Results 51 to 60 of about 438,378 (164)

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.

PLoS ONE, 2012
Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3'UTR of HBEGF were predicted using miRWalk algorithm and followed by DNA sequencing in 103 ...
Gregory Papagregoriou, Kamil Erguler, Harsh Dweep, Konstantinos Voskarides, Panayiota Koupepidou, Yiannis Athanasiou, Alkis Pierides, Norbert Gretz, Kyriacos N Felekkis, Constantinos Deltas   +9 more
doaj   +1 more source

Phylogenetic identification of lateral genetic transfer events

BMC Evolutionary Biology, 2006
Background Lateral genetic transfer can lead to disagreements among phylogenetic trees comprising sequences from the same set of taxa. Where topological discordance is thought to have arisen through genetic transfer events, tree comparisons can be used ...
Hamilton Nicholas, Beiko Robert G
doaj   +1 more source

Guided-Mutation Genetic Algorithm for Mobile IoT Network Relay

IEEE Access
The Internet of Things (IoT) is a communication scheme which allows various objects to exchange several types of information, enabling functions such as home automation, production management, healthcare, etc.
Gyupil Kam, Kiseop Chung
doaj   +1 more source

Genetic basis of primary immunodeficiencies. Combined immunodeficiencies (review)

Каразінський імунологічний журнал
Background. Primary immunodeficiencies are a large and heterogeneous group of hereditary disorders characterized by disorders in the development, functioning or regulation of the immune system.
L.V. Bieliaieva, K.V. Vovk, L.L. Sherstiuk, O.O. Vlasenko   +3 more
doaj   +1 more source

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in context

EBioMedicine
Summary: Background: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants.
Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska   +73 more
doaj   +1 more source

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

BMC Medical Genetics, 2017
Background Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign.
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato   +5 more
doaj   +1 more source

Locations and patterns of meiotic recombination in two-generation pedigrees

BMC Medical Genetics, 2009
Background Meiotic crossovers are the major mechanism by which haplotypes are shuffled to generate genetic diversity. Previously available methods for the genome-wide, high-resolution identification of meiotic crossover sites are limited by the laborious
Roberson Elisha DO, Ting Jason C, Currier Duane G, Pevsner Jonathan   +3 more
doaj   +1 more source

Efficient path-based computations on pedigree graphs with compact encodings

BMC Bioinformatics, 2012
A pedigree is a diagram of family relationships, and it is often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases.
Yang Lei, Cheng En, Özsoyoğlu Z Meral
doaj   +1 more source

Prioritizing JUnit Test Cases Without Coverage Information: An Optimization Heuristics Based Approach

IEEE Access, 2019
Regression testing is an expensive activity and Test Case Prioritization (TCP) acts as an improvement mechanism for it. TCP techniques for object oriented programs need attention and in our study, we explored prioritization of JUnit test cases.
R. Mukherjee, K. S. Patnaik
doaj   +1 more source

Genomic Analysis of Reproductive Trait Divergence in Duroc and Yorkshire Pigs: A Comparison of Mixed Models and Selective Sweep Detection

Veterinary Sciences
This study aimed to investigate population genetic differences related to reproductive traits between Duroc and Yorkshire (Dutch Large White) pigs using two approaches: linear mixed models that dissect additive and dominant effects, and selective sweep ...
Changyi Chen, Yu He, Juan Ke, Xiaoran Zhang, Junwen Fei, Boxing Sun, Hao Sun, Chunyan Bai   +7 more
doaj   +1 more source