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18 Possible Causes for Protein, Syntaxin 1B

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  • Tetanus

    KEYWORDS: ExAC; SNAP-25; VAMP-1/2; botulinum neurotoxin; gnomAD; syntaxin-1A/1B; tetanus neurotoxin[ncbi.nlm.nih.gov] KEYWORDS: HIV; chimeric protein; lentiviral; neutralization; tetanus[ncbi.nlm.nih.gov] RESULTS: Vaccination with a TT-carrier protein induced a mixed TT-specific Th1 (IFNγ), Th2 (IL13, IL10), and Th17 (IL17) response in most participants.[ncbi.nlm.nih.gov]

  • Myoclonic-Astatic Epilepsy

    Furthermore, STX1B encodes for syntaxin-1B, of which interaction with the protein encoded by the STXBP1 gene is essential for the regulation of the synaptic transmission of[ncbi.nlm.nih.gov] Abstract The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic[ncbi.nlm.nih.gov] Furthermore, STX1B encodes for syntaxin-1B, of which interaction with the protein encoded by the STXBP1 gene is essential for the regulation of the synaptic transmission of[ncbi.nlm.nih.gov]

  • Familial Febrile Convulsions 4

    STX1B encodes a protein called syntaxin-1B.[blogs.nature.com] If mildly or moderately unwell, the child should be observed closely and the following investigations should be performed Urine microscopy Full blood count C Reactive Protein[emed.ie] The GABRG2 gene encodes additional GABA receptor protein, and mutations in this gene have primarily been associated with generalized epilepsy with febrile seizures (7/26).[centogene.com]

  • Generalized Epilepsy with Febrile Seizures-plus Type 4

    (PMID: 25362483) Schubert J … Lerche H (Nature genetics 2014) 3 4 60 Nuclear localization of a novel human syntaxin 1B isoform.[genecards.org] Definition according to profiles of lymphokine activities and secreted proteins. J. Immunol., 136, 2348-57. ‏[books.google.com] Nat Genet 28(1):46–48 CrossRef PubMed Google Scholar Dibbens LM, Feng HJ et al. (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility[link.springer.com]

  • Diazoxide

    CONCLUSION: In conclusion, Syn-1A (and Syn-1B) could inhibit K(ATP) currents activated by SUR2A-acting KCOs.[ncbi.nlm.nih.gov] These effects coincided with activation of the transcription factors cAMP-response element-binding protein (CREB) and NFkappaB.[ncbi.nlm.nih.gov] WHAT IS KNOWN: Diazoxide binds to plasma proteins 90% and excreted in urine. Dose adjustment is recommended in patients with impaired kidney functions.[ncbi.nlm.nih.gov]

  • Familial Febrile Convulsions Type 6

    STX1B encodes a protein called syntaxin-1B.[blogs.nature.com] […] phosphatase 2, regulatory subunit B, beta ( PPP2R2B ); Atassia spinocerebellare, tipo 17 (SCA17) : gene TATA box binding protein ( TBP ); Atassia spinocerebellare, tipo 14[isn.cnr.it] -1B, were found in 6 families with FS and epilepsy. 11 We performed whole-exome sequencing in a large French family with FS and temporal lobe epilepsy (TLE) and identified[ng.neurology.org]

  • Familial Febrile Seizures 1

    STX1B encodes a protein called syntaxin-1B.[blogs.nature.com] […] of interest and yellow fluorescent protein (YFP) as reporter, obtaining the plasmid pIRES-YFP-hβ 1 .[pnas.org] -1B, were found in 6 families with FS and epilepsy. 11 We performed whole-exome sequencing in a large French family with FS and temporal lobe epilepsy (TLE) and identified[ng.neurology.org]

  • Benign Adult Familial Myoclonic Epilepsy

    -1B mutation.[amedeo.com] Abstract We identified a novel giant gene encoding a transmembrane protein with CUB and sushi multiple domains on the human chromosome 8q23.3-q24.1 in which benign adult familial[ncbi.nlm.nih.gov] Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. ( 12707452 ) de Falco F.A....Zara F. 2003 14 A novel giant gene CSMD3 encoding a protein[malacards.org]

  • Pseudohypoparathyroidism Type 1B

    Molecular pathology Pseudohypoparathyroidism type 1B is caused by defects of: (1) STX1A, which encodes a syntaxin/target-SNAP receptor that allows specific synaptic vesicle[medical-dictionary.thefreedictionary.com] BACKGROUND: In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein α-subunit, skeletal disorders can arise from[ncbi.nlm.nih.gov] One autosomal dominant form of PHP type 1b (PHP-Ib) is most frequently caused by a maternally inherited 3-kb deletion within STX16, the gene encoding syntaxin 16.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group C

    1B); SULT1A1 (Sulfotransferase Familie 1A, Phenol-bevorzugend, Mitglied 1); SULT1A3 (Sulfotransferase Familie 1A, Phenol-bevorzugend, Mitglied 3); SULT2A1 (Sulfotransferase[google.mk] Abstract The human homolog of the yeast DNA repair protein RAD23, hHR23A, has been found previously to interact with the human immunodeficiency virus, type 1 accessory protein[ncbi.nlm.nih.gov] 4 DNA Repair Protein Complementing XP-C Cells 3 Xeroderma Pigmentosum Group C Protein 2 Mutant Xeroderma Pigmentosum Group C 3 RAD4 3 XP3 3 External Ids for XPC Gene Previous[genecards.org]

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