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GenomicsMutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization
Shprintzen-Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys-Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped t...
EGAS00001004908 | EGA
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
UnknownCopper/N,N-dimethylglycine catalyzed goldberg reactions between aryl bromides and amides, aryl iodides and secondary acyclic amides.
Not available
S-EPMC6271110 | biostudies-literature
ProteomicsMudPIT analysis of HSV-1 infected and mock-infected microsomal membranes and nuclear envelopes
Nuclear envelopes (NEs) and microsomal membranes (MMs) were isolated from HeLa cells infected or not with HSV-1 using well-established procedures as described in: Wilkie GS, et al. (2011) Mol Cell Proteomics 10: M110 003129. Korfali N, et al. (2010) Mol Cell Proteomics 9: 2571-2585. Florens L, Korf...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Herpes Simplex Virus (type 1 / Strain 17) (ncbitaxon:10299) 
2016-07-05 | MSV000079886 | MassIVE
Unknown3,5,3'-Triiodo-L-Thyronine- and 3,5-Diiodo-L-Thyronine- Affected Metabolic Pathways in Liver of LDL Receptor Deficient Mice.
Not available
S-EPMC5112267 | biostudies-literature
UnknownCathepsins L and Z are critical in degrading polyglutamine-containing proteins within lysosomes.
Not available
S-EPMC3366842 | biostudies-literature
UnknownIn-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Not available
S-EPMC3487125 | biostudies-literature
UnknownL-2-hydroxyglutarate regulates centromere and heterochromatin conformation in the male germline.
Not available
S-EPMC12306753 | biostudies-literature
GenomicsDistinct factors control histone variant H3.3 localization at specific genomic regions
The incorporation of histone H3 variants has been implicated in the epigenetic memory of cellular state. Using genome editing with zinc finger nucleases to tag endogenous H3.3, we report genome-wide profiles of H3 variants in mammalian embryonic stem (ES) cells and neuronal precursor cells. Genome-w...
ORGANISM(S): Mus musculus 
2010-03-04 | E-GEOD-16893 | biostudies-arrayexpress
UnknownImmunomodulatory Activity of Polysaccharides Isolated from Saussurea salicifolia L. and Saussurea frolovii Ledeb.
Not available
S-EPMC10536955 | biostudies-literature
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