• Congenital sucrase-isomaltase deficiency (CSID), also called genetic sucrase-isomaltase deficiency (GSID), and sucrose intolerance, is a genetic, intestinal disorder that is caused by a reduction or absence of sucrase and isomaltase Explanations for GSID include: Mutations C1229Y and F1745C, which are present in the sucrase domain of SI, block SI path to anchor in the cell's aprical membrane but does not impact protein folding or isomaltase activity. (wikipedia.org)
  • A factor that can be attributed to congenital sucrase-isomaltase deficiency is the retention of SI in the cis-Golgi. (wikipedia.org)
  • Carbohydrate intolerances with early onset and genetic cause include congenital sucrase-isomaltase deficiency (CSID), glucose-galactose malabsorption (GGM) and congenital lactase deficiency (CLD). (blueprintgenetics.com)
  • Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). (lu.se)
  • The absence of SI from the brush border membrane or its malfunction is associated with malabsorption disorders such as congenital sucrase-isomaltase deficiency (CSID). (umbc.edu)
  • Mutations in the sucrase-isomaltase gene can lead to the synthesis of transport-incompetent or functionally altered enzyme in congenital sucrase-isomaltase deficiency (CSID) (Naim, H. Y., J. Roth, E. Sterchi, M. Lentze, P. Milla, J. Schmitz, and H. P. Hauri. (silverchair.com)
  • The clinical consequences of sucrase-isomaltase deficiency. (apothekon.com)
  • In contrast, sucrase-isomaltase deficiency , a metabolic disease that prevents infants from digesting a certain sugar, is very rare in most populations but affects about 5-10% of people in Greenland. (genestogenomes.org)
  • Substitution of a cysteine by an arginine at amino acid residue 635 in the isomaltase subunit of SI was present in the cDNA encoding for a patient with CSID. (wikipedia.org)
  • As the tablet coat contains sucrose (41.2 mg), patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase- isomaltase insufficiency should not take Buscopan Tablets. (janusinfo.se)
  • Patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase insufficiency should not take this medicine. (medicines.org.uk)
  • Due to the presence of sucrose and sorbitol, patients with rare hereditary problems of fructose intolerance, glucose-galactose malabsorption or sucrase-isomaltase insufficiency should not take this medicine. (ibnhayyanpharma.com)
  • Research coordinated by Karolinska Institutet have identified a link between defective sucrase-isomaltase gene variants and irritable bowel syndrome. (drugtargetreview.com)
  • The enzyme is anchored in the intestinal brush border membrane by a hydrophobic segment located near the N-terminal of the isomaltase subunit. (wikipedia.org)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Maltase Glucoamylase, Intestinal (MGA) in Tissue homogenates, cell lysates and other biological fluids. (pharmas-eu.org)
  • Description: A sandwich ELISA kit for detection of Maltase Glucoamylase, Intestinal from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (pharmas-eu.org)
  • The rotavirus enterotoxin NSP4 mobilizes intracellular calcium in human intestinal cells by stimulating phospholipase C-mediated inositol 1, 4, 5-trisphosphate production. (ac.ir)
  • However, its activity on human intestinal epithelial cells has not yet been studied. (nutrients.news)
  • Researchers at Federico II University of Naples and La Sapienza University of Rome in Italy examined the effects of pineapple guava extract on the viability, membrane peroxidation, disaccharidase activities and proliferation of in vitro models of human intestinal epithelial cells. (nutrients.news)
  • Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit. (silverchair.com)
  • Our group has demonstrated that the disaccharidase sucrase-isomaltase (S-I), the galactose-binding lectin galactin 3, and the MUC1 mucin DF3 are upregulated at different times during the neoplastic transformation of bowel epithelium. (grantome.com)
  • systematic name oligosaccharide 6-α-glucohydrolase) is a glucosidase enzyme located on the brush border of the small intestine, which catalyses the following reaction: Hydrolysis of (1→6)-α-D-glucosidic linkages in some oligosaccharides produced from starch and glycogen by EC 3.2.1.1 (α-amylase), and in isomaltose It is a dual-function enzyme with two GH31 domains, one serving as the isomaltase, the other as a sucrose alpha-glucosidase. (wikipedia.org)
  • This inability to transport is a result of a glutamine to proline substitution at amino acid residue 1098 of the sucrase subunit. (wikipedia.org)
  • This family includes the following closely related glycosyl hydrolase family 31 (GH31) enzymes: maltase-glucoamylase (MGAM), sucrase-isomaltase (SI), lysosomal acid alpha-glucosidase (GAA), neutral alpha-glucosidase C (GANC), the alpha subunit of neutral alpha-glucosidase AB (GANAB), and alpha-glucosidase II. (umbc.edu)
  • This cleavage produces an isomaltase-like subunit that is transport competent and is correctly sorted to the brush border membrane since it could be localized in the brush border membrane by anti-isomaltase mAb. (silverchair.com)
  • The sucrase subunit is not transported to the cell surface and is most likely degraded intracellularly. (silverchair.com)
  • The first phenotype revealed a sucrase-isomaltase protein that is synthesized as a single chain, mannose-rich polypeptide precursor (pro-SI) and is electrophoretically indistinguishable from pro-SI in normal controls. (silverchair.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Tumor Protein, Translationally Controlled 1 (TPT1) in samples from tissue homogenates, cell lysates, cell culture supernates and other biological fluids with no significant corss-reactivity with analogues from other species. (allelisakits.com)
