Results 31 to 40 of about 373,528 (267)

HGVbaseG2P: a central genetic association database [PDF]

Nucleic Acids Research, 2009
The Human Genome Variation database of Genotype to Phenotype information (HGVbaseG2P) is a new central database for summary-level findings produced by human genetic association studies, both large and small. Such a database is needed so that researchers have an easy way to access all the available association study data relevant to their genes, genome ...
Thorisson, Gudmundur A., Lancaster, Owen, Free, Robert C., Hastings, Robert K., Sarmah, Pallavi, Dash, Debasis, Brahmachari, Samir K., Brookes, Anthony J.   +7 more
openaire   +3 more sources

PharmaKoVariome database for supporting genetic testing

Database, 2022
AbstractPharmacogenomics (PGx) provides information about routine precision medicine, based on the patient’s genotype. However, many of the available information about human allele frequencies, and about clinical drug–gene interactions, is based on American and European populations.
Jungeun Kim, Jae-Pil Choi, Min Sun Kim, Jong Bhak   +3 more
openaire   +3 more sources

Function‐driven design of a surrogate interleukin‐2 receptor ligand

FEBS Letters, EarlyView.
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang, Zelin Cheng, Teng Li, Fulian Wang, Liangminghui Zhang, Xiuxiu He, Lili Liu, Wei Wang, Aibin Liang, Guang Yang   +9 more
wiley   +1 more source

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions

FEBS Letters, EarlyView.
Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf, Nicholas F. Downing, Kaitlyn M. Mills, Samuel C. Metcalfe, Alexander E. Kritzer, Lindsey D. Mayo, Peter C. Hollenhorst   +6 more
wiley   +1 more source

English and Irish population comparison using STR markers: Insights into genetic disparities and historical influences

Forensic Science International: Reports, 2023
Short tandem repeat (STR) markers are commonly used in forensic investigations and kinship testing due to their cost-effectiveness and high discriminatory power. In the United Kingdom, STR allele frequency databases are available for different population
Jessica Perry, Sharlize Pedroza Matute, Stephen Cummings, Tasnim Munshi, Sasitaran Iyavoo   +4 more
doaj   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Subquery allocations in distributed databases using genetic algorithms

Journal of Computer Science and Technology, 2010
Minimization of query execution time is an important performance objective in distributed databases design. While total time is to be minimized for On Line Transaction Processing (OLTP) type queries, response time has to be minimized in Decision Support ...
Narasimhaiah Gorla, Suk-Kyu Song
doaj  

Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review

JMIR Bioinformatics and Biotechnology
BackgroundNational and ethnic mutation frequency databases (NEMDBs) play a crucial role in documenting gene variations across populations, offering invaluable insights for gene mutation research and the advancement of precision medicine.
Shumaila Khan, Mahmood Alam, Iqbal Qasim, Shahnaz Khan, Wahab Khan, Orken Mamyrbayev, Ainur Akhmediyarova, Nurzhan Mukazhanov, Zhibek Alibiyeva,   +8 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source