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9,157 Possible Causes for 5, Allele, B,, Basic, Class, Containing,, Domain, Helix Loop Helix, wt

  • B-Cell Chronic Lymphocytic Leukemia

    ICOS enhances all the basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, the upregulation of molecules that mediate cell-cell interaction[ncbi.nlm.nih.gov] These findings suggest that this is a case of B-CLL lacking allelic exclusion and undergoing a class switch of one allele with the incomplete expression of the VH gene.[ncbi.nlm.nih.gov] The final diagnosis of BCLL requires the presence of at least 5,000 B cells per µl in the peripheral blood and proof of a clonal B-cell population.[symptoma.com] Combined immunophenotyping and fluorescence in situ hybridization demonstrated that only CD19 cells contained a trisomy 12, whereas CD3 cells contained a trisomy 8.[ncbi.nlm.nih.gov] Tres de los 5 pacientes sufrieron progresión a un estadio más avanzado de LLC. Conclusión.[actasdermo.org] […] reported greater levels of fatigue and worse functioning in physical domains.[ncbi.nlm.nih.gov] BACKGROUND: Members of the inhibitor of DNA-binding (ID) family of helix-loop-helix proteins have been causally implicated in the pathogenesis of several types of B-cell lineage[ncbi.nlm.nih.gov] In addition, B cells from TCL1 transgenic mice showed a significant decrease in DNA methylation compared with WT controls.[ncbi.nlm.nih.gov] Both fusion species contained open reading frames making possible the translation of two truncated forms of CHST11 protein.[ncbi.nlm.nih.gov]

  • Hepatitis B

    Department of Infectious Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China. 2 Department of Anatomy, School of Basic[ncbi.nlm.nih.gov] In summary, the findings of this study suggest that the PIN1 rs2233682 A allele might be related with a decreased risk of HBV-related LC in a Guangxi population.[ncbi.nlm.nih.gov] Hepatitis B is caused by the Hepatitis B Virus (HBV) which is a DNA virus.[symptoma.com] […] active medications (95.2% were on TDF/3TC while 4.8% on 3TC containing regimen).[ncbi.nlm.nih.gov] AIM: To detect hyper-conserved regions in the hepatitis B virus (HBV) X gene ( HBX ) 5' region that could be candidates for gene therapy.[ncbi.nlm.nih.gov] 1 review 6.0 Generic name: hepatitis b adult vaccine systemic Brand names: Engerix-B, Recombivax HB Adult, Recombivax HB Dialysis Formulation, Heplisav-B …show all Drug class[drugs.com] Abstract Hepatitis B virus (HBV) core protein (HBc) contains an N-terminal domain (NTD, assembly domain) and a C-terminal domain (CTD), which are linked by a flexible linker[ncbi.nlm.nih.gov] RESULTS: An increased anchorage-independent growth of cells transfected with HBx-WT and its deletion mutants was observed.[ncbi.nlm.nih.gov] Hepatitis B Basics Fact sheets and other information about hepatitis B and perinatal hepatitis B.[health.state.mn.us]

    Missing: Helix Loop Helix
  • Malignant Glioma

    Author information 1 State Key Laboratory of Medical Molecular Biology, Department of Molecular Biology and Biochemistry, Institute of Basic Medical Sciences, Medical Primate[ncbi.nlm.nih.gov] Molecular genetic analysis revealed allelic loss of chromosome 19q in the patient's second tumor but no allelic loss of chromosome 1p.[ncbi.nlm.nih.gov] Since 2002, the radiation dose was reduced to 80-90% dose of Protocol B because of acute radiation injury.[ncbi.nlm.nih.gov] Flow cytometric results revealed a marked increase in the S-phase (48%), whereas cytogenetic analysis of short-term cultures showed an abnormal karyotype containing marker[ncbi.nlm.nih.gov] The class 3 patients survived after the BNCT for 14, 16.5 and 23 months, and the class 4 patient survived 26 months, with favorable improvements in clinical symptoms.[ncbi.nlm.nih.gov] Abstract Intratumoral infusion of a recombinant targeted toxin (NBI-3001) consisting of the receptor binding domain of human interleukin 4 (IL-4) and Pseudomonas aeruginosa[ncbi.nlm.nih.gov] ., Extramural MeSH terms Animals Astrocytes/metabolism Basic Helix-Loop-Helix Transcription Factors/genetics* Basic Helix-Loop-Helix Transcription Factors/metabolism Cell[ncbi.nlm.nih.gov] Lesion volume was not statistically different between IDH1-WT and IDH1-M tumors.[ncbi.nlm.nih.gov] The genetic study to find the loss of heterozygosity (LOH) of VHL gene revealed that only the cerebellar hemangioblastoma showed allelic losses for the gene.[ncbi.nlm.nih.gov]

