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ProteomicsMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation, however only ~1/100 carri...
ORGANISM(S): Homo sapiens (Human) 
2020-10-13 | PXD020181 | Pride
Mitochondrial myopathy Digenic inheritance Reversible infantile respiratory chain deficiency Homoplasmic trna mutation 
TranscriptomicsTranscriptomic analysis of autistic brain reveals convergent molecular pathology [high-throughput sequence data]
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental condition characterized by marked genetic heterogeneity. Thus, a fundamental question is whether autism represents an aetiologically heterogeneous disorder in which the myriad genetic or environmental risk factors pertur...
ORGANISM(S): Homo sapiens 
2011-07-12 | E-GEOD-30573 | biostudies-arrayexpress
UnknownVariant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Not available
S-EPMC10827271 | biostudies-literature
UnknownVariant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Not available
S-EPMC11137988 | biostudies-literature
UnknownGuidance on mucositis assessment from the MASCC Mucositis Study Group and ISOO: an international Delphi study.
Not available
S-EPMC11200283 | biostudies-literature
UnknownCharacterization of thrombosis risk in ambulatory patients with cancer: results of the observational, prospective, multicenter CARTAGO study.
Not available
S-EPMC12395237 | biostudies-literature
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