Results 91 to 100 of about 3,861,183 (367)

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

Chromosomal disorders - Karyotype indications [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
IConstitutional chromosomal disorders I-1. Incidence I-2. Etiology I-2.1 Genetic factors I-2. 1. 1. Chromosomal factors I-2. 1. 2. Genetic factors I-2. 2. Parental age I-2. 3. Environmental factors IIKaryotype indications II-1. Synopsis II-1.1 Karyotype II-1.2 Fluorescent in situ hybrization (FISH) II-2. Indications II-2.1.
Huret, JL, Dallaire, L
openaire   +3 more sources

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Marcadores ultrasonográficos como signos predictivos de cromosomopatías en el período fetal precoz

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: los estudios ecográficos se utilizan en el diagnóstico fetal precoz. Mediante marcadores ultrasonográficos se puede determinar un número importante de defectos congénitos.Objetivo: describir la utilidad de los marcadores ultrasonográficos en ...
Sandor Varela Iraola, Kenia Pérez de Zayas, Héctor Ignacio Pimentel Benítez, Maby Cruz Morales, Miosotis de Lourdes Fernández Lastre   +4 more
doaj  

A Spatially Resolved View on the Aging Substantia nigra: An Exploratory Proteomic Study

Advanced Biology, EarlyView.
Although aging is the most important risk factor for several neurodegenerative diseases, the molecular effects of physiological aging are still understudied. By applying spatially‐resolved proteomic analyses of the human substantia nigra pars compacta, alterations in vesicular trafficking and mitochondrial proteins are observed, as well as reduced ...
Britta Eggers, Maximilian Hausherr, Michel Lim, Karin Schork, Bilhan Karacora, Robin Grugel, Martin Eisenacher, Isabel Gil Aldea, Peter Riederer, Manfred Gerlach, Katrin Marcus   +10 more
wiley   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

International Journal of Medical Students, 2022
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil   +1 more
doaj  

3D Multicellular Scaffold Based Model for Advancing Bone Disorder Research

Advanced Functional Materials, EarlyView.
A scalable 3D multicellular in vitro bone model engineered by integrating osteoblasts, osteoclasts, and endothelial cells on biodegradable scaffolds. The system recapitulates key features of human bone remodeling and disease pathology. As a proof of concept, the model mimics osteogenesis imperfecta, demonstrating its potential as a physiologically ...
Gali Guterman‐Ram, Majd Machour, Janette Zavin, Roy Meretzki, Reut Lev‐Ari, Shulamit Levenberg   +5 more
wiley   +1 more source

Genetic issues in the diagnosis of dystonias [PDF]

, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +1 more source