Mutations in ras genes genes ras. Medical search. Frequent questions

There are three Ras genes that generate four almost identical proteins: HRAS, NRAS, KRAS4A and KRAS4B [ 2 ]. (nature.com)
How does a family of Ras proteins that share a common set of activators and effectors generate isoform-specific engagement with cancer-associated signaling networks? (nature.com)
The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. (nih.gov)
The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. (nih.gov)
This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. (nih.gov)
However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. (nih.gov)
Increasingly, mutations in genes that encode postsynaptic proteins belonging to the PSD-95 protein complex, continue to be identified in neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability and epilepsy. (nih.gov)
8 9 This lack of an absolute phenotype:genotype concordance could be attributed to incomplete screening of the p53 gene, inactivation of the p53 protein through interaction with other cellular proteins or viruses, or defects in other genes involved in p53 mediated cell cycle regulatory pathways. (bmj.com)
The RAS family of proteins have a unique role. (bigthink.com)
As RAS is activated by incoming signals, it turns on other proteins and genes involved in cell development and cell differentiation. (bigthink.com)
Instead, the protein product of K-Ras activates a complex cascade of other proteins to ultimately lead to cellular changes. (pancan.org)
One of the key proteins activated by K-Ras is called MEK. (pancan.org)
Six proto-oncogenes (K-ras, c-myc, c-fos, c-jun, c-sis, and erbB), as well as the p53 tumor suppressor, were investigated for gene amplification using differential polymerase chain reaction (PCR), while the expression of the proteins produced by these genes was evaluated by Western blot analysis. (cdc.gov)
There were no point mutations observed in codons 12, 13, and 61 of K-ras or in exons 4-10 of p53 and no observed differences in the levels of any of the proteins studied. (cdc.gov)
RAF genes encode serine and threonine kinase proteins downstream of Ras in the pathway. (news-medical.net)
The finding of mutations in GJB3 , GJB4 , and GJA1 suggests that the clinical manifestations of EKVP are caused by impaired gap junctional intercellular communication or hemichannel function owing to a dominant effect of mutant gap junction proteins. (medscape.com)

Here's how some common mutations affect the way your cancer grows, and who's likely to get them. (webmd.com)
The most common mutations are those in MLH1 and MSH2 . (cmaj.ca)
Mutations in the three closely related ras genes, H-ras, K-ras, and N-ras, are among the most common mutations found in human cancer, reaching 50% in some types of tumors, such as colorectal carcinoma. (cyberessays.com)
Thirty percent to 40% of patients with DRD do not show the common mutations. (medscape.com)

In this study we examined the relationship of CD44 expression to somatic genetic events in the adenoma-carcinoma sequence: point mutation of K-ras in codons 12 and 13 and overexpression of p53 protein as a marker of gene mutation. (johnshopkins.edu)
13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
These mutations are usually somatic (only within the involved tissues, not in the blood or germ cells and therefore, not heritable) and tend to cluster in the VEGF-PIK3CA and RAS-MAP signaling pathways. (medscape.com)

Emeagwali later became engaged in cancer research and her most prominent contribution in the field came while working with the ras oncogene, the mutated form of the ras gene. (blackpast.org)
Emeagwali along with her collaborators revealed that ras oncogene activity can be subdued via antisense methodology. (blackpast.org)
These mutations can also cause cancer, making BRAF an oncogene. (news-medical.net)

They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (hopkinsmedicine.org)
Paraffin-embedded tumor samples from diagnostic biopsies, from tumor en bloc resection tissue after neoadjuvant chemotherapy, and samples from metastases were examined in search of point mutations in H, K, and N-ras genes at codons 12 and 61 by means of polymerase chain reaction (PCR), slot-blotting, and radioactive labeled specific DNA probes. (cun.es)
These findings suggest that the activation by point mutations at codons 12 and 61 of the H, K, and N-ras genes does not play a role in the pathogenesis of human osteosarcoma. (cun.es)
Since no point mutations in codons 12 and 61 were detected, it was not possible to establish any correlation between the ras genes and clinical or histologic findings. (cun.es)

