Results 71 to 80 of about 305,994 (296)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Chromosome architecture constrains horizontal gene transfer in bacteria.

PLoS Genetics, 2018
Despite significant frequencies of lateral gene transfer between species, higher taxonomic groups of bacteria show ecological and phenotypic cohesion. This suggests that barriers prevent panmictic dissemination of genes via lateral gene transfer. We have
Heather L Hendrickson, Dominique Barbeau, Robin Ceschin, Jeffrey G Lawrence   +3 more
doaj   +1 more source

Horizontal transfer, not duplication, drives the expansion of protein families in prokaryotes. [PDF]

PLoS Genetics, 2011
Gene duplication followed by neo- or sub-functionalization deeply impacts the evolution of protein families and is regarded as the main source of adaptive functional novelty in eukaryotes.
Todd J Treangen, Eduardo P C Rocha
doaj   +1 more source

Horizontal gene transfer is a significant driver of gene innovation in dinoflagellates [PDF]

, 2013
© The Author(s), 2013. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Genome Biology and Evolution 5 (2013): 2368-2381, doi:10.1093/gbe/evt179.The dinoflagellates are an ...
Brosnahan, Michael L., Hackett, Jeremiah D., Wisecaver, Jennifer H.   +2 more
core   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

nec1, a Gene Conferring a Necrogenic Phenotype, Is Conserved in Plant-Pathogenic Streptomyces spp. and Linked to a Transposase Pseudogene

Molecular Plant-Microbe Interactions, 1998
We are investigating the genetic basis for, and evolution of, plant pathogenicity in Streptomyces spp. The plant-pathogenic species S. scabies, S. acidiscabies, and S.
Raghida A. Bukhalid, Soo Young Chung, Rosemary Loria   +2 more
doaj   +1 more source

Phage mediated horizontal transfer of the sopE1 gene increases enteropathogenicity of Salmonella enterica serotype Typhimurium for calves [PDF]

, 2017
Epidemiological evidence shows that the sopE1 gene is associated with Salmonella Typhimurium phage types causing epidemics in cattle. In this study we demonstrate that horizontal transfer of the sopE1 gene by lysogenic conversion with the SopEΦ increased
Adams, L. Garry, Bäumler, Andreas J., Hardt, Wolf-Dietrich, Mirold, Susanne, Santos, Renato L., Tsolis, Renée M., Zhang, Shuping   +6 more
core  

Effective use of a horizontally-transferred pathway for dichloromethane catabolism requires post–transfer refinement [PDF]

, 2015
When microbes acquire new abilities through horizontal gene transfer, the genes and pathways must function under conditions with which they did not coevolve.
Bringel, Françoise, Camargo Neves, Aline A, Marx, Christopher J, Michener, Joshua K, Vuilleumier, Stéphane   +4 more
core   +1 more source

Detecting Highways of Horizontal Gene Transfer [PDF]

Journal of Computational Biology, 2011
In a horizontal gene transfer (HGT) event, a gene is transferred between two species that do not have an ancestor-descendant relationship. Typically, no more than a few genes are horizontally transferred between any two species. However, several studies identified pairs of species between which many different genes were horizontally transferred. Such a
Bansal, Mukul S., Banay, Guy, Gogarten, J. Peter, Shamir, Ron   +3 more
openaire   +3 more sources

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi, Julian E. Alecu, Darius Ebrahimi‐Fakhari   +11 more
wiley   +1 more source