Gene Section FLT3 (FMS-like tyrosine kinase 3) Atlas of Genetics and Cytogenetics
... the number of new mutations all over the total gene is still growing. ...
... the number of new mutations all over the total gene is still growing. ...
Chronic Myeloid Leukemia
... Pathogenesis: Jak-Stat Pathway • Numerous pathways and substrates are influenced by Bcr-Abl o ...
... Pathogenesis: Jak-Stat Pathway • Numerous pathways and substrates are influenced by Bcr-Abl o ...
Gene Section PHLPP2 (PH domain leucine-rich repeat protein phosphatase 2)
... the PP2C phosphatase domain of PHLPP2 may be involved in breast cancer progression. This SNP, a T>C nucleotide change at base pair position 3047, results in a Leu->Ser amino acid change at position 1016 in the PHLPP2 protein. Heterozygosity at this position is present in approximately 30% of the pop ...
... the PP2C phosphatase domain of PHLPP2 may be involved in breast cancer progression. This SNP, a T>C nucleotide change at base pair position 3047, results in a Leu->Ser amino acid change at position 1016 in the PHLPP2 protein. Heterozygosity at this position is present in approximately 30% of the pop ...
Gene Section BRAF (v-raf murine sarcoma viral oncogene homolog B1)
... black arrows indicate the major phosphorylation sites of the protein. C: Carboxyl-terminal; N: Amino-terminal. ...
... black arrows indicate the major phosphorylation sites of the protein. C: Carboxyl-terminal; N: Amino-terminal. ...
Doc. file
... phosphoryl group of ATP, and their interactions are important for the stabilization of the transition state (Zeng et al., 1996). Both Asp532 and Thr680 are replaced by glutamate and serine in DHK-465, respectively, (Figure 2B and Table 1). Mutations in Gly862 and Gly679 in human HK-1 has a significa ...
... phosphoryl group of ATP, and their interactions are important for the stabilization of the transition state (Zeng et al., 1996). Both Asp532 and Thr680 are replaced by glutamate and serine in DHK-465, respectively, (Figure 2B and Table 1). Mutations in Gly862 and Gly679 in human HK-1 has a significa ...
X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene
... events. The vast majority can be predicted to cause loss of function of the mutant allele. About 57% of mutations result in premature translation termination. Most of the missense mutations affect residues conserved in all known RSK family members from human to C elegans, supporting their pathogenic ...
... events. The vast majority can be predicted to cause loss of function of the mutant allele. About 57% of mutations result in premature translation termination. Most of the missense mutations affect residues conserved in all known RSK family members from human to C elegans, supporting their pathogenic ...
phl_417_tyrosin_kinase_inhibitors
... kinase: the ATP pocket and an adjacent region that is accessible only when the kinase is inactive. Type II inhibitors thus bind and lock kinases in an inactive state. Type II TKIs generally are more potent and more selective than type I although they inhibit 3 kinases. ...
... kinase: the ATP pocket and an adjacent region that is accessible only when the kinase is inactive. Type II inhibitors thus bind and lock kinases in an inactive state. Type II TKIs generally are more potent and more selective than type I although they inhibit 3 kinases. ...
Gene Section MAPK13 (mitogen activated protein kinase 13) -
... Activation of exogenously expressed p38delta by differentiation-inducing agents such as a bioactive green tea polyphenol (EGCG), okadaic acid (OA) or the phorbol ester TPA, correlated with increased involucrin promoter activity in keratinocytes via increased activity at AP1, Sp1 and C/EBP sites (Bal ...
... Activation of exogenously expressed p38delta by differentiation-inducing agents such as a bioactive green tea polyphenol (EGCG), okadaic acid (OA) or the phorbol ester TPA, correlated with increased involucrin promoter activity in keratinocytes via increased activity at AP1, Sp1 and C/EBP sites (Bal ...
Document
... Formal analysis of “heterozygote advantage”: Let s = the increased fraction of offspring that are produced by the CF heterozygote; but 0 = the number of offspring produced by the CF homozygote. p = the fraction of the population with CF chromosomes (~ 0.05) ( p << 1; it’s hard to imagine a mechanis ...