  • Description: A competitive ELISA for quantitative measurement of Human Translationally controlled tumor protein(TPT1) in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (allelisakits.com)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human G Protein Coupled Estrogen Receptor 1 (GPER) in serum, plasma, tissue homogenates and other biological fluids. (allelisakits.com)
  • Furthermore, a relationship between mutations in sucrase-isomaltase and chronic lymphocytic leukemia (CLL) has been identified. (wikipedia.org)
  • HGMD refers to the number of variants with possible disease association in the gene listed in Human Gene Mutation Database ( HGMD ). (blueprintgenetics.com)
  • We developed human enteroids with different loss-of function MYO5B variants and showed that they recapitulated the structural changes found in native MVID enterocytes. (bvsalud.org)
  • The study found that Greenlandic Inuit have fewer genetic variants overall than other human populations tested so far, but the variants they do carry occur at higher frequencies. (genestogenomes.org)
  • Nevertheless, the increased frequency of certain rare variants compared to other groups could prove a boon for disease association mapping by increasing the statistical power to detect links between gene variants and human diseases. (genestogenomes.org)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Acyloxyacyl Hydrolase (AOAH) in serum, plasma, tissue homogenates, cell lysates and other biological fluids. (master-sistemisanitari-medicinenonconvenzionali.org)
  • Cow's milk proteins introduced with maternal diet can be transferred to the human milk. (medscape.com)
  • In order to predict isomaltose binding in sucrase-isomaltase structure, a model was produced by hand. (wikipedia.org)
  • Before discussing the benefits of supplementation, lets first get an understanding of what digestive enzymes are and how they function in the human body. (drvitaminsolutions.com)
  • Human populations from Africa are the most genetically diverse of all because their ancestors were the source for all other groups that migrated out of Africa to populate the rest of the world. (genestogenomes.org)
  • Pedersen and colleagues show that the Greenlandic Inuit population has recently undergone a prolonged bottleneck of around 20,000 years, making it one of the historically smallest and most isolated human populations. (genestogenomes.org)
  • We found that early in differentiation, mouse, human, and porcine epithelial cells exhibit a marginal accumulation of microvilli, which span junctions and interact with protrusions on neighboring cells using IMAC protocadherins. (bvsalud.org)
  • Many studies have focused on the presence of bovine lactoglobulin throughout human lactation. (medscape.com)
  • Many food proteins can act as antigens in humans. (medscape.com)
  • This domain occurred 7 times on human genes ( 10 proteins). (umbc.edu)
  • The low total lipid contents of adzuki beans is similar to other foods - cereals as rice and rye, and legumes as bean, chick-pea and beans, that have less than 2% of fat, but with the advantage that the fat of the adzuki bean possesses a healthy Polyunsaturated fatty acids (PUFAs) omega-6/omega-3 which are essential fatty acids for human nutrition. (healthjade.com)
  • Scientists have discovered the crystal structure for N-terminal human sucrase-isomaltase (ntSI) in apo form to 3.2 Å and in complex with the inhibitor kotalanol to 2.15 Å resolution. (wikipedia.org)
  • What [HA523 trade name] is and what it is used for [HA523 trade name] is used to treat HIV (human immunodeficiency virus) infection in patients weighing between 2 to 25 kg. (who.int)
  • Despite being covered by a massive, permanent ice sheet, Greenland has been continuously inhabited by humans for over a thousand years. (genestogenomes.org)
  • Sucrase-isomaltase's mechanism results in a net retention of configuration at the anomeric center. (wikipedia.org)
  • There is insufficient information on the excretion of hyoscine butylbromide and its metabolites in human milk. (janusinfo.se)
  • Human patient-derived enteroids represent a model for investigation of monogenic epithelial disorders but are a rare resource from MVID patients. (bvsalud.org)
  • Antinutritional factors are substances that when present in human foods or water reduce the availability of one or more nutrients. (healthjade.com)
  • I need help with a reflection done by some other scientists (on plants or Human body). (smartcustomessays.com)
  • Several animal (rodents) and human studies have demonstrated significant improvement of mineral balance, particularly (Ca++, Mg++) and bone density with inulin. (nwbguardians-store.com)
  • No studies on the effects on human fertility have been conducted. (janusinfo.se)
  • Studies in human pregnancy have shown no ill effects due to paracetamol used in the recommended dosage, but patients should follow the advice of the doctor regarding its use. (ibnhayyanpharma.com)
  • The patterns of genetic variation in any group of organisms, including humans, are closely tied to its size and history. (genestogenomes.org)
  • In order to be human-readable, please install an RSS reader. (mdpi.com)
  • The people who first settled there used their creativity and ingenuity to flourish in a difficult environment, the same way humans have all over the Earth. (genestogenomes.org)
  • In four human subjects given 376.5mg of Activated Dimeticone, twice daily for 10 days, it was found that there was no increase in their urinary silicate output and no evidence of absorption of the silicone. (medicines.org.uk)
  • Rotavirus stimulates release of serotonin (5-HT) from human enterochromaffin cells and activates brain structures involved in nausea and vomiting. (ac.ir)