Results 91 to 100 of about 70,210 (273)

Diversity in parasitic nematode genomes: the microRNAs of Brugia pahangi and Haemonchus contortus are largely novel [PDF]

, 2012
<b>BACKGROUND:</b> MicroRNAs (miRNAs) play key roles in regulating post-transcriptional gene expression and are essential for development in the free-living nematode Caenorhabditis elegans and in higher organisms.
Winter, A.D., Weir, W., Hunt Martin, Gilleard, J.S., Berriman, M., Devaney, E., Collette Britton, Alan D Winter, Gilleard John S, Britton Collette, Winter Alan D, Martin Hunt, Hunt, M., Devaney Eileen, Britton, C., Matthew Berriman, Eileen Devaney, John S Gilleard, Weir William, Berriman Matthew, William Weir   +20 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Genetic risk variants in intestinal inflammatory disorders

, 2010
PhDThis thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to
Dubois, Patrick Charles Alexander
core  

MOESM3 of Genetic polymorphism of the N-terminal region in circumsporozoite surface protein of Plasmodium falciparum field isolates from Sudan

, 2019
Additional file 3. The global N-terminal regions of the published pfcsp sequences listed by country of Isolation.
Mohamed, Nouh, Ali Albsheer, Musab, Abdelbagi, Hanadi, Siddig, Emanuel, Mohamed, Mona, Ahmed, Abdallah, Omer, Rihab, Muneer, Mohamed, Ahmed, Ayman, Osman, Hussam, Ali, Mohamed, Eisa, Ibrahim, Elbasheir, Mohamed   +12 more
openaire   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

A first genome assembly of the barley fungal pathogen Pyrenophora teres f. teres

, 2011
Background: Pyrenophora teres f. teres is a necrotrophic fungal pathogen and the cause of one of barley's most important diseases, net form of net blotch.
Ellwood, S.R., Syme, R.A., Liu, Z.H., Friesen, T.L., Moffat, C.S., Oliver, R.P., Keiper, F., Lai, Z.B., Hane, J.K.   +8 more
core  

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

An investigation of the potential for epigenetic inactivation by transcription read-through in a sporadic colorectal cancer

, 2016
© 2016 Elsevier B.V. Aberrant transcription read-through of a gene promoter as a result of genetic structural rearrangements can cause the epigenetic inactivation of a neighbouring gene.
Hesson, Luke B., Wong, Jason W.H., Ludwig, Anne K., Srivastava, Sameer   +3 more
core   +1 more source

MOESM1 of Genetic polymorphism of the N-terminal region in circumsporozoite surface protein of Plasmodium falciparum field isolates from Sudan

, 2019
Additional file 1: Table S1. Descriptive, clinical data of the patients and results of nested PCR genotyping. Table S2. Merozoite Surface Protein-1 (msp1) genotyping results.
Mohamed, Nouh, Ali Albsheer, Musab, Abdelbagi, Hanadi, Siddig, Emanuel, Mohamed, Mona, Ahmed, Abdallah, Omer, Rihab, Muneer, Mohamed, Ahmed, Ayman, Osman, Hussam, Ali, Mohamed, Eisa, Ibrahim, Elbasheir, Mohamed   +12 more
openaire   +1 more source

Karl Popper and the Mechanisms of Hydrogen Embrittlement

Advanced Engineering Materials, EarlyView.
Representation of the beginning of loss of ductility rather than embrittlement. Small concentrations of hydrogen in a diffusible form within iron are well‐established to harm the mechanical integrity of steels. There are theories that attempt to explain the pernicious role of hydrogen.
H. K. D. H. Bhadeshia
wiley   +1 more source