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UnknownIn-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Not available
S-EPMC3487125 | biostudies-literature
UnknownThe SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Not available
S-EPMC4297897 | biostudies-literature
TranscriptomicsTranscriptional profiling of E. coli K-12 and E. coli O157 (Sakai) following heat shock at 45 degree celsius
Escherichia coli O157 presents a number of specific problems in terms of food safety and public health. It has been found that E. coli O157 is more resistant to a number of the stresses encountered during food production such as heat, pH and osmotic shock. This greater resistance is thought to contr...
ORGANISM(S): Escherichia coli 
2018-03-20 | E-MTAB-5912 | biostudies-arrayexpress
UnknownGoldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Not available
S-EPMC7693350 | biostudies-literature
GenomicsHira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells [ChIP-Seq]
Polycomb repressive complex 2 (PRC2) regulates gene expression during lineage specification through trimethylation of lysine 27 on histone H3 (H3K27me3). In Drosophila, polycomb binding sites are dynamic chromatin regions coupled to incorporation of the histone variant H3.3. Here we show in mouse em...
ORGANISM(S): Mus musculus 
2013-09-30 | E-GEOD-42152 | biostudies-arrayexpress
UnknownShprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Not available
S-EPMC12418575 | biostudies-literature
UnknownThe Association between Portion Sizes from High-Energy-Dense Foods and Body Composition in European Adolescents: The HELENA Study.
Not available
S-EPMC7998698 | biostudies-literature
ProteomicsIdentification of regulators of polyploidization presents therapeutic targetsfor treatment of AMKL
Wen Q, Goldenson B, Silver SJ, Schenone M, Dancik V, Huang Z, Wang LZ, Lewis TA, An WF, Li X, Bray MA, Thiollier C, Diebold L, Gilles L, Vokes MS, Moore CB, Bliss-Moreau M, Verplank L, Tolliday NJ, Mishra R, Vemula S, Shi J, Wei L, Kapur R, Lopez CK, Gerby B, Ballerini P, Pflumio F, Gilliland DG, Go...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2014-01-27 | MSV000078536 | MassIVE
UnknownDe novo GABRG2 mutations associated with epileptic encephalopathies.
Not available
S-EPMC5226060 | biostudies-literature
TranscriptomicsHira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells [RNA-Seq]
Polycomb repressive complex 2 (PRC2) regulates gene expression during lineage specification through trimethylation of lysine 27 on histone H3 (H3K27me3). In Drosophila, polycomb binding sites are dynamic chromatin regions coupled to incorporation of the histone variant H3.3. Here we show in mouse em...
ORGANISM(S): Mus musculus 
2013-09-30 | E-GEOD-42154 | biostudies-arrayexpress
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