On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. (nih.gov)
It is now quite common to identify a germline mutation in one of the mismatch repair genes. (cmaj.ca)
4 Microsatellite instability testing and immunohistochemistry are useful tools to determine whether a patient is a candidate for testing for mutations in the mismatch repair genes. (cmaj.ca)

Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (hopkinsmedicine.org)
KRAS mutations occurred at higher frequency in gastrointestinal tumors, lung cancers and gynecologic malignancies, while NRAS was more frequently mutated in melanoma, thyroid cancer and hematologic malignancies. (hopkinsmedicine.org)
Diving deeper, the investigators found that non-small cell lung cancers primarily harbored KRAS G12C mutations, whereas these mutations were harbored in about 10% of colorectal cancers and 1% of pancreatic cancers. (hopkinsmedicine.org)
However, for reasons that remain unclear, KRAS is far more frequently mutated than the other Ras isoforms in cancer and RASopathies. (nature.com)
Finally, direct measurement of mutant versus wildtype KRAS protein abundance revealed a frequent imbalance that may suggest additional non-gene duplication mechanisms for optimizing oncogenic Ras dosage. (nature.com)
76% of Ras-mutant cancer patients harbor KRAS mutations versus only 7% with HRAS mutations [ 1 ]. (nature.com)
KRAS mRNA represents 70-99% of all Ras transcripts in mouse tissues [ 20 ]. (nature.com)
In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. (nih.gov)
The KRAS gene plays a role in making a protein called K-Ras, which helps cells grow and divide. (webmd.com)
You're more likely to have a KRAS mutation if you have the adenocarcinoma type of NSCLC. (webmd.com)
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. (lu.se)

In the last few years, it has become clear that activation events associated with FGFR-3 can be found associated with 40%-60% of low-grade, low-stage bladder tumors whilst p53 mutations are linked to a more aggressive phenotype progressing via the CIS pathway. (centerwatch.com)
To date, dysregulation in the RAS pathway have been linked to debilitating disorders like autism, cancer, Noonan syndrome, Costello syndrome and Neurofibromatosis. (bigthink.com)
They have some overlapping symptoms as well as mutations of genes within the RAS signaling pathway. (bigthink.com)
Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
Most JMML cases have mutations that hyperactivate the Ras signalling pathway. (b-s-h.org.uk)
B-Raf is a protein encoded by the BRAF gene and is involved in the RAS/MAPK pathway, which regulates cellular growth and division. (news-medical.net)
The corresponding genes for the DFS-SEs were significantly enriched in mitochondria and their associated pathways according to Gene Ontology annotation and in the pathways of fatty acid metabolism, oxidative phosphorylation and Huntington's disease according to a Kyoto Encyclopedia of Genes and Genomes pathway analysis. (spandidos-publications.com)

This is currently best expressed in the Ras "sweet-spot" model that suggests that Ras dosage (expression and signaling strength imparted by specific mutations) will be a major factor in influencing the availability of individual Ras family members to engage cancer pathways [ 4 ]. (nature.com)
There are new drugs, called targeted therapy, that zero in on the specific mutations you have. (webmd.com)

Researchers at the Johns Hopkins Kimmel Cancer Center , three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (hopkinsmedicine.org)
Prevalence of the RAS mutations varied among cancer types - 74% in pancreatic cancers, 43.5% in colorectal cancers, 29.7% in non-small cell lung cancers, 25.3% in melanoma, 20.9% in cancer of unknown primary origin, 5.9% in precancerous blood and bone marrow diseases (myelodysplastic/myeloproliferative syndrome), and 1.5% in central nervous system tumors. (hopkinsmedicine.org)
Advances in molecular genetics, particularly in the identification of cancer-causing mutations in germ cells, have made it possible to establish whether patients are at high risk of hereditary cancers. (cmaj.ca)
Why are there hot spot mutations in the p53 gene in human cancers? (cinj.org)
These cancers are often associated with mutations in additional genes related to melanoma risk, such as the BRAF and CDKN2A genes. (medlineplus.gov)
BRAF mutations are found in more than 80 percent of melanomas, but only 1-3 percent of lung cancers. (news-medical.net)
However, unlike the clonal expansion seen in cancers, most vascular malformations will express pathogenic mutations in less than 20% of vascular endothelium within a malformation. (medscape.com)
BRAF in melanoma) but whether F1CDx offers benefit beyond current testing of a handful of actionable genes in specific cancers. (medscape.com)

