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10,801 Possible Causes for 3, BRCA1 BRCA2 containing, complex,, human, protein,, subunit

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  • Influenza

    […] years, using data from a cohort study with 266 children who had received 2 doses (0.25 mL/dose for 3 years old, 0.5 mL/dose for 3 years old) in the 2006/2007 season.[ncbi.nlm.nih.gov] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[scielo.org.ar] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] Each genomic RNA segment exists in the form of a ribonucleoprotein complex (RNP) in association with nucleoproteins and an RNA-dependent RNA polymerase in virions.[ncbi.nlm.nih.gov] Influenza virus M2 protein is an integral membrane protein expressed on the infected-cell surface. Cell 40 , 627–633 (1985). 5. Zebedee, S.L. & Lamb, R.A.[dx.doi.org] […] all types of influenza viruses, each vRNA segment binds to an RNA-dependent RNA polymerase and multiple copies of nucleoprotein (NP), forming a rod-like ribonucleoprotein complex[doi.org]

    Missing: BRCA1 BRCA2 containing
  • LIG4 Syndrome

    Measurement of phosphorylated (p) ATM, SMC1, and H2AX (γH2AX) was performed by flow cytometry to assess DNA repair defects in a 3-year-old girl.[bloodadvances.org] […] size range anticipated for LIG4/XRCC4 complexes (data not shown).[academic.oup.com] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] Epub 2004 Jun 11. 2004 23XRCC6, LIG4, PRKDC, XRCC4, XRCC5 Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4[genatlas.medecine.univ-paris5.fr] PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID LIG4 lig4 LIG4 syndrome 606593 ZEBRAFISH MODELS No data available PHENOTYPE No data available[zfin.org] The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.[humpath.com]

    Missing: BRCA1 BRCA2 containing
  • Mitochondrial Trifunctional Protein Deficiency

    Background Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane.[emedicine.com] It is composed of four alpha-subunits (HADHA) harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits (HADHB[ncbi.nlm.nih.gov] […] and beta subunit proteins, activities of LCHAD and LCKAT, and stimulated FAO capacities, clearly indicating that MTP is pharmacologically up-regulated by bezafibrate in human[ncbi.nlm.nih.gov] Abstract Mitochondrial trifunctional protein (TP) is an enzyme complex with three activities: enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase[ncbi.nlm.nih.gov] Media related to Mitochondrial trifunctional protein deficiency at Wikimedia Commons[en.wikipedia.org] Gov't Language eng PubMed ID 26109258 TY - JOUR T1 - Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.[wwww.unboundmedicine.com]

    Missing: BRCA1 BRCA2 containing
  • Carney Complex

    Each of the mutations caused a frameshift that led to a new stop codon into the 3' untranslated open reading frame, predicting an elongated protein that, however, was absent[ncbi.nlm.nih.gov] To accomplish this goal, we introduced null alleles of the PKA catalytic subunits Prkaca (Ca) or Prkacb (Cb) into the Prkar1a-cardiac knockout (R1a-CKO) or limited Schwann[ncbi.nlm.nih.gov] His laboratory has been interested in the role of oxidants as signaling molecules and the participation of free radicals in human disease. Dr. J.[books.google.ro] […] overactivity Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome LAMB Syndrome NAME Syndrome Carney complex variant CARNEY COMPLEX, TYPE 1; CNC1 Myxoma, Spotty[wikidata.org] AMP-Dependent Protein Kinase RIalpha Subunit PRKAR1A protein, human RNA, Messenger RNA, Small Interfering SMAD3 protein, human Smad3 Protein Transforming Growth Factor beta[ncbi.nlm.nih.gov] Table 3 presents a comprehensive list of causes of death in our series. Table 3.[doi.org]

    Missing: BRCA1 BRCA2 containing
  • Intermediate Maple Syrup Urine Disease

    @article{Bindu2007IntermediateMS, title {Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India.}, author {Parayil Sankaran Bindu[semanticscholar.org] No detectable assembly of the F364C E1α subunit with normal E1β was observed during the 2 h chase.[utsouthwestern.influuent.utsystem.edu] Conversely, human amnion epithelial cells (hAEC) may have utility as a hepatocyte substitute, and they share many of the characteristics of pluripotent embryonic stem cells[ncbi.nlm.nih.gov] In addition, the BCKD complex contains two regulatory enzymes, a kinase and a phosphatase, which control activity of the complex through a reversible phosphorylation (inactive[www4.utsouthwestern.edu] Zero levels of protein should be given at this stage.[zekesfundraiser.org.au] This promotes improper assembly of mutant E1 alpha with E1 beta subunits, leading to degradation of both polypeptides.[biochemj.org]

