general mechanism could account for the well-documented deleterious impacts of fatty acids on the last steps of the secretory pathway in several cell types.
MeSH term(s)	Cell Membrane/metabolism ; Ceramides/metabolism ; Fatty Acids/metabolism ; Phospholipids/metabolism ; Saccharomyces cerevisiae/metabolism ; Secretory Pathway ; Transport Vesicles/metabolism ; Unfolded Protein Response ; trans-Golgi Network/metabolism
Chemical Substances	Ceramides ; Fatty Acids ; Phospholipids
Language	English
Publishing date	2013-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1483852-7
ISSN	1600-0854 ; 1398-9219
ISSN (online)	1600-0854
ISSN	1398-9219
DOI	10.1111/tra.12117
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5634: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Tran Mau-Them, Frédéric / Delanne, Julian / Denommé-Pichon, Anne-Sophie / Safraou, Hana / Bruel, Ange-Line / Vitobello, Antonio / Garde, Aurore / Nambot, Sophie / Bourgon, Nicolas / Racine, Caroline / Sorlin, Arthur / Moutton, Sébastien / Marle, Nathalie / Rousseau, Thierry / Sagot, Paul / Simon, Emmanuel / Vincent-Delorme, Catherine / Boute, Odile / Colson, Cindy /

Petit, Florence / Legendre, Marine / Naudion, Sophie / Rooryck, Caroline / Prouteau, Clément / Colin, Estelle / Guichet, Agnès / Ziegler, Alban / Bonneau, Dominique / Morel, Godelieve / Fradin, Mélanie / Lavillaureix, Alinoé / Quelin, Chloé / Pasquier, Laurent / Odent, Sylvie / Vera, Gabriella / Goldenberg, Alice / Guerrot, Anne-Marie / Brehin, Anne-Claire / Putoux, Audrey / Attia, Jocelyne / Abel, Carine / Blanchet, Patricia / Wells, Constance F / Deiller, Caroline / Nizon, Mathilde / Mercier, Sandra / Vincent, Marie / Isidor, Bertrand / Amiel, Jeanne / Dard, Rodolphe / Godin, Manon / Gruchy, Nicolas / Jeanne, Médéric / Schaeffer, Elise / Maillard, Pierre-Yves / Payet, Frédérique / Jacquemont, Marie-Line / Francannet, Christine / Sigaudy, Sabine / Bergot, Marine / Tisserant, Emilie / Ascencio, Marie-Laure / Binquet, Christine / Duffourd, Yannis / Philippe, Christophe / Faivre, Laurence / Thauvin-Robinet, Christel

Frontiers in genetics

2023 Volume 14, Page(s) 1099995

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-03-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2023.1099995
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Tisserant, Emilie / Vitobello, Antonio / Callegarin, Davide / Verdez, Simon / Bruel, Ange-Line / Aho Glele, Ludwig Serge / Sorlin, Arthur / Viora-Dupont, Eleonore / Konyukh, Marina / Marle, Nathalie / Nambot, Sophie / Moutton, Sébastien / Racine, Caroline / Garde, Aurore / Delanne, Julian / Tran-Mau-Them, Frédéric / Philippe, Christophe / Kuentz, Paul / Poulleau, Marlène /

Payet, Muriel / Poe, Charlotte / Thauvin-Robinet, Christel / Faivre, Laurence / Mosca-Boidron, Anne-Laure / Thevenon, Julien / Duffourd, Yannis / Callier, Patrick

Annals of human genetics

2022 Volume 86, Issue 4, Page(s) 171–180

Abstract: It has been estimated that Copy Number Variants (CNVs) account for 10%-20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array-CGH) represents the gold-standard for the ...