  • Hypobetalipoproteinemia

    Elsevier Health Sciences , ١٠‏/٠٤‏/٢٠١٤ - 1080 من الصفحات In a single, convenient volume , Pediatric Endocrinology offers complete coverage of all aspects of basic science[books.google.com] In the maternal apoB allele, there was a nonsense mutation.[ncbi.nlm.nih.gov] To assess the metabolism of apo B, 13C-leucine was infused and its rates of appearance in and disappearance from apo B-43.7- and apo B-100-containing particles were quantified[ncbi.nlm.nih.gov] Using immunoaffinity chromatography with an anti-apo B antiserum, we isolated apo B-containing lipoprotein (LpB) particles from the plasma of 4 ABL and 2 HBL patients.[ncbi.nlm.nih.gov] Anderson's disease is not due to the absence of synthesis of intestinal apo B and suggest that it is more complex than previously thought, affecting all the lipoprotein classes[ncbi.nlm.nih.gov] Biochemical and biophysical analyses of apoB domain constructs showed that L343V and R463W altered folding of the alpha-helical domain within the N terminus of apoB.[ncbi.nlm.nih.gov] Goldstein, JL, and Wang, X. (1993) SREBP-2, A Second Basic-Helix-Loop-Helix-Leucine Zipper Protein That Stimulates Transcription by Binding to a Sterol Regulatory Element.[books.google.com] H297Q, D384A, and G661A mutants also supported apoB secretion similarly to WT MTP. Contrary to these four missense mutations, D361Y was unable to support apoB secretion.[ncbi.nlm.nih.gov] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996 ; 13 : 399 -408. de Serres FJ .[clinchem.aaccjnls.org]

  • Corneal Dystrophies

    Ophthalmologists must keep abreast of all the new information, as our basic understanding as well as our classification systems are changing.[ncbi.nlm.nih.gov] Allele-specific cloning and sequencing were applied to evaluate the compound heterozygous mutation.[ncbi.nlm.nih.gov] […] a) Central Crystalline Dystrophy of Schnyder b) Fleck Dystrophy c) Fuch's Corneal Dystrophy d) Granular Dystrophy e) Lattice Dystrophy f) Macular Dystrophy g) Map-Dot-Fingerprint[goldsberry.org] The expression vector pCMV6_TGFBI containing wild-type, Arg-124, or Arg-555 mutations was transfected to HEK293 cells.[ncbi.nlm.nih.gov] Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. 5 5 Professor, Cornea, Cataract & Refractive Surgery Services, Dr[ncbi.nlm.nih.gov] Disease-causing mutants divided into two classes on the basis of the half-maximal [H(2)DIDS] required for resin displacement and the fraction of protein binding H(2)DIDS,[ncbi.nlm.nih.gov] […] model of the beta(ig)-h3 FAS1 domain 4.[ncbi.nlm.nih.gov] Structure and function of helix-loop-helix proteins. Biochim Biophys Acta 1994 ;1218: 129 - 135 22. Ephrussi A, Church GM, Tonegawa S, Gilbert W.[nejm.org] CHED2 alleles of SLC4A11 did not affect cell surface processing of WT SLC4A11.[ncbi.nlm.nih.gov]

