Results 51 to 60 of about 2,059,789 (297)

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Egyptian Journal of Medical Human Genetics, 2020
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide.
Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni   +9 more
doaj   +1 more source

Large-scale discovery of enhancers from human heart tissue. [PDF]

, 2011
Development and function of the human heart depend on the dynamic control of tissue-specific gene expression by distant-acting transcriptional enhancers.
Afzal, Veena, Akiyama, Jennifer A, Black, Brian L, Blow, Matthew J, Bristow, James, Holt, Amy, Jensen, Brian C, Kaplan, Tommy, May, Dalit, McCulley, David J, Pennacchio, Len A, Plajzer-Frick, Ingrid, Rubin, Edward M, Shoukry, Malak, Simpson, Paul C, Visel, Axel, Wright, Crystal   +16 more
core  

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Genome of the Avirulent Human-Infective Trypanosome—Trypanosoma rangeli [PDF]

, 2014
Background: Trypanosoma rangeli is a hemoflagellate protozoan parasite infecting humans and other wild and domestic mammals across Central and South America.
A Buschiazzo, AC Frasch, AC Ivens, AL Price, Alexandra Gerber, Ana Tereza Ribeiro de Vasconcelos, Arnaldo Zaha, B Li, B Roure, Björn Andersson, C Biemont, C Folgueira, CA Buscaglia, CA Buscaglia, Carlos Talavera-Lopez, CB Lira, CB Toaldo, CE Butler, Claudia Elizabeth Thompson, CP Pena, CS Peacock, D Bahia, D Bahia, D Cosentino-Gomes, D Ekanayake, D Horn, D Miranda-Saavedra, D Salmon, DA Largaespada, DA Urrea, DA Urrea, Daniella Castanheira Bartholomeu, DC Bartholomeu, DG Passos-Silva, Diana Bahia, DM Martin, Débora Denardin Lückemeyer, E Ghedin, EC Grisard, EC Grisard, Edmundo Carlos Grisard, EJ Tobie, EL Raven, Elgion Loreto, Elisa Beatriz Prestes, F Corpet, F Guhl, F Guhl, F Maia Da Silva, F Maia da Silva, F Maia da Silva, F Sievers, FB Nogueira, Fábio Mitsuo Lima, G Benson, G Wagner, GA Vallejo, GA Vallejo, GA Vallejo, Gabriela Rodrigues-Luiz, Glauber Wagner, Gustavo Adolfo Vallejo, H Castro, H Diez, H Diez, H Diez, H Ngo, H Shi, H Shi, HA Schmidt, HG van Luenen, HS Kim, I Kamileri, I Romero, J Baum, J Fonager, J Henriksson, J Jurka, JD Damasceno, JE Vasquez, Jessica C. Kissinger, JF Turrens, JH Lee, JL Affranchino, JL Parsons, José Franco da Silveira Filho, JV Bannister, K Ersfeld, K Strimmer, KA Norris, Karina Mariante Monteiro, Kevin Morris Tyler, KL Patrick, L Piacenza, L Piacenza, LF Lye, LG Almeida, LJ Cliffe, LM Freitas, Luiz Gonzaga Paula de Almeida, M Berriman, M Cabrine-Santos, M Cabrine-Santos, M Schramp, M Steindel, MA Chiurillo, MA de Sousa, Mauro Freitas Ortiz, MB Rogers, MC Elias, MC Motta, MD Pineyro, MF Amaya, MH de Moraes, MH Saier Jr, MI Cano, Miguel Angel Chiurillo, Milene Höehr de Moraes, MJ Fraser Jr, MJ Schofield, MM Kangussu-Marcolino, MP Wymann, MR Briones, MR Garcia Silva, MT Tammi, Mário Steindel, N Anez-Rojas, N Añez, N Inoue, N Saitou, NM El-Sayed, NM El-Sayed, O Franzen, O Franzen, Oberdan de Lima Cunha, P Luciano, Patrícia Hermes Stoco, R Bosotti, R Marone, RD Page, RL Barnes, Rondon Mendonça-Neto, Rosane Silva, RR Moraes Barros, RT Souza, S Cestari Idos, S Kumar, S Martinez-Calvillo, S Muller, S Schenkman, Santuza Maria Ribeiro Teixeira, SF Altschul, Silvane Maria Fonseca Murta, SJ Westenberger, SL dos Santos, SM Teixeira, SR Wilkinson, SR Wilkinson, SR Wilkinson, SS Dc-Rubin, Sérgio Schenkman, T Downing, TA Minning, TA Pitcovsky, Thais Cristine Marques Sincero, Tiago Antonio de Oliveira Mendes, Turán Peter Urmenyi, Viviane Grazielle Silva, Wanderson Duarte DaRocha, WD DaRocha, X Huang, ZC Caballero, Álvaro José Romanha   +172 more
core   +3 more sources

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Bacteria herald a new era of gene editing. [PDF]

, 2013
The demonstration that nucleases guided by bacterial RNA can disrupt human genes represents a landmark in the rapidly developing field of genome ...
Segal, David J
core  

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

The impact of rare and low-frequency genetic variants in common disease

Genome Biology, 2017
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for.
Lorenzo Bomba, Klaudia Walter, Nicole Soranzo   +2 more
doaj   +1 more source

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Genome Biology, 2020
Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations.
Arang Rhie, Brian P. Walenz, Sergey Koren, Adam M. Phillippy   +3 more
doaj   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source