Results 211 to 220 of about 24,446 (224)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

, 2011
Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala   +8 more
openalex   +2 more sources

Cataract‐Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation

Exploration, EarlyView.
This study investigated the role of the βB2‐crystallin c.562C>T (p.R188C) mutation in congenital cataract. Clinical pedigree analysis, combined with whole‐exome sequencing (WES), identified this pathogenic variant. Bioinformatic analyses predicted destabilization of the mutant protein’s tertiary structure, potentially impairing its function.
Yibo Yu, Silong Chen, Ying Zhang, Hang Song, Jiarui Guo, Chengpeng Wu, Wei Wu, Jingjie Xu, Xiaoyu Cheng, Chenqi Luo, Jing Guo, Yip Chee Chew, Ke Yao, Xiangjun Chen, Lidan Hu   +14 more
wiley   +1 more source

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

, 2012
Erin L. Heinzen, Chantal Depondt, Gianpiero L. Cavalleri, Elizabeth K. Ruzzo, Sophie Nicole, Anna C. Need, Dongliang Ge, Min He, Elizabeth T. Cirulli, Qian Zhao, Kenneth Cronin, Curtis Gumbs, C. Ryan Campbell, Linda K. Hong, Jessica M. Maia, Kevin V. Shianna, Mark McCormack, Rodney A. Radtke, Gerard D. O'Conner, Mohamad A. Mikati, William Gallentine, Aatif M. Husain, Saurabh R. Sinha, Krishna Chinthapalli, Ram S. Puranam, James O McNamara, Ruth Ottman, Sanjay M. Sisodiya, Norman Delanty, David Goldstein   +29 more
openalex   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure, EarlyView.
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
wiley   +1 more source

Genome Editing Technologies to Improve Health‐Related Phytocompounds in Crops

Food Frontiers, EarlyView.
ABSTRACT Due to rapid global population growth and the resulting significant increase in food demand, the world is facing an epidemic of malnutrition. Although yield improvement remains one of the main targets of breeding programs, much attention is being paid to the nutritional aspects of crops, including nutrients and bioactive compounds that are ...
Maria Dellino, Claudio de Giovanni, Monica Marilena Miazzi, Cinzia Montemurro, Domenica Nigro   +4 more
wiley   +1 more source

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 more
openalex   +1 more source

Fibroblasts and hiPS‐Derived Astrocytes From CoPAN Patients Showed Different Levels of Iron Overload Correlated With Senescent Phenotype

Glia, EarlyView.
CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease. ABSTRACT COASY protein‐associated neurodegeneration (CoPAN) is a rare autosomal recessive disorder within the ...
Anna Cozzi, Paolo Santambrogio, Andrea Stefano Moro, Alessio Pelagatti, Alicia Rubio, Chiara Balestrucci, Ivano Di Meo, Valeria Tiranti, Sonia Levi   +8 more
wiley   +1 more source

Whole-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 more
openalex   +1 more source

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

, 2012
Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M. Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Çırak, Richard Williams, John C. Achermann, John Anderson, David P. Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna S. Mackay, Khalid Hussain, Jane C. Sowden, Veronica A. Kinsler, Justyna Osinska, Tony Brooks, Michael Hubank, Philip L. Beales, Elia Stupka   +29 more
openalex   +2 more sources