  • Maturity-Onset Diabetes of the Young

    Basic kinetic analysis explained pathogenicity for 7 mutants which showed reduced glucokinase activity with relative activity indices (RAI) between 0.6 to[ncbi.nlm.nih.gov] […] the minor allele of rs6719578 (NEUROD1) was associated with an increase in insulin secretion in the metformin group but not in the placebo and lifestyle groups.[ncbi.nlm.nih.gov] C , Guignat L , Mosnier-Pudar H , Boitard C , M'Bemba J , Morbois L , Pelletier L , Skurnik G , Charpentier G , Réquéda E , Varroud M , Atlan C , Narbonne H , Vialettes B[ncbi.nlm.nih.gov] MODY: MODY1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY5 (HNF1B), and MODY8 (CEL) with a polycistronic lentiviral vector expressing a Cre-excisable human "stem cell cassette" containing[ncbi.nlm.nih.gov] Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and[ncbi.nlm.nih.gov] However, some new classes of oral antidiabetic drugs have also been tested and found to be effective in MODY patients.[ncbi.nlm.nih.gov] A347S affects a previously identified transcriptional regulatory domain 3 (TRD3) for which co-regulators remain unknown.[ncbi.nlm.nih.gov] […] liver-specific HNF1B HNF1BETA HNF2 LFB3 MODY5 TCF2 VHNF1 189907 11630 neuronal differentiation 1 beta-cell e-box transactivator 2 neurogenic differentiation 1 neurogenic helix-loop-helix[ukgtn.nhs.uk] In silico analysis showed that the pI of the tandem repeat was markedly increased from pH 3.3 in wild-type (WT) to 11.8 in mutant (MUT) human CEL.[ncbi.nlm.nih.gov]

  • Marburg Virus

    Under these limitations, a very few laboratories worldwide conducted basic research and countermeasure development for EBOV and MARV since their respective discoveries in[ncbi.nlm.nih.gov] Similarly, a cathepsin B/L inhibitor blocked macrophage infection mediated by different EBOV-GPs.[ncbi.nlm.nih.gov] And we are confident that with this rapid support from partners, we will be able to contain it very quickly.” WHO has confirmed two deaths.[voanews.com] Paweska JT 1 , Jansen van Vuren P 2 , Fenton KA 3 , Graves K 3 , Grobbelaar AA 4 , Moolla N 4 , Leman P 4 , Weyer J 2 , Storm N 4 , McCulloch SD 5 , Scott TP 5 , Markotter[ncbi.nlm.nih.gov] Unique insights into the spatiotemporal dynamics of nucleocapsids and their interaction with the cytoskeleton and motor proteins can lead to novel classes of antivirals that[ncbi.nlm.nih.gov] […] particles by the matrix protein VP40, the role of the short cytoplasmic domain has remained enigmatic.[ncbi.nlm.nih.gov] […] and helix-turn-helix segments.[ncbi.nlm.nih.gov] , coexpression of eVP40-WT with mVP40-DeltaLPLGIM successfully rescued budding of mVP40-DeltaLPLGIM into VLPs at mVP40-WT levels.[ncbi.nlm.nih.gov] These include basic hand hygiene, respiratory hygiene, use of personal protective equipment (to block splashes or other contact with infected materials), safe injection practices[who.int]

