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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.

Background

We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided ev...
S-EPMC10827271 | biostudies-literature
UnknownVariant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Background

We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence...
S-EPMC11137988 | biostudies-literature
UnknownGuidance on mucositis assessment from the MASCC Mucositis Study Group and ISOO: an international Delphi study.

Background

Mucositis is a common and highly impactful side effect of conventional and emerging cancer therapy and thus the subject of intense investigation. Although common practice, mucositis assessment is heterogeneously adopted and poorly guided, impacting evidence synthesis and translati...
S-EPMC11200283 | biostudies-literature
UnknownCharacterization of thrombosis risk in ambulatory patients with cancer: results of the observational, prospective, multicenter CARTAGO study.

Background

Venous thromboembolism (VTE) is one of the leading causes of death in patients with cancer. Currently, there is a need to develop an easily applicable risk model that can identify patients who will benefit from receiving primary thromboprophylaxis to reduce the incidence of VTE.
S-EPMC12395237 | biostudies-literature
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