Neoplastic progression of colorectal epithelial cells from benign adenomas to malignant carcinomas appears to result from a series of genetic alterations involving both oncogenes and tumor suppressor genes. (johnshopkins.edu)
The purpose of this study was to assess the extent of involvement of ras oncogenes in osteosarcoma. (cun.es)

The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
In human carcinomas, mutations that alter tumour genes such as the K RAS , P53 , or APC genes, are mostly point mutations. (degruyter.com)
The detection of mutant alleles of tumour genes in specimens such as urine, pancreatic juice, sputum, and stool holds great promise for an early diagnosis of cancer. (degruyter.com)
In addition, the detection of mutant tumour genes in tissue samples, such as lymph nodes or resection margins, may allow a sensitive diagnosis of residual malignant disease. (degruyter.com)
In the present communication, a new approach is described which makes possible the detection of unknown point mutations in tumour genes at excess of wild type alleles. (degruyter.com)

E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
However, many Japanese authors have reported flat or depressed type colorectal tumours, and state that these lesions are de novo carcinomas as they are not associated with adenomatous components, 7-10 and that the incidence of K-ras mutation is low. (bmj.com)
Mutations of the K-Ras gene occur in over 90% of pancreatic carcinomas. (cyberessays.com)
Point mutations of BRAF, are present in over 60 percent of melanomas and have been found at lower rates in lung, colon, and ovarian carcinomas. (news-medical.net)
p53 immunohistochemistry (IHC) has been proposed as a surrogate for TP53 mutations in penile squamous cell carcinomas (PSCC). (bvsalud.org)

Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
In contrast to the ATM mutation pattern in AT, the most frequent nucleotide changes in these sporadic lymphoid malignancies were missense mutations. (bmj.com)
The presence of missense mutations in the germline of patients with B-CLL has been reported, suggesting that some patients with B-CLL may be constitutional AT heterozygotes. (bmj.com)
This gene in humans contains 6 exons, and various mutations (missense, frameshift, base insertions, base deletions) have been described. (medscape.com)
Approximately two thirds of cases of EKVP are caused by heterozygous missense variants in the connexin genes GJB3 , encoding connexin-31 (Cx31), and GJB4 , encoding connexin-30.3 (Cx30.3). (medscape.com)
In rare cases, pathogenic missense changes in the GJA1 gene encoding connexin-43 (Cx43) have been reported. (medscape.com)
A novel PTPN11 missense mutation in a patient with LEOPARD syndrome. (lu.se)
Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. (lu.se)

These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
3 , 4 The ATM gene is located at 11q22-23, spans 184 kb of genomic DNA, and has 66 exons. (bmj.com)

The work, published Sept. 8 in Cancer Research , focused on analyses of targeted next-generation sequence data of more than 600,000 mutations from more than 66,000 tumors in 51 cancer types from the AACR (American Association for Cancer Research) Project GENIE (Genomics Evidence Neoplasia Information Exchange) registry, which pools next-generation sequence data from multiple academic institutions. (hopkinsmedicine.org)
When treating patients who have RAS-mutant tumors, clinicians must consider clinical outcomes and the tumor's aggressiveness as well as co-mutations and patient characteristics such as gender, racial background and age, Anagnostou says. (hopkinsmedicine.org)
Our study shows that you need to consider who the host is and what the genetic makeup is of the tumor, because RAS-mutant tumors with different co-mutations have completely different profiles and clinical behavior. (hopkinsmedicine.org)
The vast majority (about 90 percent) of pancreatic tumors have mutations in the K-Ras gene. (pancan.org)
These genes and pathways will be familiar to any oncologist who cares for patients with solid tumors, notably breast cancer or melanoma. (medscape.com)