... Formal analysis of “heterozygote advantage”: Let s = the increased fraction of offspring that are produced by the CF heterozygote; but 0 = the number of offspring produced by the CF homozygote. p = the fraction of the population with CF chromosomes (~ 0.05) ( p << 1; it’s hard to imagine a mechanis ...
Gene Section DUSP10 (dual specificity phosphatase 10) Atlas of Genetics and Cytogenetics
... SE, Kim SJ. Crystal structure of the catalytic domain of human MAP kinase phosphatase 5: structural insight into constitutively active phosphatase. J Mol Biol. 2006 Jul 28;360(5):946-55 ...
... SE, Kim SJ. Crystal structure of the catalytic domain of human MAP kinase phosphatase 5: structural insight into constitutively active phosphatase. J Mol Biol. 2006 Jul 28;360(5):946-55 ...
Gene Section PRKAR1A (protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific
... PRKARIA is frequently affected by bi-allelic inactivation in tumors of CNC patients. However 1 kindred was described where a splice site mutation led to exon 6 skipping and an expressed shorter PRKAR1A protein. The mutant protein was present in patients' leukocytes and tumors, and in vitro studies i ...
... PRKARIA is frequently affected by bi-allelic inactivation in tumors of CNC patients. However 1 kindred was described where a splice site mutation led to exon 6 skipping and an expressed shorter PRKAR1A protein. The mutant protein was present in patients' leukocytes and tumors, and in vitro studies i ...
Gene Section ALK (anaplastic lymphoma kinase) Atlas of Genetics and Cytogenetics
... t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase. Oncogene 1997 May 8; 14(18):2175-88. Erratum in Oncogene 1997 Dec 4; 15(23):2883. Bischof D, Pulford K, Mason DY, Morris SW. Role of the nucleophosmin (NPM) portion ...
... t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase. Oncogene 1997 May 8; 14(18):2175-88. Erratum in Oncogene 1997 Dec 4; 15(23):2883. Bischof D, Pulford K, Mason DY, Morris SW. Role of the nucleophosmin (NPM) portion ...
PowerPoint - Oregon State University
... Previous researchers in the Mathews Lab have discovered enlargement of dCTP by twentyfold as well as increases in CTP, and dGTP pools in the NDP kinase absence E-coli cells. How are we sure that pool imbalances were caused by NDP kinase abnormalities and not by loss of protein-protein interaction re ...
... Previous researchers in the Mathews Lab have discovered enlargement of dCTP by twentyfold as well as increases in CTP, and dGTP pools in the NDP kinase absence E-coli cells. How are we sure that pool imbalances were caused by NDP kinase abnormalities and not by loss of protein-protein interaction re ...
Gene Section STK11 (serine/threonine kinase 11) Atlas of Genetics and Cytogenetics
... remaining allele is later inactivated generally by LOH or sometimes somatic mutation. This biallelic inactivation of STK11 leads to a loss of tumour suppressor activity, thereby promoting tumourigenesis. ...
... remaining allele is later inactivated generally by LOH or sometimes somatic mutation. This biallelic inactivation of STK11 leads to a loss of tumour suppressor activity, thereby promoting tumourigenesis. ...
Leukaemia Section t(2;5)(p23;q35) SQSTM1/A LK Atlas of Genetics and Cytogenetics
... an intracellular region (composed of a tyrosine kinase domain). Membrane receptor tyrosine kinase. Germinal mutations In familial neuroblastoma. Somatic mutations Fusion proteins in anaplastic large cell lymphoma, some diffuse large B-cell lymphomas, inflammatory myofibroblastic tumours, and some no ...
... an intracellular region (composed of a tyrosine kinase domain). Membrane receptor tyrosine kinase. Germinal mutations In familial neuroblastoma. Somatic mutations Fusion proteins in anaplastic large cell lymphoma, some diffuse large B-cell lymphomas, inflammatory myofibroblastic tumours, and some no ...
Solid Tumour Section Thyroid: Papillary carcinoma with inv(7)(q21q34) in Oncology and Haematology
... tumor of thyroid follicular cell origin and is the most common thyroid malignancy, constituting about 80% of all cases. The only known etiologic factor for this type of tumor is exposure to ionizing radiation, although the history of radiation exposure is found in less than 10% of all cases. In the ...
... tumor of thyroid follicular cell origin and is the most common thyroid malignancy, constituting about 80% of all cases. The only known etiologic factor for this type of tumor is exposure to ionizing radiation, although the history of radiation exposure is found in less than 10% of all cases. In the ...
