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MetabolomicsUrine metabolomic profiling in two siblings with biallelic pathogenic ATG7 variants with healthy control
Ultra-rare biallelic ATG7 variants were recently reported in five families presenting with neurodevelopmental disorders. Two adult female siblings (P1 and P2) from one family carried compound heterozygous loss-of-function variants (c.1975C>T [p.Arg659]; c.2080-2A>G, 39,40NM_006395.2), resulting in u...
2026-09-30 | MTBLS15856 | MetaboLights
MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsPathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production

BACKGROUND: Cryopyrin-Associated Periodic Syndrome (CAPS) is an autoinflammatory condition consequence of monoallelic variants in the NLRP3 gene that exacerbate IL-1β production. These variants are gain-of-function, but the exact regulatory mechanism of the NLRP3 CAPS-inflammasom...

2024-01-09 | MTBLS7872 | MetaboLights
TranscriptomicsTargeted exome sequencing of 69 human melanoma brain metastases
In-depth information regarding the DFCI OncoPanel sequencing panel has been described previously. Briefly, sequencing is performed using an Illumina HiSeq 2500 system (RRID:SCR_016383) with 2×100 paired-end reads. Samples must meet an average 50X coverage and minimum of 30X coverage for 80% of targe...
ORGANISM(S): Homo sapiens 
2024-11-21 | E-MTAB-14575 | biostudies-arrayexpress
GenomicsIntegrative Analysis of Pathogenic Structural Variants in Leukemia Genomes
Pathogenic Structural Variants in Leukemia Genomes
PRJEB50975 | ENA
TranscriptomicsRare and common variants in CARD14, an epidermal regulator of NF-kappaB, in psoriasis
Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding an NF-kB activator within skin epidermis, account for PSORS2. Here we describe fifteen additional rare, missense variants in CARD14, their distribution in seven psoriasis c...
ORGANISM(S): Homo sapiens 
2012-05-08 | E-GEOD-36381 | biostudies-arrayexpress
TranscriptomicsIdentification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus
Purpose: To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1). Methods: Next-generation sequencing was performed on DNA samples from 4 affected and 4 unaffected members of a previously reported family with PPCD1 linked to chromosome 20 between D20S182 and D20S195. Cus...
ORGANISM(S): Homo sapiens 
2016-06-30 | E-GEOD-72617 | biostudies-arrayexpress
GenomicsConditionally Pathogenic Genetic Variants of a Hematopoietic Disease-Suppressing Enhancer
Conditionally Pathogenic Genetic Variants of a Hematopoietic Disease-Suppressing Enhancer
PRJNA744950 | ENA
GenomicsClassifying pathogenic variants in amyloid beta using intramolecular genetic interaction profiling
Classifying pathogenic variants in amyloid beta using intramolecular genetic interaction profiling
PRJNA1039772 | ENA
GenomicsSCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
PRJNA1177435 | ENA
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