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UnknownMMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Not available
S-EPMC1201660 | biostudies-literature
UnknownIPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
Not available
S-EPMC9972783 | biostudies-literature
UnknownThe Chlamydia pneumoniae effector SemD exploits its host's endocytic machinery by structural and functional mimicry.
Not available
S-EPMC11344771 | biostudies-literature
UnknownExploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.
Not available
S-EPMC9473317 | biostudies-literature
ProteomicsA single chlamydial protein reshapes the plasma membrane and serves as recruiting platform for central endocytic effector proteins
Uptake of obligate intracellular bacterial pathogens into mammalian epithelial cells is critically dependent on modulation of the host’s endocytic machinery. It is an open question how the invading pathogens generate a membrane-bound vesicle appropriate to their size. This requires extensive deforma...
ORGANISM(S): Chlamydia pneumoniae Homo sapiens (Human) 
2023-05-15 | PXD041847 | Pride
Epithelial cell Actin binding Chlamydia pneumoniae Semd Pathogen Infection Endocytosis Membrane 
UnknownBGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Not available
S-EPMC4908150 | biostudies-literature
TranscriptomicsSpliceosome-Mediated-Decay (SMD) regulates expression of non-intronic genes in budding yeast
Purpose: The goals of this study were to determine whether the spliceosome interacts with non-intronic mRNAs Methods: RNAseq was performed on RNA that immunoprecipitated with the yeast SMD1 protein. Tandem-affinity-purified RNAs were extracted and RNAseq libraries were generated using the EpiCentre...
ORGANISM(S): Saccharomyces cerevisiae 
2013-10-11 | E-GEOD-49966 | biostudies-arrayexpress
UnknownIdentification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
Not available
S-EPMC5537416 | biostudies-literature
UnknownA method to noninvasively identify cardiac bioelectrical sources.
Not available
S-EPMC4205085 | biostudies-literature
UnknownMatrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.
Not available
S-EPMC4159868 | biostudies-literature
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