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6,104 Possible Causes for 2,, B',, gamma, isoform, phosphatase, protein, pseudogene, regulatory, subunit

Did you mean: 2, B', gumma, isoform, phosphatase, proteus, pseudogene, regulatory, subunit

  • Phosphorylase Kinase Deficiency

    Column 2: 5ml HiTrap S Column 2 Buffers : Buffer A: 25 mM HEPES, pH 7.0; 200 mM NaCl; 0.5 mM TCEP. Buffer B: 25 mM HEPES, pH 7.0; 2 mM NaCl; 0.5 mM TCEP.[thesgc.org] A pseudogene has been found on chromosome 1.[genecards.org] […] phos·phor·y·lase b ki·nase de·fi·cien·cy/ an X-linked disorder of glycogen storage due to deficiency of the enzyme in the liver, characterized in affected males by hepatomegaly[medical-dictionary.thefreedictionary.com] The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic[ncbi.nlm.nih.gov] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] […] storage diseases such as GSD due to liver phosphorylase deficiency (GSD type VI), GSD due to glycogen debranching enzyme deficiency (GSD type III), and GSD due to glucose-6-phosphatase[orpha.net] The complete coding sequences of the liver gamma subunit and of the beta subunit of phosphorylase kinase of the proband were analyzed for the presence of mutations, by either[ncbi.nlm.nih.gov] […] facilitate mutation analysis of patients with an autosomal recessive form of liver phosphorylase kinase deficiency, the genomic structure of the gene encoding the testis/liver gamma[ncbi.nlm.nih.gov] […] of the beta subunit, and the muscle isoform of the gamma subunit.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    […] regulatory subunit, gamma 2 phosphorylase kinase, gamma 2 (testis) phosphorylase kinase, testis/liver, gamma-2 PHKG2 172471 8931[ukgtn.nhs.uk] Two pseudogenes have been found on chromosomes 14 and 20, respectively.[genecards.org] A., Philip, B. A. and Caskey, C. T.[link.springer.com] […] kinases such as protein kinase A (PKA, cAMP-dependent kinase).[en.wikipedia.org] PHKB 78 Annotation score: H3BQ89 H3BQ89_HUMAN Phosphorylase b kinase regulatory s...[uniprot.org] PHKG1 390 Annotation score: C9JME8 C9JME8_HUMAN Phosphorylase b kinase gamma cataly...[uniprot.org] Two processed pseudogenes have been identified: PHKBP1 on chromosome 20p12.3-20p12.2 and PHKBP2 on chromosome 14q13.3 [ Wüllrich-Schmoll & Kilimann 1996 ].[ncbi.nlm.nih.gov] Cells of tissues that lack glucose 6-phosphatase retain glucose 6-phosphate for internal carbohydrate metabolism.[sandwalk.blogspot.com] The products of PIP 2 hydrolysis are DAG and IP 3 .[themedicalbiochemistrypage.org]

  • X-Linked Severe Combined Immunodeficiency

    Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene; namely, we detected the novel mutation within exon 2 (221 C-- A),[ncbi.nlm.nih.gov] Patients 22, 23 and 24 were three siblings with the homologue recombination between the NCF1 gene and its pseudogene.[ddd.uab.cat] CD27 is a marker of memory B cells.[ncbi.nlm.nih.gov] This case raises the question of how a dysfunctional protein incapable of mediating STAT5 phosphorylation might nonetheless support T-cell development.[ncbi.nlm.nih.gov] Vectors incorporating an internal human elongation factor-1alpha regulatory element were capable of fully restoring the lymphoid differentiation potential of gammac-deficient[ncbi.nlm.nih.gov] Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat. Med. 2000. 6 :343-345. Dadi, HK, Simon, AJ, Roifman, CM.[jci.org] Abstract Genetic evidence suggests that mutations in the gamma(c) receptor subunit cause X-linked severe combined immunodeficiency (X-SCID).[ncbi.nlm.nih.gov] […] chain gene, a subunit shared by the receptors for IL-4, IL-7, IL-9, and IL-15 (common gamma chain; gamma c).[ncbi.nlm.nih.gov] CD3 T cells after transplantation expressed the CD45RA isoform indicating that the cells were recent thymic emigrants derived from immature progenitors.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    […] regulatory subunit, gamma 2 phosphorylase kinase, gamma 2 (testis) phosphorylase kinase, testis/liver, gamma-2 PHKG2 172471 8931[ukgtn.nhs.uk] Two pseudogenes have been found on chromosomes 14 and 20, respectively.[genecards.org] Synopsis : Liver phosphorylase b kinase (PhK) deficiency caused due to mutations in X-linked PHKA2 is highly variable.[link.springer.com] ITPR1 isoform 1 is a 2710 amino acid protein, isoform 2 is a 2695 amino acid protein, and isoform 3 is a 2743 amino acid protein.[themedicalbiochemistrypage.org] Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.[uniprot.org] […] storage diseases such as GSD due to liver phosphorylase deficiency (GSD type VI), GSD due to glycogen debranching enzyme deficiency (GSD type III), and GSD due to glucose-6-phosphatase[orpha.net] Deficiency of glucose-6-phosphate dehydrogenase Generalized glycogen storage disease of infants Glucose 6 phosphatase deficiency Glycogen storage disease Glycogen storage[icd9data.com] Most cases result from defects of phosphorylase b kinase, an enzyme that activates phosphorylase by phosphorylation.[checkorphan.org] It is inherited in an X-linked or autosomal recessive manner. [2] Signs and symptoms [ edit ] The signs and symptoms in glycogen storage disease type IX include: [2] Enlarged[en.wikipedia.org]

