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UnknownPoly(l-proline)-Stabilized Polypeptide Nanostructures via Ring-Opening Polymerization-Induced Self-Assembly (ROPISA).
Not available
S-EPMC11340022 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
UnknownCancer-Causative Mutations Occurring in Early Embryogenesis.
Not available
S-EPMC8983494 | biostudies-literature
GenomicsMETABRIC: Data from Pereira et al (2016), The somatic mutation profiles of 2433 breast cancers refine their genomic and transcriptomic landscapes. Nat Comms 7.
The genomic landscape of breast cancer is complex, and inter- and intra-tumour heterogeneity are important challenges in treating the disease. In this study, we sequence 173 genes in 2433 primary breast tumours that have copy number aberration (CNA), gene expression, and long-term clinical follow-u...
EGAS00001001753 | EGA
Genomicsena-DATASET-CRUK-CI-16-05-2016-12:25:56:672-139 - samples
Targeted sequencing of 173 genes in 2433 primary breast tumours. Data includes 2433 tumour samples, 523 adjacent normal (breast) samples and 127 blood samples. Libraries were prepared with Illumina's Nextera custom enrichment kit targetting all the exons of the most frequently mutated breast cance...
EGAD00001002115 | EGA
UnknownLithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial.
Not available
S-EPMC3610091 | biostudies-literature
UnknownProtocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31].
Not available
S-EPMC3189869 | biostudies-literature
UnknownMeta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.
Not available
S-EPMC5664299 | biostudies-literature
ProteomicsDistinct spectrum of ciliopathic diseases results from de novoTUBB4B variants through differential effects on organelle-specific microtubules
Microtubules are ancient and highly conserved polymers composed of alpha and beta tubulin heterodimers. Their dynamic remodelling drives diverse cellular processes from organelle trafficking and chromosome segregation to templating more stable structures like those of centrioles and ciliary axonemes...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2024-01-30 | PXD036304 | Pride
Tubulin Cilia 
UnknownIntronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Not available
S-EPMC12404725 | biostudies-literature
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