TumorKinasesMutationClinical managementGeneRepresentMutationsPathogenicVariantsGroupSmallHistoryPatientsInteractsTumor suppressorCyclinsCyclinTumourViralBCL2SimilarityOccursReceptorTranscriptionCancersLesionsBindsStructuralCellularGeneticCellSignalsPresentApoptosisHumanCancerSpecificGrowthHighlyStructureCellsMembers
Tumor5
- Tumorigenesis in retinoblastoma is due to inactivation of both alleles of the RB susceptibility gene RB1.6,7 RB1 is a tumor suppressor gene whose deletion or mutation causes unregulated proliferation of embryonal retinal cells. (paojournal.com)
- Clinical presentation and family history, combined with molecular genetic testing of tumor and/or peripheral blood, are used to determine if a patient has a heritable or non-heritable mutation. (paojournal.com)
- Genetic testing is, therefore, a valuable adjunct to the clinical management of RB patients and their family members, since it gives diagnostic certainty,Ophthalmologyfacilitates timely treatment, reduces unnecessary examinations, aids genetic counseling for reproductive planning, and allows early tumor detection in at-risk individuals. (paojournal.com)
- We initiated this study to detect and characterize the RB1 gene mutations in tumor samples collected from Filipino patients with retinoblastoma. (paojournal.com)
- Incontinentia pigmenti is a genodermatosis and can be associated with malignancies (ie, chromosomal instability syndrome), such as acute myelogenous leukemia, Wilms tumor, malignant rhabdoid tumors, and retinoblastoma. (medscape.com)
Kinases2
- Protein kinases represent promising anticancer drug targets. (rcsb.org)
- We describe here the meriolins, a new family of inhibitors of cyclin-dependent kinases (CDK). (rcsb.org)
Mutation2
- All 27 exons contribute to the 2.7 kb open reading frame which codes for a 110 KDa nuclear phosphoprotein known as pRB.8 pRB functions as a regulator of cellular replication.9 Any mutation in exons 13-21 of the RB1 gene, which code for the functional domain of the protein, will result in reduced function of pRB. (paojournal.com)
- Whether the mutation translates into a pRB protein product that is either totally absent, present but with total loss of function, or abnormal but with some residual function, determine the severity of the disease. (paojournal.com)
Clinical management1
- Retinoblastoma genetics screening and clinical management. (cdc.gov)
Gene2
- In all cases, we discovered pathogenic mutations in P2RY5 , which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 ( RB1 ) gene. (nature.com)
- We identified and characterized the type of mutations in exons 13-21 of the RB1 gene by polymerase chain reaction (PCR) amplification and sequencing and correlated the mutations with patients' clinical presentation and family history. (paojournal.com)
Represent1
Mutations2
- NEMO consists of 10 exons, and most mutations cause deletions of exons 4-10, resulting in a truncated protein. (medscape.com)
- Hypomorphic mutations may impair but not abolish NEMO protein function. (medscape.com)
Pathogenic1
- Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives. (cdc.gov)
Variants1
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. (cdc.gov)
Group1
- this family of proteins is hereafter called EBF) are a group of DNA-binding transcription factors with the basic helix-loop-helix (bHLH) domain. (aacrjournals.org)
Small1
- Small non-protein-coding RNA molecules, composed of around 22 nucleotides, are commonly named as miRNAs ( 1 - 3 ). (frontiersin.org)
History1
- Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women. (cdc.gov)
Patients1
- Because of these benefits, there is a significant reduction in hospital expenditure and psychological stress for patients and their families who undergo genetic testing for RB. (paojournal.com)
Interacts2
- Additionally, pRB interacts with other proteins to influence cell survival, the self-destruction of cells (apoptosis), and the process by which cells mature to carry out special functions (differentiation). (medlineplus.gov)
- Retinoblastoma protein (Rb) interacts with cyclin-dependent kinases and regulates the transcription of genes necessary for progression through the S phase of the cell cycle. (embl-heidelberg.de)
Tumor suppressor3
- a tumor suppressor protein often mutated in human cancers. (nih.gov)
- retinoblastoma protein, a tumor suppressor that binds to the E2F family of transcription activators. (nih.gov)
- This protein acts as a tumor suppressor, which means that it regulates cell growth and keeps cells from dividing too fast or in an uncontrolled way. (medlineplus.gov)
