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1,880 Possible Causes for RAP1B,, RAS, family, member, of, oncogene, protein,, rat

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  • Familial Medullary Thyroid Carcinoma

    […] rMTC cell line, compared to that of the same cell engineered to secrete interleukin-2 (rMTC-IL2), in an animal model of familial human MTC, the inbred strain of Wag/Rij rats[ncbi.nlm.nih.gov] To investigate the biological significance of Ras/ERK1/2-induced STAT3 Ser(727) phosphorylation for cell proliferation and transformation, N-Ras-transformed NIH-3T3 cells[ncbi.nlm.nih.gov] , human Oncostatin M Receptor beta Subunit Calcitonin Proto-Oncogene Proteins c-ret RET protein, human Supplementary concepts Amyloidosis, Primary Cutaneous Familial medullary[ncbi.nlm.nih.gov] Basal and pentagastrin-stimulated CT concentrations were measured in 71 healthy volunteers--aged 20-67 years--and 76 genetically unaffected members of families with hereditary[ncbi.nlm.nih.gov] Abstract Familial medullary thyroid carcinoma is a distinct clinical entity in which early diagnosis by screening of family members for elevated calcitonin levels can be useful[ncbi.nlm.nih.gov] Inherited forms of MTC are related to mutations in the RET proto-oncogene.[ncbi.nlm.nih.gov] Abstract We studied prospectively 46 members of a kindred with familial medullary thyroid carcinoma to determine the importance of possible cellular immune reactivity to tumor[ncbi.nlm.nih.gov] This mutation had both activating and inactivating effects on the RET (REarranged during Transfection) protein.[ncbi.nlm.nih.gov]

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  • Costello Syndrome

    BACKGROUND: Costello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog[ncbi.nlm.nih.gov] In vivo, expression of either form of CS H-Ras promoted cell proliferation and inhibited neurogenesis.[ncbi.nlm.nih.gov] When P21 H-Ras is mutated in tumour cells, the alternative protein P19 H-Ras is also mutated.[ncbi.nlm.nih.gov] Leave a message for Jo and Nicola in our Feature Member forum .[essentialbaby.com.au] Hosts a bi-annual conference for families and the medical community.[disabilityinfo.org] We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various[ncbi.nlm.nih.gov] To address this question, the astroglial lineage was investigated in two model systems of a developmental disorder with intellectual disability caused by mutant Harvey rat[ncbi.nlm.nih.gov] Antenatal diagnosis Prenatal diagnosis is possible if the disease-causing mutation has been identified in an affected family member, or if the diagnosis of CS is suspected[orpha.net]

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  • Multiple Endocrine Neoplasia Type 2A

    Highlights Photo Credit Gracia Lam Photo Credit Universal Studios and the Library of Congress, via Associated Press Phys Ed The Stoner as Gym Rat Many people who frequently[nytimes.com] Frank-Raue K 1 , Rybicki LA , Erlic Z , Schweizer H , Winter A , Milos I , Toledo SP , Toledo RA , Tavares MR , Alevizaki M , Mian C , Siggelkow H , Hüfner M , Wohllk N ,[ncbi.nlm.nih.gov] […] for a G to C transition at the second nucleotide of codon 620 (exon 10) in the patients, resulting in the replacement of cysteine by a serine residue in the affected Ret protein[ncbi.nlm.nih.gov] No mutations in these exons were detected in any unaffected normal members of MEN 2A.[ncbi.nlm.nih.gov] Our aim was to evaluate the frequency of RET mutation in 10 Saudi families with MEN type 2A and familial MTC.[ncbi.nlm.nih.gov] Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ タイトル Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats[genome.jp] In: Pagon, RA, et al, editors. GeneReviews (Internet).[invitae.com] Figure 1 Schematic diagram of the structures of the RET gene and protein. Protein domains are indicated.[jmg.bmj.com]

