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UnknownAuditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Not available
S-EPMC8531511 | biostudies-literature
TranscriptomicsTranscriptional Atlas of Cardiogenesis Maps Congenital Heart Disease Interactome
Mammalian heart development is built on highly conserved molecular mechanisms with polygenetic perturbations resulting in a spectrum of congenital heart diseases (CHD). However, the transcriptional landscape of cardiogenic ontogeny that regulates proper cardiogenesis remains largely based on candida...
ORGANISM(S): Mus musculus 
2014-05-19 | E-GEOD-51483 | biostudies-arrayexpress
MetabolomicsProfiling the metabolome of uterine fluid for early detection of ovarian cancer

Ovarian cancer (OC) causes high mortality in women because of ineffective biomarkers for early diagnosis. Here, we perform metabolomics analysis on an initial training set of uterine fluid from 96 gynecological patients. A seven-metabolite-marker panel consisting of vanillylmandelic acid, norepin...

2023-03-06 | MTBLS4861 | MetaboLights
ProteomicsMitochondrial SUMOylation of NDUFA9 Drives ClpP-Dependent Degradation and Complex I Dysfunction in a Leigh Syndrome–Associated Mutation
Mitochondrial complex I (CI) is essential for mitochondrial energy metabolism, and its dysfunction underlies a large fraction of inherited mitochondrial diseases, including Leigh syndrome. However, how post-translational modifications (PTMs) govern CI subunit stability and quality control remains po...
ORGANISM(S): Mus Musculus 
PXD081961 |
UnknownmiR-423 rs6505162 C>A polymorphism contributes to decreased Wilms tumor risk.
Not available
S-EPMC6036889 | biostudies-literature
UnknownTRMT61B rs4563180 G>C variant reduces hepatoblastoma risk: a case-control study of seven medical centers.
Not available
S-EPMC10457066 | biostudies-literature
TranscriptomicsThe grapevine expression atlas reveals a deep transcriptome shift driving the entire plant into a maturation program
The first genome-wide transcriptomic atlas of grapevine (Vitis vinifera) is based on 54 diverse samples expressing ~93% of predicted grapevine genes. Pollen and senescent leaves have unique transcriptomes but microarray analysis grouped all other samples into vegetative/green or mature/woody categor...
ORGANISM(S): Vitis vinifera 
2012-09-10 | E-GEOD-36128 | biostudies-arrayexpress
TranscriptomicsAn atlas of active enhancers across human cell types and tissues
Sequencing of 5' ends of RNA molecules from control and exosome-depleted HeLa-S3 cells. CAGE library construction from RNA extracted from control and exosome-depleted cells.
ORGANISM(S): Homo sapiens 
2014-03-26 | E-GEOD-49834 | biostudies-arrayexpress
UnknownDROSHA rs10719 T>C is associated with lymph node metastasis and clinical stage of gastric cancer patients.
Not available
S-EPMC6965246 | biostudies-literature
MetabolomicsSelective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts

INTRODUCTION: A decline in mitochondrial function represents a key factor of a large number of inborn errors of metabolism, which lead to an extremely heterogeneous group of disorders.

OBJECTIVES: To gain insight into the biochemical consequences of mitocho...

2021-10-06 | MTBLS761 | MetaboLights
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