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TranscriptomicsTargeted exome sequencing of 69 human melanoma brain metastases
In-depth information regarding the DFCI OncoPanel sequencing panel has been described previously. Briefly, sequencing is performed using an Illumina HiSeq 2500 system (RRID:SCR_016383) with 2×100 paired-end reads. Samples must meet an average 50X coverage and minimum of 30X coverage for 80% of targe...
ORGANISM(S): Homo sapiens 
2024-11-21 | E-MTAB-14575 | biostudies-arrayexpress
TranscriptomicsGene expression profiling of fibroblasts harboring POC1A mutation
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and associated with Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome (OMIM #614813). In our study, we reported on two patients with primordial dwarfism (PD) from the same family. We utili...
ORGANISM(S): Homo sapiens 
2015-07-15 | E-GEOD-66314 | biostudies-arrayexpress
TranscriptomicsA specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors
Next generation sequencing of 28 thymic epithelial tumors (TETs) revealed a high frequency of GTF2I missense mutation (chr7:74146970T/A) in A thymomas, a relatively indolent subtype. The GTF2I mutation was confirmed in 82% of A and 74% of AB thymomas in a series of 274 TETs but was rare in aggressi...
ORGANISM(S): Homo sapiens 
2014-06-24 | E-GEOD-57892 | biostudies-arrayexpress
GenomicsA novel cardiomyopathy phenotype linked to missense mutation of CHD7
A novel cardiomyopathy phenotype linked to missense mutation of CHD7
PRJNA1240200 | ENA
TranscriptomicsAn activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Inflammasomes are intracellular innate immune sensors that respond to pathogen and damage-associated signals with the proteolytic cleavage of caspase-1, resulting in IL-1_ and IL-18 secretion and macrophage pyroptosis. The discovery that heterozygous gain-of-function mutations in NLRP3 lead to overs...
ORGANISM(S): Homo sapiens 
2014-09-08 | E-GEOD-57253 | biostudies-arrayexpress
GenomicsA Missense Mutation in Kcnc3 Causes Hippocampal Learning Deficits in Mice
A Missense Mutation in Kcnc3 Causes Hippocampal Learning Deficits in Mice
PRJNA834650 | ENA
GenomicsA missense mutation in AIOLOS causes B cell deficiency by interfering with IKAROS
A missense mutation in AIOLOS causes B cell deficiency by interfering with IKAROS
PRJNA523246 | ENA
TranscriptomicsmiRNA expression in healthy carriers of heterozygous BRCA1 mutation and healthy WT controls
In order to investigate whether carriers of BRCA1 heterozygous mutation show altered miRNA expression profiles, we established a panel of lymphoblastoid cell lines (LCLs) harboring either mutated or WT BRCA1 (control) and investigated their miRNA expression profiles. We were especially interested wh...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-60444 | biostudies-arrayexpress
ProteomicsCiliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks
The mechanisms underlying recessive Mendelian diseases and the interplay between genotype and phenotype still need to be better understood. It is therefore necessary to characterise the functional effects of missense mutations at the protein level. Here we focus on missense mutations in the intrafla...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD044186 | Pride
Cilia Intraflagellar transport Protein interaction Ciliopathy Hypomorph Missense mutation Edgetic 
UnknownThe ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.
Not available
S-EPMC1850333 | biostudies-literature
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