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ProteomicsMuRF1 mediated ubiquitination of M-line Titin D24728V
MuRF1 mediated ubiquitination of titin promotes autophagy machinery recruitment onto titin. Titin ubiquitination appears dynamically regulated by myofibrillar stretch via the unfolding of an NL linker sequence, leading to different ubiquitination patterns of the chain. This mechanism might be compro...
ORGANISM(S): Homo sapiens (Human) 
2021-06-23 | PXD015339 | Pride
Murf1 Ubiquitination Snp Titin 
ProteomicsMuRF1 mediated ubiquitination of M-line Titin
MuRF1 mediated ubiquitination of titin promotes autophagy machinery recruitment onto titin. Titin ubiquitination appears dynamically regulated by myofibrillar stretch via the unfolding of an NL linker sequence, leading to different ubiquitination patterns of the chain. This mechanism might be compro...
ORGANISM(S): Homo sapiens (Human) 
2021-06-23 | PXD015340 | Pride
Ubiquitination Titin Murf1 
UnknownIncreased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
Not available
S-EPMC6103908 | biostudies-literature
GenomicsInternational Multi-Center ADHD Gene Project (IMAGE) II Case Sample

This sample represents a collection of cases across a range of sites. All of these samples were ascertained for ADHD with most meeting criteria for combined type ADHD. The collection sites span Europe and America. Further details on the source and inclusion and exclusion information can be found ...

phs000407.v1.p1 | EGA
GenomicsThe PUWMa (Pfizer-funded study from the University of California Los Angeles (UCLA), Washington University (WASH-U), and Massachusetts General Hospital (MGH)) GWAS of ADHD

The PUWMa GWAS of ADHD is a multi-site collaboration initiated to conduct a family-based association study from existing research samples. The source sample of ADHD families was ascertained at Massachusetts General Hospital (MGH, N=309 trios), Washington University at St. Louis (WASH-U, N...

phs000358.v1.p1 | EGA
UnknownFemale-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome.
Not available
S-EPMC6035117 | biostudies-literature
UnknownFunctional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Not available
S-EPMC5563477 | biostudies-literature
GenomicsGenome wide association study of Coeliac Disease
We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions r...
EGAS00000000057 | EGA
TranscriptomicsExpression profiling of rheumatoid arthritis patients treated with anti-TNF
Expression profiles of anti-TNF responders were compared to profiles of anti-TNF non-responders in order to identify an expression signature for anti-TNF response In total 42 patients were treated with anti-TNF. RNA was isoloated from white blood cells and anti-TNF responders (n=18) were compared to...
ORGANISM(S): Homo sapiens 
2012-01-01 | E-GEOD-33377 | biostudies-arrayexpress
GenomicIMAGE II Genome-Wide Association

This sample represents a collection of cases across a range of sites. All of these samples were ascertained for ADHD with most meeting criteria for combined type ADHD. The collection sites span Europe and America. Further details on the source and inclusion and exclusion information can be found ...

phs000407 | dbGaP
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