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ProteomicsTMX2 is a key regulator of cellular redox state and its dysfunction causes severe brain developmental abnormalities.
The redox state of the neural progenitors regulates physiological processes such as neuronal differentiation, dendritic and axonal growth. The relevance of ER-associated oxidoreductases in these processes is largely unexplored. We describe a severe neurological disorder caused by biallelic loss of f...
ORGANISM(S): Homo sapiens (Human) 
2019-11-19 | PXD014064 | Pride
Tmx2 Brain developmental abnormalities Redox state 
ProteomicsMolecular analysis of clinically defined subsets of high-grade serous ovarian cancer
The diversity and heterogeneity within high-grade serous ovarian cancer (HGSC) is not well understood. Comprehensive molecular analyses were performed including high-pass whole-genome sequencing, targeted deep DNA sequencing, RNA sequencing, reverse-phase protein arrays, mass spectrometry-based prot...
ORGANISM(S): Homo sapiens (Human) 
2020-05-27 | PXD014980 | Pride
Human Ovarian cancer Tissue 
UnknownPleiotropic associations of heterozygosity for the <i>SERPINA1</i> Z allele in the UK Biobank.
Not available
S-EPMC8107350 | biostudies-literature
UnknownSCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Not available
S-EPMC8552104 | biostudies-literature
UnknownMolecular Analysis of Clinically Defined Subsets of High-Grade Serous Ovarian Cancer.
Not available
S-EPMC7234854 | biostudies-literature
UnknownTMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Not available
S-EPMC6904804 | biostudies-literature
UnknownPrecision treatment of beta-cell monogenic diabetes: a systematic review.
Not available
S-EPMC11258280 | biostudies-literature
UnknownParticipant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis.
Not available
S-EPMC10551015 | biostudies-literature
UnknownVariants associated with HHIP expression have sex-differential effects on lung function.
Not available
S-EPMC7938335 | biostudies-literature
UnknownParticipant characteristics in the effectiveness of lifestyle interventions to optimize gestational weight gain: a systematic review and meta-analysis.
Not available
S-EPMC12552448 | biostudies-literature
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