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Mutations in type I
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The T cell-inflamed tumor microenvironment, characterized by CD8 T cells and type I/II interferon transcripts, is an important cancer immunotherapy biomarker. Tumor mutational burden (TMB) may also dictate response, and some oncogenes (i.e., WNT/β-catenin) are known to mediate immunosuppression.
19p
vibransone
28-03-2024
3
2
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Vacuolar protein sorting-associated protein 4B (VPS4B) is a member of the ATP enzyme AAA protein family, and is mainly involved in protein degradation and cell membrane fusion. Recently, a dominant mutation in this gene was identified in human dentin dysplasia type I (DD-I).
10p
vihagrid
30-01-2023
6
3
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Mutations in the transcription factor, KLF1, are common within certain populations of the world. Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythropoietic Anemia type IV (CDA IV); i.e. an autosomal-dominant disorder characterized by neonatal hemolysis.
12p
visilicon2711
20-08-2021
7
1
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Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2- associated meningiomas remains largely unexamined.
10p
vimale2711
21-08-2020
10
1
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Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype.
3p
virome2711
13-01-2020
9
1
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Osteogenesis imperfecta (OI), commonly known as “brittle bone disease”, is an autosomal dominant disorder characterized by bone fragility and abnormalities in connective tissue. Biochemical and molecular genetic studies have shown that the vast majority of affected individuals have mutations in either the COL1A1 or COL1A2 genes that encode chains of type I procollagen.
7p
quenchua1
04-11-2019
15
0
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Báo cáo Y học: Solution structure of a hydrophobic analogue of the winter flounder antifreeze protein
The solution structure of a synthetic mutant type I antifreeze protein (AFP I) was determined in aqueous solution at pH 7.0 using nuclear magnetic resonance (NMR) spectroscopy. The mutations comprised the replacement of the four Thr residues by Val and the introduction of two additional Lys-Glu salt bridges. The antifreeze activity of this mutant peptide, VVVV2KE, has been previously shown to be similar to that of the wild type protein, HPLC6 (defined here as TTTT).
8p
research12
01-06-2013
33
3
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Integrin a2b1 is the major receptor for collagens in human tissues, being involved in cell adhesion and the control of collagen and collagenase gene expression. The collagen binding site of a2b1 has been localized to the a2 von Willebrand Factor type A (VWFA) domain (A-domain or I-domain) and the residues responsible for the interaction with collagen have been mapped. We report a study of a2 VWFA domain in which residue E318, which lies outside the collagen binding site, is mutated to tryptophan, showing that this is a gain-of-function mutation. ...
9p
research12
01-06-2013
33
3
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Sustainable Event Planning Guide Denver 2008 Convention Host Committee Greening Initiative Fall 2008
The five major NCDs are heart disease, stroke, cancer, chronic respiratory diseases and diabetes. There is strong scientific evidence that healthy diet and adequate physical activity (i.e. ≥30 minutes of moderate intensity physical activity, ≥5 days per week) play an important role in the prevention of these diseases. Furthermore, it is estimated that approximately 80% of heart disease, stroke, type 2 diabetes and 40% of cancers can be prevented through inexpensive and cost-effective interventions that address the primary risk factors. ...
54p
nhacchovina
22-03-2013
54
7
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The eye lens is composed of fiber cells that differentiate from epithelial cells on its anterior surface. In concert with this differentiation, a set of proteins essential for lens function is synthesized, and the cellular organelles are degraded.
16p
galaxyss3
19-03-2013
37
2
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Recurrent missense fibroblast growth factor receptor 3 (FGFR3) mutations have been ascribed to skeletal dysplasias of variable severity including the lethal neonatal thanatophoric dysplasia types I (TDI) and II (TDII). To elucidate the role of activating mutations causing TDI on receptor traffick-ing and endocytosis, a series of four mutants located in different domains of the receptor were generated and transiently expressed.
11p
galaxyss3
19-03-2013
32
2
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Mutations in the alanine-glyoxylate aminotransferase gene (AGXT) are responsible for primary hyperoxaluria type I, a rare disease characterized by excessive hepatic oxalate production that leads to renal failure. A deeper understanding of the changes in the metabolic pathways secondary to the lack of AGXT expression is needed in order to explore substrate depletion as a therapeutic strategy to limit oxalate production in primary hyperoxal-uria type I.
9p
viettel02
19-02-2013
42
1
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What is thrombophilia? Thrombophilia is a condition where the blood forms clots more easily than normal, which can lead to unwanted blood clots in the body. There are different kinds of thrombophilia. What causes thrombophilia? Thrombophilia occurs if the normal balance of the clotting system is upset. There may be too much of a clotting factor, or too little of a factor that opposes clotting.
4p
truongthiuyen1
08-06-2011
39
3
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