Results 121 to 130 of about 36,869 (295)

Chromosomal Studies In Individuals With Infertility

Revista Cubana de Investigaciones Biomédicas, 2019
Objective: To determine the chromosomal constitution of infertile individuals. Methodology: A cross-sectional descriptive study was carried out based on the results of the karyotypes in peripheral blood in infertile individuals.
Maria Elena de la Torre Santos, Manuela Herrera Martinez, Ana Esther Algora Hernandez, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodriguez Conde, Estrella Reyes Hernandez, Carolina Machado de la Torre, Daniel Gonzalez Benitez   +9 more
doaj  

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

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

Arthritis &Rheumatology, Accepted Article.
Abstract. Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and post‐transcriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron ...
Luz P. Blanco, Binod Regmi, Carmelo Carmona‐Rivera, Yudong Liu, Xiantao Wang, Philip M. Carlucci, Monica M. Jackson, Zerai Manna, Sarfaraz Hasni, Markus Hafner, Hong‐Wei Sun, Mariana J. Kaplan   +11 more
wiley   +1 more source

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome

Autism Research, EarlyView.
ABSTRACT Fragile X Syndrome (FXS), an X‐linked genetic condition, is associated with a wide range of phenotypic manifestations, namely intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and atypical behaviors.
Mélodie Proteau‐Lemieux, Inga S. Knoth, Saeideh Davoudi, Rae Buckser, Charles‐Olivier Martin, Anne‐Marie Bélanger, Valérie K. Fontaine, Hazel Maridith Barlahan Biag, Leonard Abbeduto, Sébastien Jacquemont, David Hessl, Randi J. Hagerman, Andrea Schneider, François V. Bolduc, Sarah Lippé   +14 more
wiley   +1 more source

Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective

Chronic Diseases and Translational Medicine, EarlyView.
ABSTRACT The liver is increasingly recognized as a major regulator of systemic cardio‐renal‐metabolic health. Evidence is mounting that sex‐chromosome dosage per se itself, independent of gonadal sex hormones, modulates hepatic physiology and liver disease risk.
Mohamad Jamalinia, Amedeo Lonardo, Ralf Weiskirchen   +2 more
wiley   +1 more source

A survey on the possibility of utilizing γH2AX as a biodosimeter in radiation workers [PDF]

, 2015
Introduction DNA damage is among the main consequences of radiation. Of many different classes of DNA damage, double-strand breaks are the most deleterious.
Asadi, J., Khoshnazar, A.K., Mir, M., Yazdani, Y.   +3 more
core  

In Vitro Live Cell Imaging Reveals Nuclear Dynamics and Role of the Cytoskeleton During Asymmetric Division of Pollen Mitosis I in Nicotiana Benthamiana

Cytoskeleton, EarlyView.
ABSTRACT Pollen is a male gametophyte of angiosperms. Following meiosis, the microspore undergoes an asymmetric division called pollen mitosis I (PMI), which produces two cells of different sizes: a large vegetative cell and a small generative cell. Polarized nuclear migration and positioning during PMI are important for successful pollen development ...
Yoko Mizuta, Masako Igarashi, Tomomi Shinagawa, Ikuma Kaneshiro, Haoto Anan, Daisuke Kurihara   +5 more
wiley   +1 more source

Joint segmentation of many aCGH profiles using fast group LARS

, 2009
Array-Based Comparative Genomic Hybridization (aCGH) is a method used to search for genomic regions with copy numbers variations. For a given aCGH profile, one challenge is to accurately segment it into regions of constant copy number.
Bleakley, Kevin, Vert, Jean-Philippe
core   +1 more source

A Rejection Principle for Sequential Tests of Multiple Hypotheses Controlling Familywise Error Rates [PDF]

, 2015
We present a unifying approach to multiple testing procedures for sequential (or streaming) data by giving sufficient conditions for a sequential multiple testing procedure to control the familywise error rate (FWER), extending to the sequential domain ...
Bartroff, Jay, Song, Jinlin
core   +1 more source

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source