Results 111 to 120 of about 5,302,158 (304)

The Genetic Landscape of Diamond-Blackfan Anemia

bioRxiv, 2018
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 1 in 100,000 to 200,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this genetically
J. Ulirsch, J. M. Verboon, S. Kazerounian, Michael H. Guo, D. Yuan, Leif S. Ludwig, R. Handsaker, Nour J Abdulhay, Claudia Fiorini, G. Genovese, Elaine T. Lim, A. Cheng, Beryl B. Cummings, K. Chao, A. Beggs, C. Genetti, C. Sieff, P. Newburger, Edyta Niewiadomska, M. Matysiak, A. Vlachos, J. Lipton, E. Atsidaftos, B. Glader, A. Narla, P. Gleizes, M. O’Donohue, Nathalie Montel-Lehry, D. Amor, S. Mccarroll, A. O’Donnell-Luria, N. Gupta, S. Gabriel, D. MacArthur, E. Lander, M. Lek, L. D. Da Costa, D. Nathan, A. Korostelev, R. Do, V. Sankaran, H. Gazda   +41 more
semanticscholar   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Genotator: A disease-agnostic tool for genetic annotation of disease

BMC Medical Genomics, 2010
Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies.
Jung Jae-Yoon, Tong Mark, Pivovarov Rimma, Wall Dennis P, Fusaro Vincent A, DeLuca Todd F, Tonellato Peter J   +6 more
doaj   +1 more source

GMEnzy: A Genetically Modified Enzybiotic Database

PLoS ONE, 2014
GMEs are genetically modified enzybiotics created through molecular engineering approaches to deal with the increasing problem of antibiotic resistance prevalence. We present a fully manually curated database, GMEnzy, which focuses on GMEs and their design strategies, production and purification methods, and biological activity data.
Hongyu Wu, Jinjiang Huang, Hairong Lu, Guodong Li, Qingshan Huang   +4 more
openaire   +4 more sources

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

GOVERNING GENETIC DATABASES: COLLECTION, STORAGE AND USE.

, 2007
This paper provides an introduction to a collection of five papers, published as a special symposium journal issue, under the title: "Governing Genetic Databases: Collection, Storage and Use".
Jane Kaye, Gibbons, SM, Kaye, J, Susan MC Gibbons   +3 more
core   +2 more sources

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

, 2013
International audienceLynch syndrome is an autosomal dominant disease caused by germ line heterozygous mutations mainly involving the MSH2, MLH1 and MSH6 genes that belong to the DNA MisMatch Repair (MMR) genes family.
Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Ferrari, Anthony, Buisine, Marie-Pierre, Béroud, Christophe, Fabre, Aurelie J, Olschwang, Sylviane, Grandval, Philippe, Wang, Qing   +8 more
core   +1 more source

Database tools in genetic diseases research

Genomics, 2013
The knowledge of the human genome is in continuous progression: a large number of databases have been developed to make meaningful connections among worldwide scientific discoveries. This paper reviews bioinformatics resources and database tools specialized in disseminating information regarding genetic disorders. The databases described are useful for
Bianco AM, MARCUZZI, ANNALISA, Zanin V, GIRARDELLI, MARTINA, VUCH, JOSEF, CROVELLA, SERGIO   +5 more
openaire   +4 more sources

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source