Results 101 to 110 of about 99,978 (325)

The role of mutation rate variation and genetic diversity in the architecture of human disease [PDF]

, 2013
Background We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease.
A Hodgkinson, A Hodgkinson, A Kong, Adam Eyre-Walker, B Charlesworth, B Charlesworth, C Park, CJ Pink, CL Chen, FA Kondrashov, G McVicker, H Ellegren, H Huang, I Hellmann, I Hellmann, I. King Jordan, J Maynard Smith, JA Stamatoyannopoulos, JJ Michaelson, KH Wolfe, L Duret, MJ Lercher, MT Maurano, MW Nachman, NG Smith, R Blekhman, RS Hansen, S Tyekucheva, TI Gossmann, Ying Chen Eyre-Walker   +29 more
core   +4 more sources

The budding yeast Centromere DNA Element II wraps a stable Cse4 hemisome in either orientation in vivo

eLife, 2014
In budding yeast, a single cenH3 (Cse4) nucleosome occupies the ∼120-bp functional centromere, however conflicting structural models for the particle have been proposed. To resolve this controversy, we have applied H4S47C-anchored cleavage mapping, which
Steven Henikoff, Srinivas Ramachandran, Kristina Krassovsky, Terri D Bryson, Christine A Codomo, Kristin Brogaard, Jonathan Widom, Ji-Ping Wang, Jorja G Henikoff   +8 more
doaj   +1 more source

Distinct effects of complement C4A and C4B copy number in Systemic Sclerosis serological and clinical subtypes

Arthritis &Rheumatology, Accepted Article.
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. Variable copy number (CN) of C4 genes and retroviral HERV‐K element influence its function.
Javier Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillen‐Del‐Castillo, Carmen P Simeón‐Aznar, José L Callejas, International SSc Group; PRECISESADs Clinical Consortium, Oliver Distler, Susanna M Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E. Alarcon‐Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta‐Herrera, Martin Kerick   +23 more
wiley   +1 more source

Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]

, 2015
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R, Chan, Simon Wl, Comai, Luca, Henry, Isabelle M, Korf, Ian, Lysak, Martin A, Mandakova, Terezie, Marimuthu, Mohan Pa, Ravi, Maruthachalam, Tan, Ek Han   +9 more
core   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

The Drosophila histone variant H2A.V works in concert with HP1 to promote kinetochore-driven microtubule formation [PDF]

, 2015
Unlike other organisms that have evolved distinct H2A variants for different functions, Drosophila melanogaster has just one variant which is capable of filling many roles.
Cenci, Giovanni, Verni', Fiammetta
core   +1 more source

Impact of evolving treatment patterns on interstitial lung disease progression in systemic sclerosis using the EUSTAR database

Arthritis &Rheumatology, Accepted Article.
Background The treatment landscape for systemic sclerosis‐associated interstitial lung disease (SSc‐ILD) has evolved with increasing immunosuppressive (IST) and anti‐fibrotic therapies available. However, their real‐world use remains unclear. Objectives To analyze treatment trends and the effect of IST and anti‐fibrotic therapies on ILD progression ...
Corrado Campochiaro, Marie‐Elise Truchetet, Madelon Vonk, Giacomo De Luca, Giovanna Cuomo, Lidia P. Ananieva, Eric Hachulla, Vanessa Smith, Ana Maria Gheorghiu, Radim Becvar, Patricia Carreira, Nicolas Hunzelmann, Daniel E. Furst, Vera Ortiz‐Santamaria, Francesco Del Galdo, Marco Matucci‐Cerinic, Anna‐Maria Hoffmann‐Vold, EUSTAR collaborators   +17 more
wiley   +1 more source

Centromere DNA Dynamics: Latent Centromeres and Neocentromere Formation [PDF]

The American Journal of Human Genetics, 1997
The centromere is a vital chromosomal structure that provides all living cells with the ability to faithfully partition their genetic material during mitotic and meiotic cell divisions. It functions by holding newly replicated sister chromatids together, allowing the attachment of spindle microtubules, and orchestrating the ordered movement of ...
openaire   +2 more sources

Interaction Between Actin and Microtubules During Plant Development

Cytoskeleton, EarlyView.
ABSTRACT The dynamic interaction between actin filaments (AFs) and microtubules (MTs) plays a crucial role in regulating key developmental and physiological processes in plant cells, particularly in the formation of specialized cell types with distinct shapes and functions, such as pollen tubes, trichomes, and leaf epidermal cells.
Zining Wu, Lidong Gao, M. Arif Ashraf, Qiong Nan   +3 more
wiley   +1 more source

Securin Is Not Required for Chromosomal Stability in Human Cells [PDF]

, 2005
Abnormalities of chromosome number are frequently observed in cancers. The mechanisms regulating chromosome segregation in human cells are therefore of great interest.
Azofeifa, Bunz, Cahill, Ciosk, Cohen-Fix, Funabiki, Giménez-Abián, Gorr, Gruber, Haering, Hauf, Hauf, Huang, Jallepalli, Jürgen Cox, Katrin Pfleghaar, Losada, McGuinness, Mei, Michael R Speicher, Michor, Nasmyth, Olaf Stemmann, R. Scott Hawley, Ramos-Morales, Saez, Simone Heubes, Speicher, Stemmann, Stemmann, Uhlmann, Waizenegger, Zou   +32 more
core   +4 more sources