Results 101 to 110 of about 1,163,135 (344)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Geographic and Research Center Origins of Rice Resistance to Asian Planthoppers and Leafhoppers: Implications for Rice Breeding and Gene Deployment

Agronomy, 2017
This study examines aspects of virulence to resistant rice varieties among planthoppers and leafhoppers. Using a series of resistant varieties, brown planthopper, Nilaparvata lugens, virulence was assessed in seedlings and early-tillering plants at seven
Finbarr G. Horgan, Thanga Suja Srinivasan, Jagadish S. Bentur, Ram Kumar, K. Vasanta Bhanu, Preetinder Singh Sarao, Ho Van Chien, Maria Liberty P. Almazan, Carmencita C. Bernal, Angelee Fame Ramal, Jedeliza B. Ferrater, Shou-Horng Huang   +11 more
doaj   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

MIG-seq: an effective PCR-based method for genome-wide single-nucleotide polymorphism genotyping using the next-generation sequencing platform

Scientific Reports, 2015
Restriction-enzyme (RE)-based next-generation sequencing methods have revolutionized marker-assisted genetic studies; however, the use of REs has limited their widespread adoption, especially in field samples with low-quality DNA and/or small quantities ...
Y. Suyama, Y. Matsuki
semanticscholar   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

Molecular Characterization and Genotyping Study of Food Poisoning Staphylococcus aureus, Isolated from Raw Milk and Milk Products in Al-Diwaniyah, Iraq

Journal of Pure and Applied Microbiology, 2018
Staphylococcus aureus still resembles one of the primary causes of food poisoning induced specifically by milk and its products. Recent studies from neighbor countries of Iraq showed the presence of this bacterium in the milk of cattle, sheep, and goat.
Hayfaa Jumaah Hasan Alhasnawi, Basima Jasim Mohammed, Zahira A. Al-Zuhairi   +2 more
doaj   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

An extended genotyping framework for Salmonella enterica serovar Typhi, the cause of human typhoid

Nature Communications, 2016
The population of Salmonella enterica serovar Typhi (S. Typhi), the causative agent of typhoid fever, exhibits limited DNA sequence variation, which complicates efforts to rationally discriminate individual isolates.
V. Wong, S. Baker, T. Connor, D. Pickard, A. Page, J. Dave, N. Murphy, R. Holliman, A. Sefton, M. Millar, Z. Dyson, G. Dougan, K. Holt, Julian Nicholas A. Robert A. Nicholas R. Jacqueline A. Fr Parkhill Feasey Kingsley Thomson Keane Weill Le He, J. Parkhill, N. Feasey, R. Kingsley, N. Thomson, Jacqueline A. Keane, F. Weill, S. le Hello, J. Hawkey, David J. Edwards, S. Harris, Amy K. Cain, J. Hadfield, Peter J. Hart, N. T. V. Thieu, Elizabeth J. Klemm, R. Breiman, C. Watson, W. Edmunds, S. Kariuki, M. Gordon, R. Heyderman, Chinyere K. Okoro, J. Jacobs, O. Lunguya, C. Msefula, J. Chabalgoity, M. Kama, K. Jenkins, S. Dutta, F. Marks, Josefina Campos, C. Thompson, S. Obaro, C. MacLennan, C. Dolecek, K. Keddy, A. Smith, C. Parry, A. Karkey, S. Dongol, B. Basnyat, A. Arjyal, E. Mulholland, J. Campbell, M. Dufour, D. Bandaranayake, Take N. Toleafoa, Shalini Pravin Singh, M. Hatta, P. Newton, D. Dance, V. Davong, Robert S. Onsare, L. Isaia, G. Thwaites, L. Wijedoru, J. Crump, E. D. de Pinna, Satheesh Nair, E. Nilles, D. Thanh, P. Turner, S. Soeng, M. Valcanis, J. Powling, Karolina Dimovski, G. Hogg, J. Farrar, A. Mather, B. Amos   +83 more
semanticscholar   +1 more source

Genotype-environment interaction of genotypes of cocoa in Mexico

Scientific Reports
Abstract Cacao (Theobroma cacao L.) production is significantly influenced by genotype-environment interactions, which affect key agronomic traits such as yield, fruit quality, and disease resistance. Despite advances in cacao breeding, one of the main challenges remains the identification of stable, high-performing clones that can adapt to ...
Carlos Hugo Avendaño-Arrazate, Misael Martínez-Bolaños, Ana Laura Reyes-Reyes, Marco Aurelio Aragón-Magadán, Delfino Reyes-López, Fernando López-Morales   +5 more
openaire   +3 more sources

ESTIMATINON GENOTYPIC PHENOTYPIC VARIANCES FOR BARLEY GENOTYPES [PDF]

Mesopotamia Journal of Agriculture, 2013
Twenty four genotype of barley were used in addition to the local variety (black barley), according to random complete block design (R.C.B.D.) with three replications under the rainfed conditions of northern area of Iraq. The characters were studied.
openaire   +3 more sources