Son of sevenless homologue 1 (SOS1) is a guanine nucleotide exchange factor that catalyzes the exchange of GDP for GTP on RAS. (rcsb.org)
Using structure-guided design, we discovered small molecules that increase nucleotide exchange on RAS in vitro at submicromolar concentrations, bind to SOS1 with low double-digit nanomolar affinity, rapidly enhance cellular RAS-GTP levels, and invoke biphasic signaling changes in phosphorylation of ERK 1/2. (rcsb.org)
Approach for targeting Ras with small molecules that activate SOS-mediated nucleotide exchange. (rcsb.org)
After analyzing 357 single nucleotide polymorphisms (SNPs) from 83 candidate genes, the authors found that men carrying a GG genotype in the SRD5A1 gene at locus rs472402 had a 55 percent risk reduction in developing high-grade prostate cancer when taking finasteride. (aacr.org)
To investigate the in vitro effects of suicide gene therapy system of herpes simplex virus thymidine kinase gene (HSV-TK) in combination with the treatment of nucleotide analog-ganciclovir (GCV) on human pancreatic cancer, and to provide a novel clinical therapeutic method for human pancreatic cancer. (wjgnet.com)
Guo JY, Teng X, Laddha SV, Ma S, Van Nostrand SC, Yang Y, Khor S, Chan CS , Rabinowitz JD, White E. Autophagy provides metabolic substrates to maintain energy charge and nucleotide pools in Ras-driven lung cancer cells. (cinj.org)
The most common BRAF mutation leading to cancer is substitution of adenine for thymine at nucleotide 1799. (news-medical.net)
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. (lu.se)

Your doctor may also mention mutations on the AKT, PTEN, or mTOR genes, which are linked to PIK3CA. (webmd.com)

With regard to BH4 deficiencies, more than 190 different mutant alleles or molecular lesions have been identified, including in the genes for guanosine triphosphate cyclohydrolase (GCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), and dihydropteridine reductase (DHPR). (medscape.com)

Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. (medscape.com)
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. (medscape.com)
In conclusions, the pattern-based framework improves the accuracy of detecting TP53 mutations in PSCC compared to the classical p53 IHC evaluation. (bvsalud.org)

The mutation to serine is quite unusual in pancreatic cancer, a peculiar finding since it is a common mutation in other tumor types which have K-ras mutations. (cyberessays.com)

Now researchers report that downstream genes affected by such mutations act synergistically to further promote cancer progression, according to a study published online in linkurl:Nature;http://www.nature.com/nature/index.html on Sunday (May 25). (the-scientist.com)

There are three human RAF genes: ARAF, CRAF-1, and BRAF. (news-medical.net)
Mutations of the BRAF gene can cause certain inherited diseases and birth defects. (news-medical.net)
There are over 30 mutations of BRAF that have been connected to cancer. (news-medical.net)
For instance, BRAF in melanoma, ROS1, ALKr, EGFR in non-small-cell lung cancer (NSCLC), extended spectrum RAS in colon cancer, BRCA in ovarian cancer, and many other mutations are tested daily. (medscape.com)

In view of the comparable biological and phenotypic features of p53 and p16 INK4a inactivation, we proposed that germline inactivation of the p16 INK4a gene could account for the predisposition to cancer development in a proportion of LFS families that harboured wild type p53 . (bmj.com)
The association between mutation of the ATM gene and a high incidence of lymphoid malignancy in patients with AT, together with the development of lymphoma in Atm deficient mice, supports the proposal that inactivation of the ATM gene may be of importance in the pathogenesis of sporadic lymphoid malignancy. (bmj.com)
Most mutations in genes are expected to cause their inactivation, however, in the Ras genes the opposite happens - they become more active in signaling. (cyberessays.com)
however, the possible mechanism of carcinogenesis with regards to the activation and inactivation of cancer-related genes has not yet been fully elucidated. (cdc.gov)

