Results 91 to 100 of about 86,476 (288)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Significance of whole-genome duplications on the emergence of evolutionary novelties

Briefings in Functional Genomics, 2018
Acquisition of evolutionary novelties is a fundamental process for adapting to the external environment and invading new niches and results in the diversification of life, which we can see in the world today. How such novel phenotypic traits are acquired in the course of evolution and are built up in developing embryos has been a central question in ...
Yuuta, Moriyama, Kazuko, Koshiba-Takeuchi   +1 more
openaire   +2 more sources

Reply to: 'Subfunctionalization versus neofunctionalization after whole-genome duplication'.

, 2018
Reply to: 'Subfunctionalization versus neofunctionalization after whole-genome duplication'
Guiguen, Yann, Yann Guiguen, Ingo Braasch, Postlethwait, John H, Julien Bobe, John H. Postlethwait, Braasch, Ingo, Bobe, Julien   +7 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Pigmentation Pathway Evolution after Whole-Genome Duplication in Fish [PDF]

Genome Biology and Evolution, 2009
Whole-genome duplications (WGDs) have occurred repeatedly in the vertebrate lineage, but their evolutionary significance for phenotypic evolution remains elusive. Here, we have investigated the impact of the fish-specific genome duplication (FSGD) on the evolution of pigmentation pathways in teleost fishes.
Braasch, Ingo, Brunet, Frédéric, Volff, Jean-Nicolas, Schartl, Manfred   +3 more
openaire   +4 more sources

Comparative Inference of Duplicated Genes Produced by Polyploidization in Soybean Genome

International Journal of Genomics, 2013
Soybean (Glycine max) is one of the most important crop plants for providing protein and oil. It is important to investigate soybean genome for its economic and scientific value. Polyploidy is a widespread and recursive phenomenon during plant evolution,
Yanmei Yang, Jinpeng Wang, Jianyong Di
doaj   +1 more source

Evolutionary history of glucose-6-phosphatase encoding genes in vertebrate lineages: towards a better understanding of the functions of multiple duplicates

BMC Genomics, 2017
Background Glucose-6-phosphate (G6pc) is a key enzyme involved in the regulation of the glucose homeostasis. The present study aims at revisiting and clarifying the evolutionary history of g6pc genes in vertebrates.
Lucie Marandel, Stéphane Panserat, Elisabeth Plagnes-Juan, Eva Arbenoits, José Luis Soengas, Julien Bobe   +5 more
doaj   +1 more source

The Grayling Genome Reveals Selection on Gene Expression Regulation after Whole-Genome Duplication

, 2018
Whole-genome duplication (WGD) has been a major evolutionary driver of increased genomic complexity in vertebrates. One such event occurred in the salmonid family ∼80 Ma (Ss4R) giving rise to a plethora of structural and regulatory duplicate-driven ...
Leif Asbjørn Vøllestad, Sissel Jentoft, Varadharajan, Srinidhi, Kjetill S Jakobsen, Sandve, Simen R., Mulugeta, Teshome D., Teshome D Mulugeta, Jakobsen, Kjetill Sigurd, Mulugeta, Teshome Dagne, Hvidsten, Torgeir R.,, Sandve, Simen Rød, Simen R Sandve, Gillard, Gareth B., Hvidsten, Torgeir R., Torgeir R Hvidsten, Gillard, Gareth Benjamin, Srinidhi Varadharajan, Ole K Tørresen, Tørresen, Ole K., Gareth B Gillard, Vøllestad, Leif Asbjørn, Jentoft, Sissel, Nederbragt, Alexander J., Alexander J Nederbragt, Jakobsen, Kjetill S., Nederbragt, Alexander Johan, Lien, Sigbjørn, Hvidsten, Torgeir Rhoden, Sigbjørn Lien   +28 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Extracting functional trends from whole genome duplication events using comparative genomics [PDF]

, 2016
Background: The number of species with completed genomes, including those with evidence for recent whole genome duplication events has exploded. The recently sequenced Atlantic salmon genome has been through two rounds of whole genome duplication since ...
Sandve, Simen Rød, Sandve, Simen Rod, Simen Rød Sandve, David A. Liberles, Hermansen, Russell A., Russell A. Hermansen, Torgeir R. Hvidsten, Hvidsten, Torgeir R., Hvidsten, Torgeir Rhoden, Liberles, David A., Hvidsten, Torgeir R.,   +10 more
core   +3 more sources