Results 61 to 70 of about 249,399 (261)

Uninformative polymorphisms bias genome scans for signatures of selection [PDF]

, 2012
With the establishment of high-throughput sequencing technologies and new methods for rapid and extensive single nucleotide (SNP) discovery, marker-based genome scans in search of signatures of divergent selection between populations occupying ...
Daniel Berner, Roesti Marius, Berner Daniel, Marius Roesti, Salzburger Walter, Walter Salzburger, Salzburger, Walter, Berner, Daniel, Roesti, Marius, Salzburger W, Roesti M, Berner D   +11 more
core   +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

Whole-Genome Sequence Accuracy Is Improved by Replication in a Population of Mutagenized Sorghum

G3: Genes, Genomes, Genetics, 2018
The accurate detection of induced mutations is critical for both forward and reverse genetics studies. Experimental chemical mutagenesis induces relatively few single base changes per individual.
Charles Addo-Quaye, Mitch Tuinstra, Nicola Carraro, Clifford Weil, Brian P. Dilkes   +4 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

Tandem repeat copy-number variation in protein-coding regions of human genes [PDF]

, 2005
BACKGROUND: Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease.
O'Dushlaine, Colm T., Edwards, Richard, Park, Stephen D., Richard J Edwards, Colm T O'Dushlaine, Denis C Shields, Shields, Denis C., Stephen D Park   +7 more
core   +1 more source

The Expression Levels of TREX1 and IFN-α Are Associated with Immune Reconstitution in HIV-1-Infected Individuals

Viruses
TREX1 acts in the initial prevention of an autoimmune response, but it may contribute to the permissiveness of retrovirus infections. This study investigated the association between the levels of TREX1 gene expression with the polymorphisms TREX1 ...
Maria Alice Freitas Queiroz, Allysson Quintino Tenório de Oliveira, Tuane Carolina Ferreira Moura, Wandrey Roberto dos Santos Brito, Emmanuelle Giuliana Mendes Santana, Lorena Leticia Peixoto de Lima, Felipe Teixeira Lopes, Carlos David Araújo Bichara, Ednelza da Silva Graça Amoras, Ricardo Ishak, Izaura Maria Vieira Cayres Vallinoto, Antonio Carlos Rosário Vallinoto   +11 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis [PDF]

, 2005
The MDR1 gene encodes P-glycoprotein 170, an efflux transporter that is highly expressed in intestinal epithelial cells. The MDR1 exonic single nucleotide polymorphisms (SNPs) C3435T and G2677T have been shown to correlate with activity/expression of P ...
Mowat, Craig, Tenesa, Albert, Arnott, Ian D, Mowat, Craig; id_orcid, Satsangi, Jack, Nimmo, Elaine R, Fennell, Janice, Nimmo, Elaine R., Arnott, Ian D., Ho, Gwo-Tzer, Drummond, Hazel   +10 more
core   +1 more source

Association of BsmI Polymorphisms in the Vitamin D Receptor Gene Among Indonesian Population with Diabetic Kidney Disease

Acta Medica Indonesiana, 2021
Background: Diabetic kidney disease (DKD), as a common cause of end-stage renal disease (ESRD), is a chronic complication of diabetes mellitus (DM). It has been established that vitamin D deficiency is one of DKD risk factors, which may be related to ...
Pringgodigdo Nugroho, Aida Lydia, Suhardjono Suhardjono, Kuntjoro Harimurti   +3 more
doaj  

Genetic Variability of TCF4 in Schizophrenia of Southern Chinese Han Population: A Case-Control Study

Frontiers in Genetics, 2019
Objective: Schizophrenia is thought to be a neurodevelopmental disorder. As a key regulator in the development of the central nervous system, transcription factor 4 (TCF4) has been shown to be involved in the pathogenesis of schizophrenia. The aim of our
Jingwen Yin, Dongjian Zhu, You Li, You Li, Dong Lv, Huajun Yu, Chunmei Liang, Chunmei Liang, Xudong Luo, Xusan Xu, Jiawu Fu, Haifeng Yan, Zhun Dai, Xia Zhou, Xia Wen, Susu Xiong, Zhixiong Lin, Juda Lin, Bin Zhao, Yajun Wang, Keshen Li, Keshen Li, Keshen Li, Guoda Ma, Guoda Ma   +24 more
doaj   +1 more source