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ProteomicsNUDCD3 deficiency disrupts V(D)J recombination to cause SCID/Omenn syndrome
Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 9 affected patients across 3 consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain containing 3 (NUD...
ORGANISM(S): Homo sapiens (Human) 
2024-09-27 | PXD035840 | Pride
Pulldown Nudcd3 Proteomics Omenn syndrome 
UnknownSHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination.
Not available
S-EPMC9240092 | biostudies-literature
TranscriptomicsEffect of spermine oxidase overexpression on skeletal muscle mRNA expression.
For additional details see Bongers et al, Spermine Oxidase Maintains Basal Skeletal Muscle Gene Expression and Fiber Size, and Is Strongly Repressed by Conditions that Cause Skeletal Muscle Atrophy . Am J Physiol Endocrinol Metab. 2014 [under review] Bilateral tibialis anterior muscles of C57BL/6 m...
ORGANISM(S): Mus musculus 
2014-12-04 | E-GEOD-63006 | biostudies-arrayexpress
TranscriptomicsEffect of p21 overexpression on skeletal muscle mRNA expression.
For additional details see Bongers et al, Spermine Oxidase Maintains Basal Skeletal Muscle Gene Expression and Fiber Size, and Is Strongly Repressed by Conditions that Cause Skeletal Muscle Atrophy . Am J Physiol Endocrinol Metab. 2014 [under review] Bilateral tibialis anterior muscles of C57BL/6 m...
ORGANISM(S): Mus musculus 
2014-12-04 | E-GEOD-63007 | biostudies-arrayexpress
MetabolomicsUntargeted plasma metabolome identifies biomarkers in patients with extracranial arteriovenous malformations

OBJECTIVE: This study aimed to investigate the plasma metabolic profile of patients with extracranial arteriovenous malformations (AVM).

METHOD: Plasma samples were collected from 32 AVM patients and 30 healthy controls (HC). Ultra-high performance liquid c...

2023-10-30 | MTBLS7753 | MetaboLights
UnknownDeep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels.
Not available
S-EPMC2784327 | biostudies-literature
TranscriptomicsIdentification of novel mechanosensitive genes differentially regulated at 48 h timepoint in vivo using mouse carotid artery endothelium exposed to disturbed blood flow
Recently, we showed that disturbed flow caused by a partial ligation ofmouse carotid artery rapidly induces atherosclerosis. Analysis of mechanosenstive microRNA in the mouse carotid endothelium. In this study, we examined the microRNAs that respond differentially to blood flow pattern in the mouse ...
ORGANISM(S): Mus musculus 
2014-01-13 | E-GEOD-52243 | biostudies-arrayexpress
UnknownFactors associated with D-dimer levels in HIV-infected individuals.
Not available
S-EPMC3953205 | biostudies-literature
UnknownCryo-EM of (L,D)-2NapFF micelle
Not available
EMPIAR-11974 | biostudies-other
UnknownThe atypical mechanosensitive microRNA-712 derived from pre-ribosomal RNA induces endothelial inflammation and atherosclerosis.
Not available
S-EPMC3923891 | biostudies-literature
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