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  • Noonan Syndrome

    […] sarcoma viral oncogene homolog AD Costello syndrome KRAS V-KI-RAS Kirsten rat sarcoma viral oncogene homolog AD Noonan/CFC/Costello syndrome MAP2K1 Mitogen-activated protein[mayomedicallaboratories.com] […] book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK[karger.com] All PTPN11 missense mutations cluster in interacting portions of the amino N-SH2 domain and the phosphotyrosine phosphatase domains, which are involved in switching the protein[ncbi.nlm.nih.gov] Four of the five family members have pulmonic stenosis confirmed by catheterization.[annals.org] Germline mutations in HRAS proto-oncogene cause Costello syndrome . Nat. Genet. 37 , 1038–1040 (2005). 21. Tuveson, D.A. et al.[doi.org] A mutation in the RAF1 gene (a member of a small family of serine-threonine kinases) accounts for between 5-10% of cases.[news-medical.net] Protein kinase A and protein kinase C synergistically activate the Raf-1 kinase/mitogen-activated protein kinase cascade in neonatal rat cardiomyocytes . J. Mol. Cell.[doi.org] Orthopaedic manifestations are frequent and diverse in Ras/MAPK disorders and can be used in phenotypic differentiation between these disorders. II.[ncbi.nlm.nih.gov]

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  • Multiple Endocrine Neoplasia

    rat tissues.[doi.org] PubMed CrossRef Google Scholar Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Devolx B, Dralle H (2003)[springerlink.com] RESULTS: We found that C634R mutation could enhance RET protein expression and change the location of the mutated protein and forced it into the nucleus, GDNF treatment alone[ncbi.nlm.nih.gov] Of the family members, 5 exhibited a C634Y (TGC TAC) missense mutation in exon 11 of RET‑PO, among which 2 family members were screened as mutation carriers, while the others[ncbi.nlm.nih.gov] Later, additional nonendocrine conditions (von Recklinghausen neurofibromatosis and von Hippel-Lindau disease) were found accompanying other more recently described familial[doi.org] MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene.[ncbi.nlm.nih.gov] On the basis of their major features, new familial MEN syndromes should manifest (i) a new endocrine tumour combination, (ii) autosomal dominant inheritance, and, possibly[ncbi.nlm.nih.gov] In: Pagon, RA, et al, editors. GeneReviews (Internet).[invitae.com]

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  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Host/Reactivities: Host: Synthetic / Reactivity: Mouse Applications: RNA Interference (RNAi) ( siRNA ) SLC34A3 siRNA (Rat) Gene Names: SLC34A3 ; Sodium-phosphate transport[mybiosource.com] Oduwole AO, Giwa OS, Arogundade RA. Relationship between rickets and incomplete distal renal tubular acidosis in children.[scielo.mec.pt] Thus, this family raises some issues on the transmission and pathophysiology of hereditary hypophosphatemic rickets with hypercalciuria.[ncbi.nlm.nih.gov] Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Catli G, Anik A, Al-Enezi AF, Ozisik S, Al-Faham MSA, Abaci A, Dundar B, Kattan WE, Alsagob M, Kavukcu S, Tamimi HE, Meyer[link.springer.com] Figure 1 Family pedigree showing the haplotypes and analytical findings .[ojrd.biomedcentral.com] PATIENTS OR OTHER PARTICIPANTS Members of two unrelated families with HHRH participated in the study.[unboundmedicine.com] Fibroblast growth factor-23 in oncogenic osteomalacia and x-linked hypophosphatemia. N Engl J Med 2003; 348:1656-63.[jpma.org.pk] Halloran BP, Bikle DD, Levens MJ, Castro ME, Globus RK, Holton E: Chronic 1,25-dihydroxyvitamin D 3 administration in the rat reduces the serum concentration of 25-hydroxyvitamin[karger.com]

