Results 91 to 100 of about 499,359 (306)

Replication of a genome-wide association study on essential hypertension in Mongolians

Clinical and Experimental Hypertension, 2018
Replication of genome-wide significant association SNPs in independent populations is an essential approach for identifying gene–disease relationships.
Hongmei Li, Tong Wu, Shaoqing Wang, Xueyan Li, Yongqiang Qiu, Chunrong Lin, Changchun Qiu, Zhihui Deng, Li Zhou, Xiaojie Zhang   +9 more
doaj   +1 more source

dbNSFP: A Lightweight Database of Human Non-synonymous SNPs and Their Functional Predictions

Human Mutation, 2011
With the advance of sequencing technologies, whole exome sequencing has increasingly been used to identify mutations that cause human diseases, especially rare Mendelian diseases.
Xiaoming Liu, X. Jian, E. Boerwinkle
semanticscholar   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

A novel locus in CSMD1 gene is associated with increased susceptibility to severe malaria in Malian children

Frontiers in Genetics
BackgroundPlasmodium falciparum malaria is still a leading cause of child mortality in sub-Saharan Africa. The clinical manifestations of malaria range from asymptomatic infection to severe disease.
Delesa Damena, Amadou Barry, Robert Morrison, Santara Gaoussou, Almahamoudou Mahamar, Oumar Attaher, Djibrilla Issiaka, Yahia Dicko, Alassane Dicko, Patrick Duffy, Michal Fried   +10 more
doaj   +1 more source

SIGNIFICANCE OF SINGLE-NUCLEOTIDE POLYMORPHISMS 2578C>A AND +936C>T IN THE VEGF GENE FOR EFFICIENCY EVALUAT ION OF ANTICANCER IMMUNOTHERAPY IN PAT IENTS WITH METASTAT IC SKIN MELANOMA

Медицинская иммунология, 2014
. Increased VEGF levels in cancer patients may be associated with decreased number of dendritic cells (DCs) and lower DC function. We investigated whether VEGF gene polymorphisms -2578C>A (rs699947) and +936C>T (rs3025039) are associated with ...
Yu. A. Khochenkova, G. Z. Chkadua, I. V. Samoylenko, T. F. Malivanova, I. N. Mikhailova, L. V. Demidov, E. V. Stepanova   +6 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Developing Single Nucleotide Polymorphisms for Identification of Cod Products by RAD-Seq

Animals, 2020
The increase in the rate of seafood fraud, particularly in the expensive fishes, forces us to verify the identity of marine products. Meanwhile, the definition of cod lacks consistency at the international level, as few standards and effective ...
Shoujia Jiang, Xingyu Ma, Tao Li, Changqing Zhu, Xinxin You   +4 more
doaj   +1 more source

SNP-Seek database of SNPs derived from 3000 rice genomes

Nucleic Acids Res., 2014
We have identified about 20 million rice SNPs by aligning reads from the 3000 rice genomes project with the Nipponbare genome. The SNPs and allele information are organized into a SNP-Seek system (http://www.oryzasnp.org/iric-portal/), which consists of ...
N. Alexandrov, S. Tai, Wensheng Wang, Locedie Mansueto, Kevin Palis, R. R. Fuentes, V. J. Ulat, D. Chebotarov, Gengyun Zhang, Zhikang Li, R. Mauleon, R. Hamilton, Kenneth L. McNally   +12 more
semanticscholar   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source