Results 111 to 120 of about 900,745 (376)

Single nucleotide polymorphisms of the fukutin gene [PDF]

Journal of Human Genetics, 2001
Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD). This indicates that one gene can cause different phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy
Henian Cao, Robert A. Hegele, Jasper Yuen   +2 more
openaire   +3 more sources

Efficient parentage assignment and pedigree reconstruction with dense single nucleotide polymorphism data.

Journal of Dairy Science, 2011
Large numbers of dairy cattle are now routinely genotyped for dense single nucleotide polymorphism (SNP) arrays for the purpose of predicting genomic estimated breeding values.
B. Hayes
semanticscholar   +1 more source

Integration of genetics into a systems model of electrocardiographic traits using humanCVD BeadChip [PDF]

, 2012
<p>Background—Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death.</p> <p>Methods and Results—In this study, 3 population-based cohorts (n=10 526) genotyped ...
Adeniran, I., Amuzu, A., Braund, P.S., Burton, P.R., Casas, J.-P., Day, I.N.M., Drenos, F., Eriksson, P., Folkersen, L., Gaunt, T.R., Hancox, J.C., Hingorani, A.D., Humphries, S.E., Kivimaki, M., Kumari, M., Lawlor, D.A., Macfarlane, P.W., Nelson, C.P., Samani, N.J., Shah, S., Talmud, P.J., Tobin, M.D., Tomaszewski, M., Whittaker, J., Zhang, H.   +24 more
core   +1 more source

Leveraging Automated Machine Learning for Environmental Data‐Driven Genetic Analysis and Genomic Prediction in Maize Hybrids

Advanced Science, EarlyView.
An automated machine learning framework integrating environmental and genomic data enhances genetic analysis and genomic prediction in maize. By leveraging dimension‐reduced environmental parameters, it reveals trait‐environment relationships and identifies genetic markers that govern phenotypic plasticity and genotype‐by‐environment interactions.
Kunhui He, Tingxi Yu, Shang Gao, Shoukun Chen, Liang Li, Xuecai Zhang, Changling Huang, Yunbi Xu, Jiankang Wang, Boddupalli M. Prasanna, Sarah Hearne, Xinhai Li, Huihui Li   +12 more
wiley   +1 more source

Cholesterol Ester Transfer Protein Taq1B Polymorphism and Its Association with Cardiovascular Risk Factors in Patients Undergoing Angiography in Yazd, Eastern Iran: A Cross-Sectional Study [PDF]

Iranian Journal of Medical Sciences
Background: Several studies assessed the relationship between the cholesterol ester transfer protein (CETP) Taq1B gene polymorphism (rs708272) with risk factors of cardiovascular diseases (CVDs). However, their findings were inconsistent.
Azam Ahmadi-Vasmehjani, Seyed Mostafa SeyedHosseini, Sayyed Saeid Khayyatzadeh, Farzan Madadizadeh, Mahta Mazaheri-Naeini, Mahdie Yavari, Zahra Darabi, Sara Beigrezaei, Marzieh Taftian, Vahid Arabi, Maryam Motallaei, Amin Salehi-Abargouei, Azadeh Nadjarzadeh   +12 more
doaj   +1 more source

Association of rs2075650 polymorphism of tomm40 gene with type 2 diabetes in Dilijan city, Iran [PDF]

مجله علوم پزشکی فیض (پیوسته), 2023
Background and Aim: The tomm40 gene encodes the Tomm40 protein, which is a translocase in the mitochondrial outer membrane. Changes in the tomm40 gene can lead to mitochondrial dysfunction. In this study, the association between rs2075650 polymorphism of
Maryam Salavatifar, Parya Ahmadzadeh Irandoust, Faranak Jamshidian   +2 more
doaj  

Whole genome single nucleotide polymorphism genotyping of Staphylococcus aureus [PDF]

arXiv, 2018
Next-generation sequencing technology enables routine detection of bacterial pathogens for clinical diagnostics and genetic research. Whole genome sequencing has been of importance in the epidemiologic analysis of bacterial pathogens. However, few whole genome sequencing-based genotyping pipelines are available for practical applications.
arxiv  

Genome sequencing of a Hevea brasiliensis for single nucleotide polymorphism discovery [PDF]

, 2013
The rubber tree (Hevea spp.), is the primary plant used in natural rubber production. Historically, the breeding of rubber trees has been based on techniques involving statistics and quantitative genetic approaches to determine the best genotypes to be ...
Cardoso-Silva, Claudio Benicio, Conson, Andre R.O., Garcia, Antonio Augusto Franco, Le Guen, Vincent, Mantello, Camilia Campos, Silva, Carla Cristina, Souza, Anete Pereira, Souza, Livia Moura, Toledo-Silva, Guilherme   +8 more
core  

Recent and Ancient Signature of Balancing Selection around the S-Locus in Arabidopsis halleri and A. lyrata [PDF]

, 2012
Balancing selection can maintain different alleles over long evolutionary times. Beyond this direct effect on the molecular targets of selection, balancing selection is also expected to increase neutral polymorphism in linked genome regions, in inverse ...
Castric, Vincent, Charlesworth, Deborah, Pauwels, Maxime, Roux, Camille, Ruggiero, Maria-Valeria, Vekemans, Xavier   +5 more
core   +3 more sources

The Super Enhancer‐Driven Long Noncoding RNA PRKCQ‐AS1 Promotes Neuroblastoma Tumorigenesis by Interacting With MSI2 Protein and Is Targetable by Small Molecule Compounds

Advanced Science, EarlyView.
PRKCQ‐AS1 is overexpressed due to transcriptional super‐enhancers. PRKCQ‐AS1 RNA forms a complex with MSI2 protein to induce BMX mRNA stabilization and overexpression, ERK protein phosphorylation and neuroblastoma cell proliferation. Compound NSC617570 blocks PRKCQ‐AS1 binding to MSI2, leading to BMX mRNA disassociation from MSI2 protein, BMX reduction,
Sujanna Mondal, Pei Y. Liu, Janith Seneviratne, Antoine De Weck, Pooja Venkat, Chelsea Mayoh, Jing Wu, Jesper Maag, Jingwei Chen, Matthew Wong, Nenad Bartonicek, Poh Khoo, Lei Jin, Louise E. Ludlow, David S. Ziegler, Toby Trahair, Pieter Mestdagh, Belamy B. Cheung, Jinyan Li, Marcel E. Dinger, Ian Street, Xu D. Zhang, Glenn M. Marshall, Tao Liu   +23 more
wiley   +1 more source