Cyclins2
- Structures of cyclins, Rb and TFIIB reveal that a common motif occurs in proteins regulating three consecutive events of cell-cycle control. (embl-heidelberg.de)
- Recent results on the structures of two cyclins, cyclin A and cyclin H, and two transcription factor mediator proteins, TFIIB and the A pocket region of the retinoblastoma tumour suppressor protein (Rb), show that they share domains with a strikingly similar alpha-helical topology, despite remote sequence identity. (embl-heidelberg.de)
Cyclin12
- also called Cdc2) cyclin-dependent protein kinase. (nih.gov)
- CDK - a family of cyclin-dependent protein kinases. (nih.gov)
- also called CCNB1) cyclin B, a cell cycle inducible protein, prominent in mitosis, which activates cdks. (nih.gov)
- also called CCNA1) cyclin A, a cell cycle inducible protein, prominent in S-phase, which activates cdks. (nih.gov)
- In terms of tertiary structure, the first six helices of PhyR present a high degree of similarity to proteins possessing a cyclin fold. (cathdb.info)
- There are 61335 CYCLIN domains in 41443 proteins in SMART's nrdb database. (embl-heidelberg.de)
- Taxonomic distribution of proteins containing CYCLIN domain. (embl-heidelberg.de)
- The complete taxonomic breakdown of all proteins with CYCLIN domain is also avaliable . (embl-heidelberg.de)
- Click on the protein counts, or double click on taxonomic names to display all proteins containing CYCLIN domain in the selected taxonomic class. (embl-heidelberg.de)
- Structural similarity between the pocket region of retinoblastoma tumour suppressor and the cyclin-box. (embl-heidelberg.de)
- The cyclin box fold: protein recognition in cell-cycle and transcription control. (embl-heidelberg.de)
- Solution structure of the C-terminal core domain of human TFIIB: similarity to cyclin A and interaction with TATA-binding protein. (embl-heidelberg.de)
Tumour4
- Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7. (embl-heidelberg.de)
- The pocket domain of the retinoblastoma (Rb) tumour suppressor is central to Rb function, and is frequently inactivated by the binding of the human papilloma virus E7 oncoprotein in cervical cancer. (embl-heidelberg.de)
- The pocket region of retinoblastoma tumour suppressor (Rb) is essential for tumour suppressing activity. (embl-heidelberg.de)
- For instance, DNA hypermethylation of promoter regions can cause binding of methyl DNA binding proteins, essential for gene inactivation (mainly of tumour suppressor genes), and global DNA hypomethylation is associated with chromosomal instability [ 5 - 7 ]. (biomedcentral.com)
Viral2
- We present the structural/functional features of the Rb pocket, and the potential binding region for cellular or viral proteins within domain A. (embl-heidelberg.de)
- This cell cycle block was reversed by inactivation of Rb proteins with viral oncoproteins such as polyoma large T (PyLT) antigen and Adenovirus E1A. (silverchair.com)
BCL28
- BCL2 associated x protein, highly homologous Bcl-2 family members lacking the BH4 domain. (nih.gov)
- BCL2 family of proteins is the hallmark of apoptosis regulation. (hindawi.com)
- BCL2 protein family, through its role in regulation of apoptotic pathways, is possibly related to cancer pathophysiology and resistance to conventional chemotherapy. (hindawi.com)
- In the present paper, we describe current knowledge on the role of BCL2 apoptosis regulator proteins in acute and chronic leukemias. (hindawi.com)
- their activation is mainly regulated by the BCL2 family proteins [ 2 - 4 ]. (hindawi.com)
- the result of this translocation is the enhanced BCL2 protein transcription. (hindawi.com)
- BCL2 protein was found to inhibit cell death. (hindawi.com)
- The first, which is called the intrinsic cell death pathway, is evoked by intracellular stresses like radiation, growth factor withdrawal, cytokine deprivation, cytotoxic drugs and is regulated by BCL2 family proteins [ 6 , 7 ]. (hindawi.com)
Similarity1
- The SL domain has sequence similarity to the EcfG-family of alternative sigma factors. (cathdb.info)
Occurs1
- Non-germinal retinoblastoma occurs in people with no history of the disorder in their family. (medlineplus.gov)
Receptor2
- This pathway is activated by the cell-surface death receptors CD95 (Apo-1 or Fas)/TRAIL/tumor necrosis factor (TNF) receptor 1 family proteins which are located on the plasma membrane, and directly activates the caspase cascade via the recruitment of the "initiator" caspase-8 within a death-inducing signaling complex (DISC) [ 8 ]. (hindawi.com)
