Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:6.2.1.1 (ACS)
78,556 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase receptors, fibroblast growth factor receptors. Four genes encoding fibroblast growth factor receptors have been identified, and mutations in three of these, FGFR1, FGFR2, and FGFR3, can cause different congenital, autosomal dominant disorders affecting the craniofacial and skeletal development: craniosynostosis and chondrodysplasias. The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome can be caused by mutation in either FGFR1, FGFR2, or FGFR3. Saethre-Chotzen syndrome can also be caused by mutation in a functionally related gene, ACS. The same mutation can cause different syndromes, and the same syndrome can be caused by mutations in different genes. The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3.
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PMID:[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]. 1157 61

This study highlights cellulose conversion for the production of 5-Hydroxymethyl Furfural using synergistic effect of modified activated carbon and ionic liquid under moderate reaction conditions. Modified Activated carbon after acid treatment (ACS, ACP, ACH) were used to examine their catalytic activity on hydrolysis of cellulose in [Bmim]Cl medium. Changes in physical-chemical properties were characterized using XRD, FE-SEM, EDX, FT-IR and BET surface area analyser techniques. Modified activated carbon is found competent in enhancing cellulose conversion to Total Reducing Sugars and 5-Hydroxymethyl Furfural. Further, the effect of six metal ions i.e Cr+3, Fe+3, Cu+2, Zn+2, K+ and Al+3 impregnated on sulfuric acid treated activated carbon (ACS) was explored. The catalytic performance improves with the impregnation of metals in the decreasing order: Cr+3> Fe+3> Cu+2> Zn+2> Al+3> K+. These modified catalysts with ionic liquid as solvent are found promising to generate eco-friendly system and cost effective cellulose conversion to value added products.
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PMID:Synergistic effect of modified activated carbon and ionic liquid in the conversion of microcrystalline cellulose to 5-Hydroxymethyl Furfural. 3002 78