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  • Ewing Family of Tumors

    Ucar EO, Arda N, Aitken A (2012) Extract from mistletoe, Viscum album L., reduces Hsp27 and 14-3-3 protein expression and induces apoptosis in C6 rat glioma cells.[doi.org] Sussel L, Kalamaras J, Hartigan-O’Connor DJ, Meneses JJ, Pedersen RA, Rubenstein JL, et al.[doi.org] We studied the expression of 4 tumor suppressor proteins in the Ewing family of tumors (EFTs).[ncbi.nlm.nih.gov] Characterization of the ets oncogene family member, Fli-1. J. biol.[dx.doi.org] While this family is referred to as "Ewing sarcoma and primitive neuroectodermal tumor" by the World Health Organization, the term "Ewing family of tumors" is preferred by[symptoma.com] Oncogene 10: 423–431. View Article Google Scholar 14.[plosone.org] Whyte WA, Orlando DA, Hnisz D, Abraham BJ, Lin CY, Kagey MH, Rahl PB, Lee TI, Young RA.[oncotarget.com] Prevention of primary prostate cancer in Lobund-Wistar rats by N -(4-hydroxyphenyl)retinamide. Cancer Res 1991 ; 51 : 3610 –1. Formelli F, Cleris L.[doi.org]

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  • Influenza

    Three clinical toxicology studies identified neurotoxicity in newborn rats administered this medication.[ncbi.nlm.nih.gov] In this retrospective nationwide study, we included 3748 RA patients who received influenza vaccinations in 2008, 2009 and 2010, and 3748 matched RA patients who did not receive[ncbi.nlm.nih.gov] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[doi.org] In communicating with Member States, EISN utilises National Focal Points, who are responsible for overseeing interactions between ECDC and individual Member States regarding[ecdc.europa.eu] The classification of the new virus in a separate genus of the Orthomyxoviridae family is proposed.[doi.org] Evolutionary conserved close linkage of the c-fes/fps proto-oncogene and genetic sequences encoding a receptor-like protein.[pubmedcentral.nih.gov] Furin, discovered in the region immediately upstream of the human c- fes / fps proto-oncogene 153 , is ubiquitously expressed and catalyzes the processing of precursor proteins[doi.org] In rat hepatocytes, for example, TNF inhibits fatty acid oxidation; influenza B virus produces similar effects in mice.[adc.bmjjournals.com]

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  • Legius Syndrome

    The SPRED1 protein is a negative regulator of the RAS (rat sarcoma viral oncogene homolog)‐MAPK (mitogen‐activated protein kinase) pathway.[els.net] These data clearly demonstrate that SPRED1 inhibits the Ras-ERK pathway by recruiting neurofibromin to Ras through the EVH1-GRD interaction, and this study also provides molecular[ncbi.nlm.nih.gov] We investigated intelligence and behavior in 15 patients with Legius syndrome and 7 unaffected family members.[ncbi.nlm.nih.gov] We report mutation data and clinical details in fourteen new families with Legius syndrome. Six novel germline mutations are described.[ncbi.nlm.nih.gov] […] group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene[ncbi.nlm.nih.gov] Abstract The Ras/mitogen-activated protein kinase (MAPK) pathway plays a critical role in transducing mitogenic signals from receptor tyrosine kinases.[ncbi.nlm.nih.gov] CALM and multiple nevi or lentigines are rare or absent in CFC patients with Kirsten rat sarcoma viral oncogene homolog ( KRAS ) mutations ( 25 ), further demonstrating the[doi.org] Keymolen, K ; Van den Ende, J ; Mangold, E ; Peltonen, S ; Brice, G ; Rankin, J ; Van Spaendonck-Zwarts, KY ; Yoshimura, A ; Legius, E (2011) Legius Syndrome in Fourteen Families[openaccess.sgul.ac.uk]

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  • Birt-Hogg-Dubé Syndrome

    Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas.[ncbi.nlm.nih.gov] In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet].[ghr.nlm.nih.gov] Birt Hogg-Dube Syndrome-Associated FLCN Mutations Disrupt Protein Stability. Human Mutation, 32 (8), 921-929.[opus.bath.ac.uk] PURPOSE: This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS).[ncbi.nlm.nih.gov] We describe a BHD-affected Taiwanese family with clinical and genetic study.[ncbi.nlm.nih.gov] The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein[ncbi.nlm.nih.gov] Flcn -null mice and rats are embryonic lethal, and Flcn heterozygous knockout mice and rats with Flcn mutations develop renal cell adenomas and RCC. 28 , 29 Nihon rats with[jcp.bmj.com] Additionally, since it presents in patients' 20s or 30s, otherwise healthy members of the military may be affected, as with the index patient discussed in this case report[ncbi.nlm.nih.gov]

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