- Hyperactivation of these pathways drives tumorigenesis and supports tumor growth.2 Signaling pathway proteins that are commonly activated by physiological responses include growth factor receptor (e.g. (technologynetworks.com)
Transcription2
- a family of transcription activators involved in cell cycle specific transcription. (nih.gov)
- A protein recognition domain functioning in cell-cycle and transcription control. (embl-heidelberg.de)
Cancers1
- About 1 in 3 people in the United States will develop cancer during their lifetime, so it's not uncommon to have many cancers in a family. (cancer.org)
Lesions1
- Genetic alterations to cellular genes may be inherited or arise spontaneously because of DNA damage from an environmental carcinogen or mutation from replication errors.1 Many common genetic lesions in cancer involve signaling proteins. (technologynetworks.com)
Binds1
- a protein that binds to the Cdt1 component of the pre-replication complex and inactivates it, preventing assembly of the pre-replication complex at inappropriate times during the cell cycle. (nih.gov)
Structural1
- Overview of the Structural Clusters (SC) and Functional Families within this CATH Superfamily. (cathdb.info)
Cellular1
- The Hsp90 family of heat shock proteins represents one of the most abundantly expressed and highly conserved families of cellular chaperones whose expression can be upregulated under conditions of cellular stress. (enzolifesciences.com)
Genetic2
- As in other forms of cancer, these genetic changes make the pRB protein ineffective, and cells can grow and divide without control, forming a tumor. (medlineplus.gov)
- Has anyone in the family with or without cancer had genetic testing, and did that testing show any abnormal genes? (cancer.org)
Cell1
- Using a chondrocyte cell line, we found that FGF induced a rapid dephosphorylation of all three proteins of the Rb family (pRb, p107, and p130) and a blockade of the cells in the G1 phase of the cell cycle. (silverchair.com)
Signals1
- ataxia telangiectasia mutated) a protein kinase that signals the presence of certain types of DNA damage. (nih.gov)
Present1
- In germinal retinoblastoma, an RB1 mutation is present in all of the body's cells. (medlineplus.gov)
Apoptosis1
- The mechanism of apoptosis is evolutionarily conserved and is executed by a family of proteins, called caspases. (hindawi.com)
Human2
- No. ADI-SPA-971): Lane 1: MWM, Lane 2: TRAP1 Recombinant Human Protein (Prod. (enzolifesciences.com)
- 5. Boyer SN, Wazer DE, Band V. E7 protein of human papilloma virus-16 induces degradation of retinoblastoma protein through the ubiquitin-proteasome pathway. (ac.ir)
Cancer5
- We connect patients, caregivers, and family members with essential services and resources at every step of their cancer journey. (cancer.org)
- It's important to understand that not every cancer that seems to run in a family is caused by a family cancer syndrome. (cancer.org)
- Sometimes, cancer might be more common in certain families because family members share certain behaviors or exposures that increase cancer risk, such as smoking, or because of other factors that can run in some families, like obesity. (cancer.org)
- How do you recognize an inherited or family cancer syndrome? (cancer.org)
- When trying to determine if cancer might run in your family, first collect some information. (cancer.org)
Specific1
- Current research focuses on the prognostic impact and specific role of these proteins in the pathogenesis of leukemias. (hindawi.com)
Growth1
- To investigate more precisely the role of the individual Rb family proteins in FGF-mediated growth inhibition, we used chondrocyte micromass culture of limb bud cells isolated from mice lacking Rb proteins individually or in combination. (silverchair.com)
Highly1
- Also highly conserved is the extensive A-B interface, suggesting that it may be an additional protein-binding site. (embl-heidelberg.de)
Structure1
- CATH: Protein Structure Classification Database by I. Sillitoe, N. Dawson, T. Lewis, D. Lee, J. Lees, C. Orengo is licensed under a Creative Commons Attribution 4.0 International License . (cathdb.info)
Cells1
- The loss of this protein allows retinal cells to grow and divide without control or order, leading to the development of a cancerous tumor. (medlineplus.gov)
Members1
- Binding necessitate phosphorylation by members of the Cdk and Dbf4/Ddk families. (nih.gov)