  • Interleukin-2

    […] low dose rIL-2.[doi.org] Evidence was presented to indicate that TCGF and RAF2, a pseudogene of the oncogene RAF1 (164760), is not closely linked to TCGF although it is on chromosome 4.[ncbi.nlm.nih.gov] The results showed that DSP30/IL2 was an effective mitogen in mature B-cell disorders, revealing abnormal cytogenetic results in a range of B-cell malignancies.[ncbi.nlm.nih.gov] RefSeq protein isoforms See the other reference sequence protein isoform for the IL2 gene (XP_016863666.1).[ncbi.nlm.nih.gov] IL-2, regulatory T cells, and tolerance. J Immunol 2004 ;172: 3983 - 3988 22. Soiffer RJ, Murray C, Gonin R, Ritz J.[nejm.org] Increased phosphorylation of VE-cadherin was also accompanied by a reduction of Src homology 2 domain-containing protein-tyrosine phosphatase 2, known to maintain vascular[ncbi.nlm.nih.gov] Interleukin-2 (IL-2) is an immunoregulatory cytokine that binds sequentially to the alpha (IL-2Ralpha), beta (IL-2Rbeta), and common gamma chain (gammac) receptor subunits[rcsb.org] Here, we present three cases of interferon-gamma release assay-positive patients with differing interferon-gamma and interleukin-2 signatures when analyzed by the Fluorospot[ncbi.nlm.nih.gov] […] show that MSC expression in human Th17 cells is retinoic acid orphan receptor (ROR)γt-dependent, and allows the upregulation of PPP2R2B, a regulatory member of the protein phosphatase[ncbi.nlm.nih.gov]

  • Carney Complex

    Chromosome 2 (2p16) abnormalities in Carney complex tumours L Matyakhina 1 , 5 , * , S Pack 2 , * , L S Kirschner 1 , E Pak 3 , P Mannan 2 , J Jaikumar 2 , S E Taymans 1 ,[jmg.bmj.com] Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences[fulgentgenetics.com] OBJECTIVE: The objective of the study was to study the antiproliferative effects of 8-Cl-ADO on growth and proliferation in B-lymphocytes of Carney complex patients that have[ncbi.nlm.nih.gov] 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] PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. ‏[books.google.com] 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] This type of calcium channel exists of four subunits (alpha, beta, gamma and alpha2–delta).[nature.com] An isoform-specific interface is revealed between the protomers.[ncbi.nlm.nih.gov] Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 12

    Table 2: Ayurvedic treatment given to a case of spinocerebellar ataxia-2 Click here to view Table 3: Panchakarma procedures adopted in a case of spinocerebellar ataxia-2 Click[ancientscienceoflife.org] Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa[uniprot.org] […] spots, which were confirmed as nine proteins by LC-MS/MS.[ncbi.nlm.nih.gov] […] presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory[ncbi.nlm.nih.gov] This hypothesis would predict that the mutation changes the regulation of protein phosphatase 2A, with implications for the phosphoproteome.[ncbi.nlm.nih.gov] Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.[jnnp.bmj.com] SCA12 is linked to a CAG repeat expansion mutation in exon 7 of PPP2R2B, a gene that encodes Bβ, a regulatory subunit of protein phosphatase 2A (PP2A).[ncbi.nlm.nih.gov] […] process protein phosphatase regulator activity regulation of phosphoprotein phosphatase activity peptidyl-serine dephosphorylation Ontology : EGO-EBI protein phosphatase[atlasgeneticsoncology.org] The disease is caused by an expansion of or 51 CAGs in the 5' region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene.[ncbi.nlm.nih.gov]

