Results 61 to 70 of about 5,783,756 (283)

SNV-FEAST: microbial source tracking with single nucleotide variants

Genome Biology, 2022
AbstractElucidating the sources of a microbiome can provide insight into the ecological dynamics responsible for the formation of these communities. Source tracking approaches to date leverage species abundance information; however, single nucleotide variants (SNVs) may be more informative because of their high specificity to certain sources.
Leah Briscoe, Eran Halperin, Nandita R. Garud   +2 more
openaire   +5 more sources

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions

BMC Genomics
Background Accurate pathogenicity prediction of rare variants in coding regions is crucial for prioritizing candidate variants in human diseases and advancing personalized precision medicine.
Jee Yeon Heo, Ju Han Kim
doaj   +1 more source

Genetics of type 2 diabetes: Beyond single nucleotide variant studies

Molecular Metabolism
Type 2 Diabetes (T2D) is a complex disease that has increased in prevalence in the last years affecting over 530 million people around the world. T2D increases mortality and morbidity by different mechanisms.
Celeste Moya-Valera, Mariana de Jesus Gallardo-Espinoza, Alex Fernando Arita, Francisco Lara-Hernandez, Maria Elena Quiroz-Rodriguez, Rosario Abellan, Ana-Barbara Garcia-Garcia, Felipe Javier Chaves   +7 more
doaj   +1 more source

Nutrient/TOR signaling controls adipose mitochondrial transcription factor A (TFAM) to regulate organismal growth in Drosophila

FEBS Letters, EarlyView.
Animals must match their growth rate to available nutrients. We show that in Drosophila larvae, the nutrient‐sensing TOR kinase controls growth by regulating levels of TFAM, a key regulator of mitochondrial function, in the adipose tissue. When nutrients are abundant, high TOR activity suppresses TFAM, lowering mitochondrial bioenergetic activity and ...
Shrivani Sriskanthadevan‐Pirahas, Shahoon Khan, Abhishek Sharma, Byoungchun Lee, Savraj S. Grewal   +4 more
wiley   +1 more source

Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis

Advances and Applications in Bioinformatics and Chemistry, 2017
Next-generation sequencing technology has provided resources to easily explore and identify candidate single-nucleotide polymorphisms (SNPs) and variants. However, there remains a challenge in identifying and inferring the causal SNPs from sequence data.
Suravajhala, Prashanth, BENSO, ALFREDO
openaire   +6 more sources

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants [PDF]

Scientific Reports, 2017
AbstractMitochondrial topoisomerase I (TOP1MT) is a type IB topoisomerase encoded in the nucleus of vertebrate cells. In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually ...
Hongliang Zhang, Yeonee Seol, Keli Agama, Keir C. Neuman, Yves Pommier   +4 more
openaire   +3 more sources

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

ROLES OF SINGLE-NUCLEOTIDE POLYMORPHISMS IN HEALTHY SUBJECTS AND DISEASE

, 2018
The application of sequencing technologies has steadily increased over the past few years. This has allowed an exponential amplification of the information available in genome databases.
Simona Alibrandi
core   +1 more source

Evaluating the impact of single nucleotide variants on transcription factor binding

Nucleic Acids Research, 2016
Diseases and phenotypes caused by disrupted transcription factor (TF) binding are being identified, but progress is hampered by our limited capacity to predict such functional alterations. Improving predictions may be dependent on expanding the set of bona fide TF binding alterations.
Shi, Wenqiang, Fornes, Oriol, Mathelier, Anthony, Wasserman, Wyeth W.   +3 more
openaire   +2 more sources

SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms [PDF]

Nucleic Acids Research, 2007
Inherited genetic variation plays a critical but largely uncharacterized role in human differentiation. The completion of the International HapMap Project makes it possible to identify loci that may cause human differentiation. We have devised an approach to find such ethnically variant single-nucleotide polymorphisms (ESNPs) from the genotype profile ...
Jungsun Park, Sohyun Hwang, Yong Seok Lee, Sang-Cheol Kim, Doheon Lee   +4 more
openaire   +3 more sources