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ProteomicsBi-allelic variants of FILIP1 cause a congenital syndrome defined by facial dysmorphisms and a broad range of neurological manifestations
Filamin-A-interacting protein 1 (FILIP1) is a structural protein known to take on roles in neuronal and muscle function and integrity and to interact in addition to filamin-A with filamin-C. For both proteins pathogenic variants in the corresponding genes were linked to neurological symptoms and dys...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD036407 | Pride
Vacuolar myopathy Protein aggregate myopathy Flnc Flna Mfm/ myofibrillar myopathy 
UnknownLow tumour burden is associated with observation after surgery in patients with grade 2 astrocytoma and oligodendroglioma: results from the prospective multicentre LoG-Glio registry.
Not available
S-EPMC12528241 | biostudies-literature
GenomicsSalt augments macrophage-driven host defense in the skin
Immune cells regulate a hypertonic microenvironment in the skin; however, possible functions of increased skin Na+ concentrations are unknown. We found that Na+ accumulated at the site of bacterial skin infections in humans and in mice. We used the protozoan parasite Leishmania (L.) major as a model...
ORGANISM(S): Mus musculus 
2015-02-26 | E-MTAB-3343 | biostudies-arrayexpress
GenomicsMutational patterns and regulatory networks in epigenetic subgroups of meningioma (H033)
DNA methylation patterns delineate clinically relevant subgroups of meningioma. We previously established the six meningioma methylation classes (MC) benign-1, 2, 3, intermediate-A, B and malignant. Here, we set out to identify subgroup-specific mutational patterns and pathway regulation. Whole-gen...
EGAS00001003481 | EGA
TranscriptomicsGenome sequencing of childhood medulloblastoma brain tumors links chromothripsis with TP53 mutations
Genomic rearrangements typically occur progressively during tumor development. Recent findings, however, suggest an alternative mechanism, involving chromosome shattering and reshuffling ('chromothripsis'), for which no genetic basis has yet been described. Whole-genome sequencing of a Sonic-Hedgeho...
ORGANISM(S): Homo sapiens 
2012-01-20 | E-GEOD-34258 | biostudies-arrayexpress
UnknownInternational survey of treatment practices for atopic dermatitis in pregnant and breastfeeding women: Physician perspectives.
Not available
S-EPMC12435135 | biostudies-literature
GenomicsEGAS00000000046-ega-20110530 - samples
ICGC Germany PedBrain Medulloblastoma Pilot_2_LM
EGAD00001000027 | EGA
GenomicsLinking genes, genomic instability and molecular subgroups in medulloblastoma
Brain tumors are the second most common pediatric cancer and carry the highest mortality rates in this age group. Medulloblastoma is the most frequent malignant brain tumor of childhood. Recent studies indicate that medulloblastoma comprises at least four sub-entities (SHH-signaling, WNT-signali...
EGAS00001000085 | EGA
UnknownSpatially Resolved Ex Vivo Drug Response Profiling in SMARCB1-Deficient Sinonasal Carcinoma
Not available
S-SCDT-10_1038-S44321-026-00437-1 | biostudies-other
Genomicsbe40ebac-acee-4026-a661-4330bb0f657b - samples
Bam files for 124 samples (62 tumor vs blood pairs); Whole Genome Sequencing performed on Illumina HiSeq X Ten
EGAD00001005061 | EGA
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