    Missing: pseudogene
  • Influenza

    Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug, 2,6-diamino-purine-2'-fluororiboside[ncbi.nlm.nih.gov] Rimmelzwaan 1 , B. E. E. Martina 2 , T. M. Bestebroer 1 , R. A. M.[doi.org] 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 problems (adverse events) related to a medicine or medical device used for treatment or in a procedure should be reported to the Medicines and Healthcare products Regulatory[guidance.nice.org.uk] Amplicons were prepared for sequencing by incubating them at 37  C for 60 min with 0.5 U of shrimp alkaline phosphatase (Amersham) and 1 U of exonuclease I (Amersham) to inactivate[dx.doi.org] 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] […] studies in which viral shedding was measured in volunteers challenged with wild-type influenza viruses [ 10 , 11 ], we modeled the kinetics of infectivity by using [l.c. gamma[dx.doi.org] This entry describes 2 isoforms i produced by ribosomal frameshifting .[uniprot.org] DOI: 10.1128/AAC.38.8.1864 ABSTRACT Single-dose treatments (5 to 40 mg/kg of body weight given intraperitoneally) of ferrets with 2'-deoxy-2'-fluoroguanosine or its prodrug[doi.org]

    Missing: pseudogene
  • Gamma-Heavy Chain Disease

    Of the 16 patients treated, 6 had a complete clinical response (in 2, gamma-heavy chain disappeared; in 2, gamma-heavy chain persisted; and for 2, no serologic follow-up was[ncbi.nlm.nih.gov] Furthermore, for IG and TR, there is an in-frame junction. pseudogene Identifies, whatever the molecule type, the functionality of sequences in undefined or germline configuration[imgt.org] Franklin's disease is associated with: (AIIMS May 11) A Gamma heavy chain disease B Multiple myeloma C Alpha heavy chain disease D Waldenström’s macroglobulinemia[gradestack.com] These findings suggest that this monoclonal protein is composed only of gamma heavy chains of normal and larger size.[ncbi.nlm.nih.gov] A liver biopsy was performed because of an elevated serum alkaline phosphatase concentration.[nejm.org] In the blood, the deleted HC could be associated with an LC, mostly of the λ isotype, or circulated in small amounts as a free unassembled subunit ( 7 ).[cjasn.asnjournals.org] In gamma heavy-chain disease, the FFGCs are often demonstrable in the urine, but are always present in the serum and migrate in the beta-gamma region.[ncbi.nlm.nih.gov] This entry has 1 described isoform and 1 potential isoform that is computationally mapped.[uniprot.org] 2 concurrent B-cell lymphoproliferative processes.[ncbi.nlm.nih.gov]

  • Chronic Granulomatous Disease

    The phagocytic cell enzyme NADPH oxidase-2 (Nox2) is critical for killing micro-organisms via production of reactive oxygen species and thus is a key element of the innate[ncbi.nlm.nih.gov] Moreover, recent CGD studies have revealed that recombination events between the p47-phox gene (NCF-1) and its pseudogenes not only cause the absence of p47-phox, but also[ncbi.nlm.nih.gov] The main genetic form is the X-linked CGD leading to the absence of cytochrome b 558 composed of NOX2 and p22 phox , the membrane partners of the NADPH oxidase complex.[ncbi.nlm.nih.gov] Either way, the substrate is represented by defects of one of the components of nicotinamide adenine dinucleotide phosphate oxidase, affected by regulatory-region, missense[symptoma.com] Histochemical estimates of the rate of release of alkaline phosphatase are normal in CGD cells.[dx.doi.org] This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox.[ncbi.nlm.nih.gov] No antibodies to interferon gamma were detected.[doi.org] Metallothionein was detected with an mAb that recognizes metallothionein isoforms I and II (αMT). Isotype, IgG1 isotype control Ab.[jimmunol.org] This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (psi s) and NCF-1.[ncbi.nlm.nih.gov]