Results 61 to 70 of about 2,406,008 (205)

Different DNA Sequencing Using DNA Graphs: A Study

Applied Sciences, 2022
Natural genetic material may shed light on gene expression mechanisms and aid in the detection of genetic disorders. Single Nucleotide Polymorphism (SNP), small insertions and deletions (indels), and major chromosomal anomalies are all chromosomal ...
Abdulaziz M. Alanazi, G. Muhiuddin, Doha A. Al-Balawi, Sovan Samanta   +3 more
doaj   +1 more source

Impact of GATA2 gene polymorphism (rs2335052 A > G) on coronary artery disease susceptibility

Egyptian Journal of Medical Human Genetics
Background The transcription factor GATA binding protein 2 (GATA2) is essential for the gene expression profile in vascular endothelial cells. GATA2 located on 3q21, encodes a transcription factor essential for the production and differentiation of ...
Sailaja Maddhuri, Chaitanya Kumar Bhukya, Gummadi Akhil, V. Gayathri Snigdha, P. Priyanka, Amaresh Rao Malempati, Vijaya Lakshmi Bodiga   +6 more
doaj   +1 more source

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

BMC Medical Genetics, 2020
Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders.
Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ   +8 more
doaj   +1 more source

Routes for breaching and protecting genetic privacy

, 2013
We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases.
A Acquisti, A Cavoukian, A Kong, A Machanavajjhala, A Narayanan, AD Johnson, AJ Pakstis, AK Manning, AL McGuire, Arvind Narayanan, B Fons, B Malin, B Malin, BA Malin, BM Henn, C Dwork, C Shannon, CD Huff, D Clayton, D He, D Zubakov, DJ Solve, DR Nyholt, DW Craig, EA Zerhouni, EE Schadt, EM Ramos, F Liu, G Church, H Lango Allen, H Li, HK Im, HS Venter, J Burn, J Gitschier, J Kaiser, J Kaye, J Kaye, J Lee, J Marchini, JE Lunshof, JH Park, JM Oliver, JP Roberts, K Benitez, K El Emam, K El Emam, K Silventoinen, KA Tryka, KB Jacobs, KS Kendler, L Kamm, L Sweeney, L Sweeney, LA Sweeney, LA Sweeney, LAP Kohn, LL Rodriguez, M Canim, M Gymrek, M Gymrek, M Kantarcioglu, M Kayser, MD Mailman, N Chatterjee, N Homer, NN Taleb, P Bohannon, P Kwok, P Ohm, P Paillier, PM Visscher, R Braun, R Drmanac, R Khan, R Noumeir, RL Bennett, S Byers, S McClure, S Sankararaman, S Walsh, SE Brenner, SF Terry, SH Friend, T Lumley, TE King, TE King, V Bafna, W Fu, W Hartzog, WG Hill, WW Lowrance, XL Ou, Yaniv Erlich, Z Lin   +94 more
core   +1 more source

Defining Genetic Disease [PDF]

, 2014
The concept of genetic disease refers to the idea that one or more genes are the cause of disease. Under this definition, problems arise when it comes to the use of the term “cause”. Moreover, genes alone cannot explain the development of a disease; environmental causes are also at play.
openaire   +2 more sources

The RaDiCo information system for rare disease cohorts

Orphanet Journal of Rare Diseases
Background Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais, Sonia Gueguen, Annick Clement, Serge Amselem, for the RaDiCo Program   +4 more
doaj   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells, 2020
Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada   +3 more
doaj   +1 more source

Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life

Cells
Topoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
doaj   +1 more source

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources