5 results on '"Tien D. Luu"'
Search Results
2. Sensitivity of flame structure and flame speed in numerical simulations of laminar aluminum dust counterflow flames
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Jiarui Zhang, Zhixun Xia, Likun Ma, Oliver T. Stein, Yunchao Feng, Tien D. Luu, and Andreas Kronenburg
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Fuel Technology ,General Chemical Engineering ,General Physics and Astronomy ,Energy Engineering and Power Technology ,General Chemistry - Published
- 2022
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- View/download PDF
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3. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
- Author
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Jean-Paul Saraiva, Kinga M. Bujakowska, Hélène Dollfus, Florian Sennlaub, Shomi S. Bhattacharya, Hoan Nguyen, José-Alain Sahel, Tien D. Luu, Isabelle Audo, Marie-Elise Lancelot, Olivier Poch, Saddek Mohand-Said, Thierry Léveillard, Christelle Michiels, Aline Antonio, Mélanie Letexier, Elise Orhan, Xavier Guillonneau, Michel Paques, Christina Zeitz, Olivier Goureau, Said El Shamieh, Institut des Maladies Rares (France), Retina France, Fondation Voir et Entendre, Foundation Fighting Blindness, and Agence Nationale de la Recherche (France) more...
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Male ,Candidate gene ,Genotype ,Mutation, Missense ,Biology ,Retina ,Amyloid beta-Protein Precursor ,Retinal Dystrophies ,Genetics ,medicine ,Humans ,Integral membrane protein 2B ,Exome ,education ,Molecular Biology ,Genetic Association Studies ,Genetics (clinical) ,Exome sequencing ,Adaptor Proteins, Signal Transducing ,Aged ,education.field_of_study ,Membrane Glycoproteins ,Genetic heterogeneity ,Sequence Analysis, DNA ,General Medicine ,Middle Aged ,Phenotype ,medicine.anatomical_structure ,Dementia ,Female ,Candidate Disease Gene - Abstract
Audo, Isabelle et al., Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders for which a significant number of cases remain genetically unresolved. Increasing knowledge on underlying pathogenic mechanisms with precise phenotype-genotype correlation is, however, critical for establishing novel therapeutic interventions for these yet incurable neurodegenerative conditions. We report phenotypic and genetic characterization of a large family presenting an unusual autosomal dominant retinal dystrophy. Phenotypic characterization revealed a retinopathy dominated by inner retinal dysfunction and ganglion cell abnormalities. Whole-exome sequencing identified a missense variant (c.782A>C, p.Glu261Ala) in ITM2B coding for Integral Membrane Protein 2B, which co-segregates with the disease in this large family and lies within the 24.6 Mb interval identified by microsatellite haplotyping. The physiological role of ITM2B remains unclear and has never been investigated in the retina. RNA in situ hybridization reveals Itm2b mRNA in inner nuclear and ganglion cell layers within the retina, with immunostaining demonstrating the presence of the corresponding protein in the same layers. Furthermore, ITM2B in the retina co-localizes with its known interacting partner in cerebral tissue, the amyloid ß precursor protein, critical in Alzheimer disease physiopathology. Interestingly, two distinct ITM2B mutations, both resulting in a longer protein product, had already been reported in two large autosomal dominant families with Alzheimer-like dementia but never in subjects with isolated retinal diseases. These findings should better define pathogenic mechanism(s) associated with ITM2B mutations underlying dementia or retinal disease and add a new candidate to the list of genes involved in inherited retinal dystrophies., The project was supported by GIS-maladies rares (C.Z.), Retina France (part of the 100-Exome Project) (I.A., J.-A.S. and C.Z.), Foundation Voir et Entendre (C.Z.), Foundation Fighting Blindness (FFB) grant CD-CL-0808-0466-CHNO (I.A. and the CIC503, recognized as an FFB centre), FFB grant C-CMM-0907-0428-INSERM04, Ville de Paris and Region Ile de France and by the French State programme ‘Investissements d’Avenir’ managed by the Agence Nationale de la Recherche (LIFESENSES: ANR-10-LABX-65) more...
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- 2013
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4. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
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Béatrice Bocquet, Hoan Nguyen, Odile Lecompte, Sharon B. Schwartz, José-Alain Sahel, Marion Neuillé, Jean-Paul Saraiva, Isabelle Audo, Samuel G. Jacobson, Olivier Poch, Kinga M. Bujakowska, Elise Orhan, Marie-Elise Lancelot, Tien D. Luu, Aline Antonio, Hélène Dollfus, Florian Sennlaub, Christelle Michiels, Shomi S. Bhattacharya, Claire Audier, Christian P. Hamel, Mélanie Letexier, Christina Zeitz, Susanne Kohl, and Xavier Zanlonghi more...
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Male ,genetic structures ,Nonsense mutation ,Biology ,Retina ,Night Blindness ,Report ,Retinitis pigmentosa ,medicine ,Myopia ,Genetics ,Missense mutation ,Humans ,Exome ,Genetics(clinical) ,Genetics (clinical) ,TRPM1 ,Exome sequencing ,Congenital stationary night blindness ,Polymorphism, Genetic ,Membrane Proteins ,Eye Diseases, Hereditary ,Genetic Diseases, X-Linked ,Middle Aged ,medicine.disease ,eye diseases ,Mutation ,Female ,sense organs ,Erg - Abstract
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. Individuals with cCSNB have visual impairment under low-light conditions and show a characteristic electroretinogram (ERG). The b-wave amplitude is severely reduced in the dark-adapted state of the ERG, representing abnormal function of ON bipolar cells. Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform. The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far. Whole-exome sequencing in one simplex cCSNB case lacking mutations in the known genes led to the identification of a missense mutation (c.983GA [p.Cys328Tyr]) and a nonsense mutation (c.1318CT [p.Arg440(∗)]) in LRIT3, encoding leucine-rich-repeat (LRR), immunoglobulin-like, and transmembrane-domain 3 (LRIT3). Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151CG [p.Ser384(∗)]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs(∗)59]) in the same gene. Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB. The exact role of this LRR protein in cCSNB remains to be elucidated. more...
