Results 121 to 130 of about 1,572,926 (319)

Computational Prediction of Clinical Phenotypes and Causal Variants in Neurodevelopmental Disorders: An Analysis of Genetic Variants Data [PDF]

openAdvancements in genomic sequencing technologies and bioinformatics tools have allowed the understanding of the genetic variations in organisms and their potential effects on phenotypes (traits).
CAMUZ, CAN ABDULLAH
core  

HD-and-RNA-variants-Chr3.vcf

, 2017
All HD and RNAseq variants on chromosome 3.
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

HD-and-RNA-variants-Chr10.vcf

, 2017
All HD and RNAseq variants on chromosome 10.
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

HD-and-RNA-variants-Chr18.vcf

, 2017
All HD and RNAseq variants on chromosome 18.
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

HD-and-RNA-variants-Chr19.vcf

, 2017
All HD and RNAseq variants on chromosome 19.
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

HD-and-RNA-variants-Chr15.vcf

, 2017
All HD and RNAseq variants on chromosome 15.
Thomas Lopdell (511314), Russell Snell (387740), Davis, Steve, Christine Couldrey (169434), Maksim Struchalin (166855), Steve Davis (5017841), Kathryn Tiplady (511313), Littlejohn, Mathew, Couldrey, Christine, Spelman, Richard, Struchalin, Maksim, Thomas Johnson (363281), Ric Sherlock (511317), Mathew Littlejohn (4690033), Tiplady, Kathryn, Sherlock, Ric, Richard Spelman (387738), Lopdell, Thomas, Johnson, Thomas, Keehan, Michael, Michael Keehan (4690036), Snell, Russell   +21 more
core   +1 more source