Abstract	It has been estimated that Copy Number Variants (CNVs) account for 10%-20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID). Although array comparative genomic hybridization (array-CGH) represents the gold-standard for the detection of genomic imbalances, common Agilent array-CGH 4 × 180 kb arrays fail to detect CNVs smaller than 30 kb. Whole Exome sequencing (WES) is becoming the reference application for the detection of gene variants and makes it possible also to infer genomic imbalances at single exon resolution. However, the contribution of small CNVs in DD/ID is still underinvestigated. We made use of the eXome Hidden Markov Model (XHMM) software, a tool utilized by the ExAC consortium, to detect CNVs from whole exome sequencing data, in a cohort of 200 unsolved DD/DI patients after array-CGH and WES-based single nucleotide/indel variant analyses. In five out of 200 patients (2.5%), we identified pathogenic CNV(s) smaller than 30 kb, ranging from one to six exons. They included two heterozygous deletions in TCF4 and STXBP1 and three homozygous deletions in PPT1, CLCN2, and PIGN. After reverse phenotyping, all variants were reported as causative. This study shows the interest in applying sequencing-based CNV detection, from available WES data, to reduce the diagnostic odyssey of additional patients unsolved DD/DI patients and compare the CNV-detection yield of Agilent array-CGH 4 × 180kb versus whole exome sequencing.
MeSH term(s)	Comparative Genomic Hybridization ; DNA Copy Number Variations ; Exome ; Genomics ; Humans ; Intellectual Disability/genetics ; Whole Exome Sequencing
Language	English
Publishing date	2022-02-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	333-5
ISSN	1469-1809 ; 0003-4800
ISSN (online)	1469-1809
ISSN	0003-4800
DOI	10.1111/ahg.12459
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Ub I Zs.193: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article: Acute anterior uveitis in spondyloarthritis: a monocentric study of 301 patients.

Frantz, Camelia / Portier, Agnes / Etcheto, Adrien / Monnet, Dominique / Brezin, Antoine / Roure, Fanny / Elhai, Muriel / Burki, Vincent / Fabreguet, Isabelle / Koumakis, Eugenie / Payet, Judith / Gossec, Laure / Dougados, Maxime / Molto, Anna

Clinical and experimental rheumatology

2018 Volume 37, Issue 1, Page(s) 26–31

Abstract: Objectives: To assess the cumulative incidence of uveitis in spondyloarthritis (SpA) and its associated factors and to evaluate the effect of DMARD treatment on uveitis in a real-life setting.: Methods: A cross-sectional monocentric observational ... ...

Abstract	Objectives: To assess the cumulative incidence of uveitis in spondyloarthritis (SpA) and its associated factors and to evaluate the effect of DMARD treatment on uveitis in a real-life setting. Methods: A cross-sectional monocentric observational study (COSPA) was conducted. Patients with definite SpA underwent a face-to-face interview. General data and specific data concerning uveitis were collected. Cumulative incidence of uveitis flares was estimated by Kaplan-Meier survival curves. Factors associated with uveitis were determined by Cox analysis. Treatment effectiveness was evaluated by comparing the number of uveitis flares before/after treatment using Wilcoxon test. Results: In total, 301 patients were included, 186 (61.8%) were men, with mean age and disease duration of 44.8 (±13.6) and 16.8 (±11.9) years, respectively. Among them, 82 (27.2%) had at least one uveitis flare. Prevalence of uveitis at the time of SpA diagnosis was 11.5 % (±1.9%) and increased over time to reach 39.3% (±4.1%) 20 years after diagnosis. HLA B27 positivity and heel pain were independently associated with uveitis (HR [IC 95%] = 4.5 [1.3-15.2] and 1.8 [1.1-2.9], respectively). A significant reduction in the number of uveitis before/after treatment was observed in patients treated with anti TNF monoclonal antibodies (n=27), (1.83 (±4.03) vs. 0.41 (±1.22), p=0.002), whereas it was not with etanercept (n=19), (0.44 (±0.70) and 0.79 (±1.36), p=NS). Conclusions: Prevalence of uveitis in SpA seems to increase with disease duration and seems more likely to appear with HLA B27 positivity and heel pain. Anti-TNF monoclonal antibodies seemed to be more effective in the reduction of uveitis flares.
MeSH term(s)	Adult ; Cross-Sectional Studies ; Female ; HLA-B27 Antigen ; Humans ; Male ; Spondylarthritis/epidemiology ; Tumor Necrosis Factor-alpha ; Uveitis, Anterior/epidemiology
Chemical Substances	HLA-B27 Antigen ; Tumor Necrosis Factor-alpha
Language	English
Publishing date	2018-12-19
Publishing country	Italy
Document type	Journal Article ; Observational Study
ZDB-ID	605886-3
ISSN	1593-098X ; 0392-856X
ISSN (online)	1593-098X
ISSN	0392-856X
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2002: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito