Results 151 to 160 of about 7,215,457 (388)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

An ILP solution for the gene duplication problem

BMC Bioinformatics, 2011
Background The gene duplication (GD) problem seeks a species tree that implies the fewest gene duplication events across a given collection of gene trees.
Fernández-Baca David F, Burleigh Gordon J, Chang Wen-Chieh, Eulenstein Oliver   +3 more
doaj   +1 more source

Gene & Genome Duplication in Acanthamoeba Polyphaga Mimivirus

, 2005
accepted for publication in "Journal of Virology"Gene duplication is key to molecular evolution in all three domains of life and may be the first step in the emergence of new gene function.
Suhre, Karsten
core   +2 more sources

Duplication of modules facilitates the evolution of functional specialization [PDF]

, 2000
The evolution of simulated robots with three different architectures is studied. We compared a non-modular feed forward network, a hardwired modular and a duplication-based modular motor control network.
Calabretta, Raffaele, Nolfi, Stefano, Parisi, Domenico, Wagner, Gunter P.   +3 more
core   +1 more source

Frequent Gene Duplication/Loss Shapes Distinct Evolutionary Patterns of NLR Genes in Arecaceae Species [PDF]

, 2021
Xiaotong Li, Guang‐Can Zhou, Xingyu Feng, Zhen Zeng, Yang Liu, Zhu‐Qing Shao   +5 more
openalex   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations [PDF]

, 2000
Sylvie Mazoyer
openalex   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Gone with the Species: From Gene Loss to Gene Extinction

Frontiers in Bioscience-Scholar
Background: Vertebrae protein-coding genes exhibit remarkable diversity and are organized into many gene families. These gene families have emerged through various gene duplication events, the most prominent being the two rounds of ...
Ammad Aslam Khan, Anees Fatima
doaj   +1 more source

Phosphorylation network rewiring by gene duplication

Molecular Systems Biology, 2011
Elucidating how complex regulatory networks have assembled during evolution requires a detailed understanding of the evolutionary dynamics that follow gene duplication events, including changes in post‐translational modifications.
Luca Freschi, Mathieu Courcelles, Pierre Thibault, Stephen W Michnick, Christian R Landry   +4 more
doaj   +1 more source