Results 81 to 90 of about 9,740,536 (302)

Golgi enzymes are retrieved from the plasma membrane to the trans‐Golgi network

FEBS Letters, EarlyView.
Golgi enzymes are traditionally considered resident proteins retained within the Golgi apparatus. Here, we demonstrate that a subset transiently reaches the cell surface and is subsequently retrieved to the trans‐Golgi network via retrograde transport. Using a nanobody‐based toolkit, we uncover a dynamic trafficking cycle of several Golgi enzymes.
Dominik P. Buser, Tina Junne
wiley   +1 more source

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Klauck, Sabine M., Duketis, Eftichia, Wouter Staal, Sabine M. Klauck, Christine M. Freitag, Regina Waltes, Freitag, Christine M., Staal, Wouter, Waltes, Regina, Eftichia Duketis   +9 more
core   +1 more source

Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry

FEBS Letters, EarlyView.
EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri, Ayaka Nagasato‐Ichikawa, Keita Iida, Shuhei Kimura, Akira Imamoto, Mariko Okada   +5 more
wiley   +1 more source

The Role of Constitutional Copy Number Variants in Breast Cancer [PDF]

Microarrays, 2015
Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility.
Walker, Logan C., Wiggins, George A.R., Pearson, John F.   +2 more
openaire   +2 more sources

Impact of constitutional copy number variants on biological pathway evolution

BMC Evolutionary Biology, 2013
Background Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations.
Poptsova Maria, Banerjee Samprit, Gokcumen Omer, Rubin Mark A, Demichelis Francesca   +4 more
doaj   +1 more source

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

Molecular Genetics and Metabolism Reports, 2019
Objectives: The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of SLC2A3 has been ...
Kim R. Simpfendorfer, Wentian Li, Andrew Shih, Hongxiu Wen, Harini P. Kothari, Edward A. Einsidler, Arthur Wuster, Julie Hunkapiller, Timothy W. Behrens, Robert R. Graham, Michael J. Townsend, Doron M. Behar, Rui Hu, Elliott Greenspan, Peter K. Gregersen   +14 more
doaj   +1 more source

Gene Copy Number Variation Does Not Reflect Structure or Environmental Selection in Two Recently Diverged California Populations of Suillus brevipes

G3: Genes, Genomes, Genetics, 2020
Gene copy number variation across individuals has been shown to track population structure and be a source of adaptive genetic variation with significant fitness impacts.
Anna L. Bazzicalupo, Mallory Thomas, Robert Mason, Munro-Ehrlich, Sara Branco   +4 more
doaj   +1 more source

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

BMC Bioinformatics, 2021
Background Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data.
Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano   +2 more
doaj   +1 more source

Functional comparison of EncB and EncC cargo proteins in iron storage within the Myxococcus xanthus encapsulin

FEBS Letters, EarlyView.
Encapsulins are protein nanocompartments that play an important role in iron storage. In the Myxococcus xanthus encapsulin system, two cargo proteins called EncB and EncC contribute to iron mineralization. Here, we show that EncB and EncC generate iron‐containing minerals with distinct chemical compositions, suggesting that the composition of stored ...
Harry B. McDowell, Thomas Walther, Egbert Hoiczyk   +2 more
wiley   +1 more source