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- 2013
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5. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
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Aurore Germain, Veselina Moskova-Doumanova, Guylène Le Meur, Francis L. Munier, Christina Zeitz, Kim T. Nguyen-Ba-Charvet, Jean-Paul Saraiva, Bernd Wissinger, Hoan Nguyen, Eberhart Zrenner, Elise Orhan, Samuel G. Jacobson, Aline Antonio, Daniel F. Schorderet, Agnes B. Renner, Susanne Kohl, Wolfgang Berger, Sabine Defoort-Dhellemmes, Christian P. Hamel, Dror Sharon, Françoise Meire, Katrina Prescott, Bart P. Leroy, Dominique Bonneau, Ian Simmons, Ulrich Kellner, Hélène Dollfus, Thierry Léveillard, Xavier Zanlonghi, Christelle Michiels, Olivier Poch, Odile Lecompte, Robert K. Koenekoop, Isabelle Drumare, Marie-Elise Lancelot, Thomy de Ravel, Birgit Lorenz, Vernon Long, Christoph Friedburg, Markus N. Preising, Tien D. Luu, Mélanie Letexier, Eyal Banin, Elfride De Baere, Kinga M. Bujakowska, José-Alain Sahel, Charlotte M. Poloschek, Isabelle Audo, Claire Audier, Shomi S. Bhattacharya, Ingele Casteels, Saddek Mohand-Said, Institut des Maladies Rares (France), Retina France, Fondation Voir et Entendre, Agence Nationale de la Recherche (France), Foundation Fighting Blindness, Région Ile-de-France, Association Française contre les Myopathies, National Institutes of Health (US), University of Zurich, Zeitz, Christina, Clinical sciences, and Medical Genetics more...
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Gamma-Subunit ,Male ,Electroretinography/methods ,Genotyping Techniques ,Phenotypic Impact ,Receptors, Metabotropic Glutamate ,Receptors, G-Protein-Coupled ,11124 Institute of Medical Molecular Genetics ,0302 clinical medicine ,Cone dystrophy ,Night Blindness ,Myopia ,Missense mutation ,Genetics(clinical) ,Cone Dystrophy ,Exome ,Genetics (clinical) ,Exome sequencing ,Sanger sequencing ,Congenital stationary night blindness ,Genetics ,0303 health sciences ,Muscular-Dystrophy ,Channel Subunit ,Bipolar Cells ,Homozygote ,Genotyping Techniques/methods ,Receptors, Metabotropic Glutamate/genetics ,Eye Diseases, Hereditary ,Genetic Diseases, X-Linked ,3. Good health ,Phenotype ,Mouse Retina ,symbols ,Proteoglycans ,Female ,Erratum ,Myopia/genetics ,Heterozygote ,2716 Genetics (clinical) ,mice ,TRPM Cation Channels ,610 Medicine & health ,Biology ,Night Blindness/genetics ,Polymorphism, Single Nucleotide ,Retina ,Frameshift mutation ,Genetic Heterogeneity ,03 medical and health sciences ,symbols.namesake ,1311 Genetics ,Report ,Electroretinography ,medicine ,Animals ,Humans ,Alleles ,TRPM1 ,030304 developmental biology ,Retina/abnormalities ,Protein ,medicine.disease ,Protein Structure, Tertiary ,Proteoglycans/genetics ,Cgmp-Phosphodiesterase ,Complete Form ,TRPM Cation Channels/genetics ,030221 ophthalmology & optometry ,570 Life sciences ,biology ,sense organs ,mutation ,Receptors, G-Protein-Coupled/genetics ,exome ,030217 neurology & neurosurgery - Abstract
Audo, Isabelle, et al., Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of the affected signaling pathway. Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response and have been seen in patients with cCSNB. Whole-exome sequencing in cCSNB patients lacking mutations in the known genes led to the identification of a homozygous missense mutation (c.1807C>T [p.His603Tyr]) in one consanguineous autosomal-recessive cCSNB family and a homozygous frameshift mutation in GPR179 (c.278delC [p.Pro93Glnfs57]) in a simplex male cCSNB patient. Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. Although, immunhistological studies revealed Gpr179 in the OPL in wild-type mouse retina, Gpr179 did not colocalize with specific ON-bipolar markers. Interestingly, Gpr179 was highly concentrated in horizontal cells and Müller cell endfeet. The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated., The project was supported by GIS-maladies rares (C.Z.), Retina France ([part of the 100-Exome Project] I.A., C.P.H., J.-A.S., H.D. and C.Z.), Foundation Voir et Entendre (C.Z.), Agence National de la Recherche (S.S.B), Foundation Fighting Blindness (FFB) grant CD-CL-0808-0466-CHNO (I.A. and the CIC503, recognized as an FFB center), FFB grant C-CMM-0907-0428-INSERM04, Ville de Paris and Région Ille de France, the French Association against Myopathy (AFM) grant KBM-14390 (O.P.), and National Institutes of Health grant 1R01EY020902-01A1 (K.B.). more...
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- 2012
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