    Missing: Allele
  • Campylobacter Jejuni

    Caporale' , Teramo , Italy. 10 Institute of Basic Medical Sciences, Department of Biostatistics, Faculty of Medicine, University of Oslo , Oslo , Norway.[ncbi.nlm.nih.gov] The increasing availability of bacterial genomes provides data on allelic variation at loci across the genome, providing the potential to improve the discriminatory power[ncbi.nlm.nih.gov] The genes targeted were rpo B as genus specific, hip O for species; cdt A, cdt B, cdt C encoding respective subunit proteins of CDT with Internal Amplification Control (IAC[ncbi.nlm.nih.gov] Subsequent work identified a PAS domain-containing regulator, termed HeuR, as being required for chicken colonization.[ncbi.nlm.nih.gov] […] using RFBS24 ver.5 and evaluated the correlation between the cycle threshold (CT) value of RFBS24 ver.5 and the BC results.[ncbi.nlm.nih.gov] Chicken and human isolates generally had similar distributions of the putative virulence genes and LOS locus classes studied.[ncbi.nlm.nih.gov] However, the lack of capsule and MeOPN did not alter IL-6 and IL-10 expression in chBMMs and hMDMs compared to C. jejuni WT.[ncbi.nlm.nih.gov] Campylobacter jejuni (FDA) From the Bad Bug Book ; provides basic facts, including associated foods, frequency of disease, complications, and target populations.[foodsafety.gov] Patient B declared that he and patient A had ingested chicken prior to returning from their tourist trip.[ncbi.nlm.nih.gov]

    Missing: Helix Loop Helix
  • Congenital Myasthenic Syndrome

    A prolonged open time of the acetylcholine-induced ion channel is considered to be the basic abnormality and may account for the physiological, morphological, and clinical[ncbi.nlm.nih.gov] Lack of shared mutant alleles between the Japanese and the other patients suggests that most mutations described here are ethnically unique or de novo in each family.[ncbi.nlm.nih.gov] 13 , Najmabadi H 13 , Rodolico C 15 , Sieb JP 16 , Schlotter B 1 , Schoser B 1 , Herrmann R 17 , Voit T 18 , Steinlein OK 19 , Najafi A 20 , Urtizberea A 21 , Soler DM 22[ncbi.nlm.nih.gov] MiR-206* efficiently reduced the expression of reporter constructs containing the mutated 3'-UTR while no such effect was observed with reporter constructs containing the[ncbi.nlm.nih.gov] Aharoni S 1 , Sadeh M 2 , Shapira Y 3 , Edvardson S 3 , Daana M 3 , Dor-Wollman T 3 , Mimouni-Bloch A 4 , Halevy A 5 , Cohen R 5 , Sagie L 6 , Argov Z 7 , Rabie M 5 , Spiegel[ncbi.nlm.nih.gov] This study provides class IV evidence that salbutamol given at a dose 6 mg/day improves function as measured by the QMG score, ADL-MG score and 6 minute walk test.[ncbi.nlm.nih.gov] To the best of our knowledge, this is the first mutation in the TPR6 domain and might give supportive evidence to the role of this domain in rapsyn self association and consequently[ncbi.nlm.nih.gov] Abstract Myogenic determination factors are basic helix-loop-helix proteins that govern specification and differentiation of muscle cells, and bind to the E-box consensus[ncbi.nlm.nih.gov] We show that agrin-induced gene expression is significantly reduced by the N-box mutant (mt) compared with the wild-type (wt) promoter.[ncbi.nlm.nih.gov]

  • Waardenburg Syndrome

    MITF encodes a basic helix-loop-helix transcription factor that activates transcription of tyrosinase and other melanocyte proteins.[ncbi.nlm.nih.gov] […] syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B)[ncbi.nlm.nih.gov] Electron microscopic examination showed a significant (p 0.0001) reduction in melanosome size in the blue iris, and the nerve endings contained fewer vesicles.[ncbi.nlm.nih.gov] Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients.[ncbi.nlm.nih.gov] B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked[en.wikipedia.org] A thickened choroid was seen on enhanced-depth imaging spectral-domain optical coherence tomography (EDI SD-OCT).[ncbi.nlm.nih.gov] […] and acted as a dominant-negative repressor impairing function of the WT SOX10.[ncbi.nlm.nih.gov] Academy of Sciences, Beijing, 100049, China. 7 School of Life Sciences, Tsinghua University, Beijing, 100084, China. 8 Department of Laboratory Animal Science, College of Basic[ncbi.nlm.nih.gov] Three genes are known to be involved in this syndrome, that is, EDN3 (endothelin-3), EDNRB (endothelin receptor type B), and SOX10.[ncbi.nlm.nih.gov]