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UnknownPrimary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models.
Not available
S-EPMC6953258 | biostudies-literature
UnknownTMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Not available
S-EPMC3234373 | biostudies-literature
TranscriptomicsEngineering acetyl-CoA supply: Functional expression of a bacterial pyruvate-dehydrogenase complex in the cytosol of Saccharomyces cerevisiae
The energetic (ATP) cost of biochemical pathways critically determines the maximum yield of metabolites of vital or commercial relevance. Cytosolic acetyl-CoA is a key precursor for biosynthesis in eukaryotes and for many industrially relevant product pathways that have been introduced into Saccharo...
ORGANISM(S): Saccharomyces cerevisiae 
2014-11-04 | E-GEOD-59814 | biostudies-arrayexpress
MetabolomicsBacterial profiles analysed by REIMS using Xevo G2-XS

Rapid evaporative ionisation mass spectrometry (REIMS) has been demonstrated capable of bacterial speciation by differentiation of their metabolic/lipidomic profiles. Previous work has shown the use of hand-held probes [1,2], and this dataset makes use of a robotic sampling probe which allows for...

2025-07-11 | MTBLS11776 | MetaboLights
UnknownMissense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Not available
S-EPMC12779253 | biostudies-literature
UnknownTwo novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
Not available
S-EPMC5159775 | biostudies-literature
UnknownDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Not available
S-EPMC3824130 | biostudies-literature
TranscriptomicsCharacterisation of microRNA expression in post-natal mouse mammary gland development
Background: The differential expression pattern of microRNAs (miRNAs) during mammary gland development might provide insights into their role in regulating the homeostasis of the breast epithelium. Our aim was to analyse these regulatory functions by deriving a comprehensive tissue-specific combined...
ORGANISM(S): Mus musculus 
2010-06-25 | E-GEOD-15057 | biostudies-arrayexpress
TranscriptomicsCharacterisation of microRNA expression in post-natal mouse mammary gland development [miRNA]
Background: The differential expression pattern of microRNAs (miRNAs) during mammary gland development might provide insights into their role in regulating the homeostasis of the breast epithelium. Our aim was to analyse these regulatory functions by deriving a comprehensive tissue-specific combined...
ORGANISM(S): Mus musculus 
2010-06-25 | E-GEOD-15055 | biostudies-arrayexpress
UnknownAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Not available
S-EPMC1196400 | biostudies-literature
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