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GenomicsGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. ...
EGAS00001000957 | EGA
TranscriptomicsThe RANK/RANKL axis controls vascular dynamics in the bone marrow
Receptor activator of nuclear factor kappa B ligand (RANKL) is an essential cytokine that induces osteoclastic differentiation by monocyte-macrophage lineage precursors. Here, we showed that in addition to its conventional action, RANKL controls vascular permeability in the bone marrow, where it fac...
ORGANISM(S): Mus musculus 
2025-10-23 | E-MTAB-15929 | biostudies-arrayexpress
UnknownLRRK2 regulates endoplasmic reticulum-mitochondrial tethering through the PERK-mediated ubiquitination pathway
Not available
S-SCDT-EMBOJ-2018-100875 | biostudies-other
Genomicsena-DATASET-MUG-11-09-2014-07:42:30:338-15 - samples
Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X
EGAD00001001009 | EGA
Genomicsena-DATASET-MUG-11-09-2014-07:45:47:901-16 - samples
Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2
EGAD00001001010 | EGA
GenomicsDAC CTC - Plasma-DNA
Data Access Committee EGAC00001000072
EGAC00001000072 | EGA
TranscriptomicsMyeloid-biased HSC require Semaphorin 4A from the bone marrow niche for self-renewal under stress and life-long persistence
Tissue stem cells are hierarchically organized, but the signals that selectively preserve their functional integrity are largely unknown. Semaphorin 4A (Sema4A) is a specific regulator of myeloid-biased hematopoietic stem cells (myHSC), which are positioned at the top of the HSC hierarchy. Through s...
ORGANISM(S): Mus musculus 
2023-06-04 | E-MTAB-12890 | biostudies-arrayexpress
TranscriptomicsSema4A, a novel serum marker of multiple sclerosis, implicates Th17 pathology and efficacy of interferon-β.
Background: Multiple sclerosis (MS) is a demyelinating autoimmune disease of the central nervous system and the leading cause of lasting neurological disabilities in young adults. Increasing evidence suggests that early treatment prevents the development of disability. However, there have been no re...
ORGANISM(S): Homo sapiens 
2011-06-01 | E-GEOD-26484 | biostudies-arrayexpress
UnknownSecretion of mitochondrial DNA via exosomes promotes inflammation in Behçet's syndrome
Not available
S-SCDT-10_15252-EMBJ_2022112573 | biostudies-other
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