This work generated a comprehensive atlas of both co-occurring and mutually exclusive mutations among RAS and other genes at an unprecedented resolution. (hopkinsmedicine.org)

Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. (lu.se)
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia. (cancercentrum.se)

Sensitivity and predictive value of criteria for p53 germline mutation screening. (medscape.com)

Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)

Although most hereditary cancer syndromes have an autosomal dominant inheritance pattern, MYH mutations are autosomal recessive, which means that a mutation must occur in both alleles of the gene in order for disease to develop. (cmaj.ca)
2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
lilli mutations disrupt the transvection-dependent dpp phenotype and are also dominant maternal enhancers of recessive embryonic lethal alleles of dpp and screw . (sdbonline.org)

A point mutation in the gene for TH has been shown to result in autosomal-recessive DRD. (medscape.com)
Point mutation in the gene for SR has been detected in patients who have autosomal-recessive DRD. (medscape.com)
Some of these coding region mutation-negative cases may represent autosomal-recessive, TH-deficient DRD, while others are apparently sporadic. (medscape.com)

In its active form, GTP-bound RAS is responsible for numerous critical cellular processes. (rcsb.org)
A normal functioning ras gene plays a pivotal role in the life of cells in regards to cellular signaling and growth. (blackpast.org)

At the most fundamental level it must relate to the opportunity and capacity of each Ras isoform to interact with and activate key effector pathways. (nature.com)
Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. (nih.gov)
1995). At the time of publication there was limited knowledge of molecular changes underlying the different clinical pathways outlined above and our assay was based on one gene (c-H-ras-1). (centerwatch.com)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Coding genes expressed in association with MALAT1 in CLL were predominantly related to oncogenic pathways stimulated in the lymph node (LN) microenvironment. (bvsalud.org)

Many cases of GCH1 gene mutation negative have been discovered to harbor exon deletions in the GCH gene. (medscape.com)

Although the cause of a vascular malformation is not always known, a wide range of genetic mutations thought to be pathogenic have been reported. (medscape.com)
Recently, vascular anomalists have begun to repurpose drugs from adult oncology that specifically target pathogenic mutations. (medscape.com)
Genome wide analysis of pathogenic SH2 domain mutations. (lu.se)

This mutation, at the Gln 381 Lys locus in the tyrosine gene, results in TH activity that is only 15% of normal,[7] with a resultant decrease in dopamine production. (medscape.com)

In addition to a deletion in chromosome 15 that removes one copy of the OCA2 gene, these individuals have a variant (also known as a mutation) in the OCA2 gene on the other copy of chromosome 15. (medlineplus.gov)
The most common OCA2 variant is a large deletion in the gene, which is found in many affected individuals of sub-Saharan African heritage. (medlineplus.gov)
Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. (medlineplus.gov)

He will accomplish this by systematically turning off the expression of various genes in pancreatic cancer cells, in the presence of MEK inhibition, and then identifying which combination (or combinations) is toxic to the cells. (pancan.org)

Led by Robert Scharpf, Ph.D. , associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, the team developed novel analytical frameworks to assess the prevalence and co-mutation patterns of RAS genes in the AACR Project GENIE registry. (hopkinsmedicine.org)
Mutations in p53 and Ras changed the expression patterns of 548 genes. (the-scientist.com)
Oral squamous cell carcinoma gene patterns connected with RNA methylation for prognostic prediction. (cdc.gov)

Combined impacts of histamine receptor H1 gene polymorphisms and an environmental carcinogen on the susceptibility to and progression of oral squamous cell carcinoma. (cdc.gov)
Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. (medscape.com)

However, in this case the genetic test found, unexpectedly, a fusion involving the FLT3 gene. (b-s-h.org.uk)
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. (lu.se)

Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)

4 - 7 The ATM gene encodes a nuclear phosphoprotein of approximately 350 kDa (3056 amino acids) and is ubiquitously expressed. (bmj.com)
Ras mutations involve only certain amino acids, those which interfere with the GTPase function. (cyberessays.com)

