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ProteomicsCharacterisation of a novel CRLS1 variant in multi-system mitochondrial disease pathogenesis identifies mitochondrial and endoplasmic reticular stress responses to cardiolipin dysfunction
Mitochondrial diseases (MD) are a group of inherited diseases with highly varied and complex clinical presentations and their molecular diagnosis has been improved through next generation sequencing. Here, we report four individuals, two of whom are siblings, affected by a progressive mitochondrial ...
ORGANISM(S): Homo sapiens (Human) 
2023-03-06 | PXD029861 | Pride
Dia Mitochondrial disease Mitochondria Fibroblast Human 
UnknownA functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer.
Not available
S-EPMC4741487 | biostudies-literature
UnknownMN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Not available
S-EPMC7962909 | biostudies-literature
UnknownAuthentication of M14 melanoma cell line proves misidentification of MDA-MB-435 breast cancer cell line.
Not available
S-EPMC5762610 | biostudies-literature
TranscriptomicsMAQC
The MicroArray Quality Control (MAQC) project was initiated to address these concerns, as well as other performance and analysis issues. We demonstrate the consistency of results within a platform across test sites as well as the high level of cross-platform concordance in terms of genes identified ...
ORGANISM(S): Homo sapiens 
2006-12-04 | E-TABM-132 | biostudies-arrayexpress
UnknownPMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients.
Not available
S-EPMC11613782 | biostudies-literature
UnknownA Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.
Not available
S-EPMC6139053 | biostudies-literature
UnknownExclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Not available
S-EPMC12414659 | biostudies-literature
UnknownA map of human genome variation from population-scale sequencing.
Not available
S-EPMC3042601 | biostudies-literature
UnknownMutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Not available
S-EPMC9148538 | biostudies-literature
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