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

Did you mean: 3, BRCA1 BRCA2 containing, complex, human, proteus, subunit

  • 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.[] Influenza subunit vaccine - ten years experience. Europ J Clin Res 1992; 3: 117-38. [ Links ] 3. Nichol KL, Lind A, Margokis KL, et al .[] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[] 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.[] 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.[] […] 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[]

    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.[] […] size range anticipated for LIG4/XRCC4 complexes (data not shown).[] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[] 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[] 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[] The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.[]

    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.[] 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[] […] 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[] Abstract Mitochondrial trifunctional protein (TP) is an enzyme complex with three activities: enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase[] Media related to Mitochondrial trifunctional protein deficiency at Wikimedia Commons[] Gov't Language eng PubMed ID 26109258 TY - JOUR T1 - Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.[]

    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[] 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[] His laboratory has been interested in the role of oxidants as signaling molecules and the participation of free radicals in human disease. Dr. J.[] […] 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[] AMP-Dependent Protein Kinase RIalpha Subunit PRKAR1A protein, human RNA, Messenger RNA, Small Interfering SMAD3 protein, human Smad3 Protein Transforming Growth Factor beta[] Table 3 presents a comprehensive list of causes of death in our series. Table 3.[]

    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[] No detectable assembly of the F364C E1α subunit with normal E1β was observed during the 2 h chase.[] 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[] 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[] Zero levels of protein should be given at this stage.[] This promotes improper assembly of mutant E1 alpha with E1 beta subunits, leading to degradation of both polypeptides.[]

    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[] FANCL possesses a PHD/RING-finger domain and is a putative E3 ubiquitin ligase subunit of the core complex.[] 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[] In the general population, these cancers are commonly linked to human papillomavirus (HPV) infection.[] […] and FANCI, and complex III member FANCJ.[] The 20 FANC proteins identified to date constitute the FANC pathway.[]

  • Barth Syndrome

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

    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.[] […] 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[] At Pittcon, Michael will introduce a 3-pronged template approach to HPLC method development.[] Cyclin-dependent kinase 4 is the catalytic subunit of a complex formed with D-type cyclins, which fulfill regulatory functions.[] 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[] 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[]

    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).[] 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 .[] Normal human tissues showed consistent PDE11A expression.[] Abstract Carney's complex is composed of myxoma, spotty pigmentation and endocrine overactivity.[] […] of Carney complex, a familial lentiginosis-multiple endocrine neoplasia syndrome frequently caused by mutations in PRKAR1A, which encodes the 1alpha regulatory subunit of protein[] Mitotane inhibits side-chain cleavage, 11- and 18-hy-droxylase, and 3 β-hydroxysteroid dehydrogenase.[]

    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[] , the core catalytic subunit that nucleates assembly of the holoenzyme.[] Candidate genes can then be identified and tested for complementation on the basis of information from human and model organism genome projects.[] (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60 Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded Protein.[] (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)[] ; 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[]

    Missing: BRCA1 BRCA2 containing