Gene Section MAP2K4 (mitogen activated protein kinase kinase 4) -
... Genomic studies have identified somatic mutations in the MAP2K4 gene in a total of 11 human cancer tumours (3% of the 356 tumours evaluated). These mutations are located primarily in the kinase domain. The mutations include frameshift, nonsense, and missense mutations and occur in colorectal, nonsma ...
... Genomic studies have identified somatic mutations in the MAP2K4 gene in a total of 11 human cancer tumours (3% of the 356 tumours evaluated). These mutations are located primarily in the kinase domain. The mutations include frameshift, nonsense, and missense mutations and occur in colorectal, nonsma ...
Somatic BRAF Mutation - Lynch Syndrome Screening Network
... BRAF encodes a protein belonging to the raf/mil family of serine/threonine protein kinases and plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion (1). The most common B-RAF mutation, a Thymidine to Adenosine transversion, con ...
... BRAF encodes a protein belonging to the raf/mil family of serine/threonine protein kinases and plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion (1). The most common B-RAF mutation, a Thymidine to Adenosine transversion, con ...
Leukaemia Section t(12;15)(p13;q25) Atlas of Genetics and Cytogenetics in Oncology and Haematology
... Encodes a fusion protein with the sterile alpha motif (SAM) oligomerization domain of ETV6 in N-term to the C- term protein tyrosine kinase (PTK) domain of NTRK3. Oncogenesis Functions as a constitutively active tyrosine kinase. ETV6-NTRK3 is capable of homodimerization, or heterodimerization with E ...
... Encodes a fusion protein with the sterile alpha motif (SAM) oligomerization domain of ETV6 in N-term to the C- term protein tyrosine kinase (PTK) domain of NTRK3. Oncogenesis Functions as a constitutively active tyrosine kinase. ETV6-NTRK3 is capable of homodimerization, or heterodimerization with E ...
Gene Section AKT3 (v-akt murine thymoma viral oncogene
... Note: Location in the mouse: chromosome 1 in band H4-H6. ...
... Note: Location in the mouse: chromosome 1 in band H4-H6. ...
Gene Section WNK2 (WNK lysine deficient protein kinase 2)
... The catalytic domain of WNK2 is 90% identical to WNK1, 91% identical to WNK3 and 81% identical to WNK4. The remaining sequence of WNK2 has little homology to other WNK members except for three small WNK homology regions (Holden et al., 2004; Moniz et al., 2007). These include an acidic motif (residu ...
... The catalytic domain of WNK2 is 90% identical to WNK1, 91% identical to WNK3 and 81% identical to WNK4. The remaining sequence of WNK2 has little homology to other WNK members except for three small WNK homology regions (Holden et al., 2004; Moniz et al., 2007). These include an acidic motif (residu ...
Leukaemia Section t(9;12)(q22;p12) Atlas of Genetics and Cytogenetics in Oncology and Haematology
... Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H. Constitutive kinase activation of the TELSyk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12). Blood. 2001 Feb 15;97(4):1050-5 This article should be referenced as such: Huret JL. t(9;12)(q22;p12). Atlas Genet Cy ...
... Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H. Constitutive kinase activation of the TELSyk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12). Blood. 2001 Feb 15;97(4):1050-5 This article should be referenced as such: Huret JL. t(9;12)(q22;p12). Atlas Genet Cy ...
How do we determine a genes function?
... Site-Directed Mutagenesis Involves Specific Base-pair changes in a DNA sequence. Can be done in several ways: PCR mediated Vector mediated ...
... Site-Directed Mutagenesis Involves Specific Base-pair changes in a DNA sequence. Can be done in several ways: PCR mediated Vector mediated ...
BRAF (gene)
BRAF is a human gene that makes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.The B-Raf protein is involved in sending signals inside cells, which are involved in directing cell growth. In 2002, it was shown to be faulty (mutated) in some human cancers.Certain other inherited BRAF mutations cause birth defects.Drugs that treat cancers driven by BRAF mutations have been developed. Two of these drugs, vemurafenib and dabrafenib are approved by FDA for treatment of late-stage melanoma. Vemurafenib was the first drug to come out of fragment-based drug discovery.