The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)

The coexistence of adenomatous and cancerous components and sequential genetic alterations such as K-ras and p53 suggest that adenoma is a precursor of cancer. (bmj.com)

During the study, researchers examined several characteristics of the RAS genes. (hopkinsmedicine.org)
The researchers then looked for the subset of those genes that acted synergistically -- whose response to the both mutations was more than the sum of their response to Ras or p53 alone. (the-scientist.com)
Researchers are working all the time to look for new kinds of gene mutations. (webmd.com)
Researchers across the globe are trying to understand RAS (and its associated gene)-and how and why it can hold such power over development. (bigthink.com)
Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also contribute to a person's hair and skin coloring. (medlineplus.gov)

Lower levels of expression will influence relative activity and be insufficient to initiate tumorigenesis, whilst too much Ras will induce oncogenic stress. (nature.com)
So Land and colleagues examined the changes in genes regulated by two known linkurl:oncogenic genes,;http://www.the-scientist.com/news/display/43281/ p53 and Ras. (the-scientist.com)
Oncogenic mutations or abnormal expression of signaling components disrupt the regulatory networks that govern cell function, thus enabling tumor cells to undergo dysregulated mitogenesis, to resist apoptosis, and to promote invasion to neighboring tissues. (eurekaselect.com)

In this study, amplification, expression, and point mutation of cancer-related genes associated with Cd-induced cell transformation in BALB/c-3T3 cells were studied. (cdc.gov)

NRAS»HRAS protein expression in cells that correlate with the rank order of Ras mutation frequencies in cancer. (nature.com)
We suggest that in most cases, being the most abundant Ras isoform correlates with occupying the sweet-spot and that HRAS and NRAS expression is usually insufficient to promote oncogenesis when mutated. (nature.com)

The frequent expression of CD44 prior to K-ras and p53 gene alterations in colorectal neoplasia suggests that activation of CD44 gene expression is related to earlier events in the adenoma-carcinoma sequence, possibly cell activation and proliferation following APC gene mutation or alteration of DNA methylation. (johnshopkins.edu)
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL). (bmj.com)
however, RAS mutations are rare in breast cancer, despite frequent hyperactivation of Ras and ERK. (harvard.edu)

The OCA2 gene is located in a region of chromosome 15 that is often deleted in individuals with Angelman syndrome. (medlineplus.gov)
The gene for the enzyme tyrosinase has been localized to chromosome 11. (medscape.com)
The P gene has been mapped to chromosome 15 and is more commonly linked with albinism in patients of African descent. (medscape.com)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)

1 In this review, we use Lynch syndrome as an example for the diagnosis, testing of germ cells for mutations, surveillance and management of hereditary colorectal cancer. (cmaj.ca)
That mutation has been found in papillary thyroid carcinoma, colorectal cancer, melanoma, and non-small cell lung cancer. (news-medical.net)

Variants in the OCA2 gene disrupt the normal production of melanin, which reduces coloring of the hair, skin, and eyes and affects vision. (medlineplus.gov)

Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (cancerindex.org)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)

Here, by using genetically engineered mice and innovative touchscreen-based cognitive testing, we sought to investigate whether loss-of-function mutations in genes encoding key interactors of the PSD-95 protein complex display shared phenotypes in associative learning, updating of learned associations and reaction times. (nih.gov)
These data provide insights for understanding how human mutations in these genes lead to the manifestation of diverse and complex phenotypes in NDDs. (nih.gov)
These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)

Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)

The ras signal is turned off by a molecular switch, which depends on an enzyme activity. (cyberessays.com)

Integrative analysis of lysine acetylation-related genes and identification of a novel prognostic model for oral squamous cell carcinoma. (cdc.gov)

