Results 71 to 80 of about 858,486 (284)

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

A novel human glucocorticoid receptor SNP results in increased transactivation potential. [PDF]

, 2017
Glucocorticoids are one of the most widely used therapeutics in the treatment of a variety of inflammatory disorders. However, it is known that there are variable patient responses to glucocorticoid treatment; there are responders and non-responders, or ...
Cho, Kiho, Green, Tajia L, Greenhalgh, David G, Leventhal, Stacey M, Lim, Debora, Tung, Kelly   +5 more
core   +3 more sources

Polymorphous Light Eruption.

Journal of Investigative Dermatology, 1987
Polymorphous light eruption (PLE) is a common photodermatosis of unknown etiology. It afflicts mainly fair-skinned patients, with a preponderance of young females. There is, however, no absolute restriction as to age, sex, or race. Clinical variants include the papular, vesiculo-bullous, and hemorrhagic variety, as well as plaque, erythema multiforme ...
Hölzle, Erhard, Plewig, Gerd, von Kries, Renate, Lehmann, Percy   +3 more
openaire   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +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

PolyMorph: A P300 Polymorphic Speller [PDF]

, 2013
P300 is an electric signal emitted by brain about 300 milliseconds after a rare, but relevant-for-the-user event. Even if it is hard to identify and it provides a low-rate communication channel, it can be used in cases in which other evoked potentials fail.
CASAGRANDE, ALBERTO, JARMOLOWSKA, JOANNA, TURCONI, MARCELLO MARIA, FABRIS, FRANCESCO, BATTAGLINI, PIERO PAOLO   +4 more
openaire   +2 more sources

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +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

Association between Endothelial Selectin (E-selectin) gene polymorphisms and E-selectin level with visceral leishmaniais, in an ARMS-PCR based study [PDF]

, 2008
Background: In the visceral leishmaniasis (VL), parasites reside in reticuluendothelial system, mainly in macrophages. Endothelial Selectin (E-selectin) might play an important role in leukocyte-endothelium interactions and inflammatory cell recruitment.
Bazmani, A., Fallah, M., Hajilooi, M., Mazloumi Gavgani, A., Taherkhani, H.   +4 more
core