    Missing: BRCA1 BRCA2 containing
  • Fanconi Anemia

    Abstract To potentially reduce late effects of malignancy and chronic graft-versus-host disease in patients with Fanconi anemia, 3 patients received unmanipulated umbilical[ncbi.nlm.nih.gov] FANCL possesses a PHD/RING-finger domain and is a putative E3 ubiquitin ligase subunit of the core complex.[ncbi.nlm.nih.gov] The FA-BRCA pathway gets activated in response to DNA damage resulting in monoubiquitination of FANCD2/FANCI complex and its targeting to BRCA1/BRCA2/RAD51-containing nuclear[research.fhcrc.org] In the general population, these cancers are commonly linked to human papillomavirus (HPV) infection.[ncbi.nlm.nih.gov] […] and FANCI, and complex III member FANCJ.[ncbi.nlm.nih.gov] The 20 FANC proteins identified to date constitute the FANC pathway.[ncbi.nlm.nih.gov]

  • Barth Syndrome

    Cardioskeletal myopathy-neutropenia syndrome MGA2 3-methylglutaconic aciduria type 2 X-linked cardioskeletal myopathy and neutropenia 3-methylglutaconic aciduria type II[wikidata.org] Taz1p is not necessary for the normal expression of AAC2 or ATP synthase subunits or assembly of their respective complexes.[ncbi.nlm.nih.gov] [Date last reviewed: 2016-09-01] Comments on ortholog(s) Ortholog of human TAZ (1 Drosophila to 1 human).[flybase.org] Thus, A88E BTHS mutant tafazzin complexes are specifically and selectively much more transient than wt Taz1p complexes.[jcb.rupress.org] Combining those profiles with gene set enrichment analysis allows detecting significantly affected protein complexes.[biorxiv.org] Succinate dehydrogenase consists of four subunits, of which subunits C and D form a membrane anchor.[embomolmed.embopress.org]

    Missing: BRCA1 BRCA2 containing
  • CDK4-linked Melanoma

    The respective type of skin cancer may be referred to as CDK4-linked melanoma or cutaneous malignant melanoma 3, and is a very rare disease.[symptoma.com] […] showed overexpression of CDK4 and/or CCND1, suggest that functional inactivation of pRb through this pathway may be involved in the development or progression of sporadic human[ncbi.nlm.nih.gov] At Pittcon, Michael will introduce a 3-pronged template approach to HPLC method development.[news-medical.net] Cyclin-dependent kinase 4 is the catalytic subunit of a complex formed with D-type cyclins, which fulfill regulatory functions.[symptoma.com] As the p16 protein is involved in a cell cycle regulatory pathway consisting of at least pRb, cdk4 and cyclin D1, the tumours were also screened for amplifications of the[ncbi.nlm.nih.gov] Analytik Jena Advertisement Trending Stories Latest Interviews Top Health Articles Cancer cure within a year, claims Israeli team Megaphages detected in the intestinal tract of humans[news-medical.net]

    Missing: BRCA1 BRCA2 containing
  • Primary Pigmented Nodular Adrenocortical Disease

    We used 3-dimensional (3D) volumetric analysis to characterize and compare adrenal size in PPNAD patients, with and without Cushing's syndrome (CS).[ncbi.nlm.nih.gov] Genetically lean mice result from targeted disruption of the RIIb subunit of protein kinase A . Nature 382 , 622–626 (1996). 20. Amieux, P.S. et al .[doi.org] Normal human tissues showed consistent PDE11A expression.[ncbi.nlm.nih.gov] Abstract Carney's complex is composed of myxoma, spotty pigmentation and endocrine overactivity.[ncbi.nlm.nih.gov] […] of Carney complex, a familial lentiginosis-multiple endocrine neoplasia syndrome frequently caused by mutations in PRKAR1A, which encodes the 1alpha regulatory subunit of protein[ncbi.nlm.nih.gov] Mitotane inhibits side-chain cleavage, 11- and 18-hy-droxylase, and 3 β-hydroxysteroid dehydrogenase.[doi.org]

    Missing: BRCA1 BRCA2 containing
  • Isolated Complex I Deficiency

    Sánchez-Caballero L 1 , Ruzzenente B 2 , Bianchi L 2 , Assouline Z 3 , Barcia G 3 , Metodiev MD 2 , Rio M 3 , Funalot B 4 , van den Brand MA 1 , Guerrero-Castillo S 1 , Molenaar[ncbi.nlm.nih.gov] , the core catalytic subunit that nucleates assembly of the holoenzyme.[forskning.ku.dk] Candidate genes can then be identified and tested for complementation on the basis of information from human and model organism genome projects.[humpath.com] (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60 Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded Protein.[genecards.org] (n 3), macrocephaly with progressive leukodystrophy (n 2), and a residual group of unspecified encephalomyopathy (n 6) subdivided into progressive (n 4) and stable (n 2)[ncbi.nlm.nih.gov] ; ii, CI NDUFB8 subunit; iii, CII 70 kDa flavoprotein subunit; iv, CIII core protein 2; v, CIV subunit 1; vi, CIV subunit 4; viii, porin; viii, no primary antibody control[clinsci.org]

    Missing: BRCA1 BRCA2 containing