Results 181 to 190 of about 162,786 (255)

P149: Exome sequencing vs chromosomal microarray for copy number variant detection*

Genetics in Medicine Open
Kirsty McWalter, Ganka Douglas, Amanda Lindy, Jane Juusola, Paul Kruszka   +4 more
doaj   +1 more source

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction. [PDF]

Hum Mol Genet
Boehler NA, Seheult SDI, Wahid M, Hase K, D'Amico SF, Saini S, Mascarenhas B, Bergman ME, Phillips MA, Faure PA, Cheng HM.   +10 more
europepmc   +1 more source

Identifying and characterising a plant GH1 β‐glucosidase that exhibits hydrolytic activity on N‐linked glucopyranoside

FEBS Open Bio, EarlyView.
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli, Carlotta Chiesa, Maher Abou Hachem, Ditte Hededam Welner   +3 more
wiley   +1 more source

Genome-Wide Analysis Reveals Copy Number Variant Gene TGFBR3 Regulates Pig Back Fat Deposition. [PDF]

Animals (Basel)
Zhang C, Yang H, Xu Q, Liu M, Chao X, Chen J, Zhou B.   +6 more
europepmc   +1 more source

Structural studies and functional engineering of NanX: an anhydro‐sialic acid transporter from Escherichia coli

FEBS Open Bio, EarlyView.
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty, Kelsi R. Hall, Zachary D. Tillett, Liam S. Turk, James S. Davies, Michael J. Currie, Hamish G. Brown, Sepideh Valimehr, Peter D. Mace, Andrew E. Whitten, Santosh Panjikar, Eric Hanssen, Rachel A. North, Renwick C.J. Dobson   +13 more
wiley   +1 more source

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases. [PDF]

Dev Med Child Neurol
Bowman P, Grimes H, Dallosso AR, Berry I, Mullin S, Rankin J, Low KJ.   +6 more
europepmc   +1 more source

Adenosine triphosphate as a modulator of protein interactions and stability

FEBS Open Bio, EarlyView.
ATP is best known as the cell's energy currency, but it also shapes how proteins fold, interact, aggregate and form biomolecular condensates. This review explains the emerging physical principles behind these effects, including weak binding to charged protein regions, magnesium‐dependent behaviour and concentration‐dependent control of protein ...
Shuyuan Tan, Robin Curtis
wiley   +1 more source

Purification and preparation of Marchantia polymorpha Auxin Response Factor 2 for phase separation studies

FEBS Open Bio, EarlyView.
We describe detailed protocols for the purification and preparation of Marchantia polymorpha Auxin Response Factor 2 (MpARF2). This protein is fused to an MBP solubility tag and an mNG fluorescent tag and is purified from Escherichia coli. The presented procedures make it possible to study MpARF2 assemblies, which could arise from phase separation ...
Bas Janssen, Robin Romein, Willy A. M. van den Berg, Simon Lindhoud, Jan Willem Borst, Carlo P. M. van Mierlo   +5 more
wiley   +1 more source

Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline. [PDF]

BMC Bioinformatics
Artaza H, Lavrichenko K, Wolff ASB, Røyrvik EC, Vaudel M, Johansson S.   +5 more
europepmc   +1 more source