Results 311 to 320 of about 1,041,152 (399)
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
, 2012 Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde +11 moreopenalex +1 more sourceSeverity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)
Environmental and Molecular Mutagenesis, EarlyView.Abstract
Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White +17 morewiley +1 more sourceExome sequencing of UK birth cohorts. [PDF]
Wellcome Open ResKoko M, Fabian L, Popov I, Eberhardt RY, Zakharov G, Huang QQ, Wade EE, Azad R, Danecek P, Ho K, Hough A, Huang W, Lindsay SJ, Malawsky DS, Bonfanti D, Mason D, Plowman D, Quail MA, Ring SM, Shireby G, Widaa S, Fitzsimons E, Iyer V, Bann D, Timpson NJ, Wright J, Hurles ME, Martin HC. +27 moreeuropepmc +1 more sourceWhole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
, 2012 Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz +51 moreopenalex +1 more sourceA Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas [PDF]
, 2012 Sergey I. Nikolaev, Sotirios K. Sotiriou, Ioannis S. Pateras, Federico Santoni, Stavros Sougioultzis, Henrik Edgren, Henrikki Almusa, Daniel Robyr, Michel Guipponi, Janna Saarela, Vassilis G. Gorgoulis, Stylianos E. Antonarakis, Thanos D. Halazonetis +12 moreopenalex +1 more sourceCompound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures
Epilepsia Open, EarlyView.Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su +5 morewiley +1 more source
