Results 91 to 100 of about 12,731,337 (303)

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

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

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Prospecting the protein design landscape

FEBS Letters, EarlyView.
This review outlines the current state of various protein design approaches. We discuss the current possibilities enabled by recently released tools, highlight future avenues to pursue in protein design, and underscore the crucial role of key databases and resources for successful protein design workflows.
Jakob R. Riccabona, Katharina T. Stonig, Jens Meiler, Clara T. Schoeder, Monica L. Fernández‐Quintero   +4 more
wiley   +1 more source

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits

BMC Genomics, 2012
Background Copy number variation (CNV) is a major source of structural variants and has been commonly identified in mammalian genome. It is associated with gene expression and may present a major genetic component of phenotypic diversity.
Chen Congying, Qiao Ruimin, Wei Rongxing, Guo Yuanmei, Ai Huashui, Ma Junwu, Ren Jun, Huang Lusheng   +7 more
doaj   +1 more source

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Genome Medicine, 2020
Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants ...
Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin   +3 more
doaj   +1 more source

L‐aspartate oxidase provides new insights into fumarate reduction in anaerobic darkness in Synechocystis sp. PCC6803

FEBS Letters, EarlyView.
Synechocystis strains deficient in succinate dehydrogenase (SDH) secrete more succinate than the WT under dark anaerobic conditions, supporting that SDH then primarily acts as SDH, not as a fumarate reductase. L‐aspartate oxidase (Laspo) from Synechocystis is functional under anaerobic conditions, reducing fumarate to succinate.
Kateryna Kukil, Jeffrey A. Hawkes, Cecilia Blikstad, Pia Lindberg   +3 more
wiley   +1 more source

Copy number variation in the DSD and control groups.

, 2019
Copy number variation in the DSD and control groups.
Maciej Szydlowski (3450098), Stanislaw Dzimira (6862271), Rita Payan-Carreira (4904296), Artur Maslak (6862274), Marek Switonski (236318), Monika Stachowiak (6031856), Eline Wydooghe (6862277), Joanna Nowacka-Woszuk (236277), Wojciech Nizanski (6862268), Tomasz Nowak (6862280), Izabela Szczerbal (236308)   +10 more
core   +1 more source

Copy number variation and genomic alterations in health and disease [PDF]

, 2009
A report of the 1st GOLDEN HELIX Symposium Copy number variation and genomic alterations in health and disease, Athens, Greece, 28-29 November ...
Petersen, M.B. (Michael), Patrinos, G.P. (George)   +1 more
core   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source