In contrast to the early expression of CD44 in small adenomas, mutations of K-ras and p53 were detected preferentially in large adenomas and late-stage adenomas containing carcinoma. (johnshopkins.edu)
These sporadic cases may be explained by either incomplete penetrance/expression of GCH1 gene mutations or by de novo mutations or deletions in the gene. (medscape.com)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
MSI2 knockdown decreased the expression of genes related to apoptosis and stem cell features and significantly reduced clonogenic growth, tumor cell survival and chemoresistance in MCL cells. (bvsalud.org)

Ras genes are mutated in ~20% of all human cancer cases [ 1 ]. (nature.com)
Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). (nih.gov)
Our data demonstrate that HSV-TK/GCV suicide gene therapy system is effective for treating experimental human pancreatic cancer, which is largely resistant to the common therapies, so the suicide gene therapy system may be a potential treatment approach for pancreatic cancer. (wjgnet.com)

These mutations result in markedly reduced GCH values (2-20%), with a resultant decrease in dopamine content. (medscape.com)

CD44 was absent in the other 2 small adenomas positive for K-ras mutation or p53 overexpression. (johnshopkins.edu)
A number of mutations have been found at this locus, which can result in an absent or defective tyrosinase enzyme. (medscape.com)

The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)

If you have non-small-cell lung cancer (NSCLC), your disease began with changes to your genes. (webmd.com)
These changes, called "mutations," cause your lung cells to grow out of control. (webmd.com)
In lung cancer, mutations usually aren't inherited. (webmd.com)
In a small portion of lung cancer cases, these acquired gene mutations are just random things that happen. (webmd.com)
The type of gene mutation you have often depends on what kind of lung cancer you have. (webmd.com)
Anyone can get a gene mutation that causes lung cancer. (webmd.com)

No point mutations activating these genes were found. (cun.es)
Mutations found in the c-H-ras-1 gene can straddle both of these groups. (centerwatch.com)
Mutations were found at different frequencies depending on patient age, sex and gender. (news-medical.net)
Among 10 Cd-induced transformed cell lines, significant gene amplification was found for c-myc and c-jun in 50% and 80% of the cell lines, respectively. (cdc.gov)

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. (medscape.com)

Inhibition of the kinase domain is halted through binding of the Ras-binding domain, or residues 155-227 of the protein, to the Ras-GTP effector domain. (news-medical.net)

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. (nih.gov)

It appears that the protein encoded by this gene transports and recycles metabolic byproducts. (rxlist.com)
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. (cancerindex.org)

Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. (nih.gov)
Certain variations in the MC1R gene increase the risk of developing melanoma, a type of skin cancer that begins in melanocytes. (medlineplus.gov)
Studies suggest that other variations in the MC1R gene may also increase the risk of developing melanoma in the absence of UV radiation-related skin damage. (medlineplus.gov)

Anatomy13

Organisms17

Diseases20

Chemicals and Drugs87

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Phenomena and Processes94

Disciplines and Occupations1

Information Science3

Named Groups1

Health Care4

Proteins16

Common mutations4

Somatic4

Oncogene3

Codons4

Mismatch repair genes3

KRAS11

Pathway7

Specific mutations2

Cancers8

Oncogenes2

Tumour5

Carcinomas5

Missense8

Exons2

Tumors5

Nucleotide8

PTEN1

Mutant alleles1

TP53 Mutations3

Tumor types1

Downstream1

BRAF4

Inactivation4

Mutually exclusive1

Acute lymphobl4

Germline mutation1

Pediatric1

Alleles3

Autosomal recessive3

Cellular2

Pathways5

Harbor1

Pathogenic3

Tyrosine1

Deletion3

Pancreatic cancer cells1

Patterns3

Progression2

Clinical1

FLT32

Abstract3

Amino acids2

Encodes a nuclear1

Genetic alterations1

Researchers5

Oncogenic3

Point mutation1

NRAS2

Frequent3

Chromosome4

Colorectal Cancer2

Disrupt1

Transcript2

Phenotypes3

Differential1

Molecular1

Squamous1

Expression6

Human3

Markedly reduced1

Absent2

Locus1

Lung6

Found4

Prevalence1

Effector1

Tyrosinase1

Protein encoded2

Melanoma3