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UnknownDensity functional theory, molecular docking and bioassay studies on (S)-2-hydroxy-N-(2S,3S,4R,E)-1,3,4 trihydroxyicos-16-en-2-yl)tricosanamide.
Not available
S-EPMC6690558 | biostudies-literature
ProteomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia by impairing autophagy
Neurodevelopmental disorders have great clinical and genetic heterogeneity and are known to arise from dysfunction in components of diverse cellular pathways, the precise pathomechanism for the majority however remains elusive. We studied five patients from three unrelated families originating from ...
ORGANISM(S): Homo sapiens (Human) 
2024-10-17 | PXD044735 | Pride
Microcephaly Autophagy Zftraf1 
ProteomicsDe novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. By employing pulldown assay coupled with mass spectrometry, we investigated the novel binding partners of CK2β and tried to find the imp...
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD029970 | Pride
Csnk2b Ck2β and ck2 
ProteomicsDe novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. To this end, we investigated the effects of mutated CK2β by performing phosphor proteome profiling of patient derived LCLs along with th...
ORGANISM(S): Homo sapiens (Human) 
2022-05-04 | PXD029983 | Pride
Csnk2b Ck2β and ck2 
UnknownHomozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families.
Not available
S-EPMC11262584 | biostudies-literature
UnknownAntiarthritic potential of the butanol fraction of Sesuvium sesuvioides: An in vitro, in vivo, and in silico evaluation.
Not available
S-EPMC10250616 | biostudies-literature
UnknownSustainable biosynthesis of lycopene by using evolutionary adaptive recombinant Escherichia coli from orange peel waste.
Not available
S-EPMC11305264 | biostudies-literature
UnknownMitogen-Activated Protein Kinase Expression Profiling Revealed Its Role in Regulating Stress Responses in Potato (Solanum tuberosum).
Not available
S-EPMC8309457 | biostudies-literature
UnknownTellurium doped zinc imidazole framework (Te@ZIF-8) for quantitative determination of hydrogen peroxide from serum of pancreatic cancer patients.
Not available
S-EPMC7713350 | biostudies-literature
UnknownProgress and gaps in poliovirus immunity: Evidence from a serological survey of children aged 6-23 months in high-risk districts of Pakistan.
Not available
S-EPMC12852092 | biostudies-literature
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