| Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features. | Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
Turkevi-Nagy S, Báthori Á, Böcz J, Krenács L, Cserni G, Kővári B., Free PMC Article | 02/12/2022 |
| Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. | Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Krenn M, Schloegl M, Pataraia E, Gelpi E, Schröder S, Rauscher C, Mayr JA, Kotzot D, Zimprich F, Meitinger T, Wagner M. | 07/17/2021 |
| These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies. More often, loss-of-function mutations were found in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. | Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J., Free PMC Article | 12/14/2019 |
| Strong deregulation of SNAP25 and STX1B has been found at both mRNA and protein levels suggesting impaired synaptic function through SNAP25 reduction as a possible cause of calcium elevation and glutamate excitotoxicity in amyotrophic lateral sclerosis. | Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.
D'Erchia AM, Gallo A, Manzari C, Raho S, Horner DS, Chiara M, Valletti A, Aiello I, Mastropasqua F, Ciaccia L, Locatelli F, Pisani F, Nicchia GP, Svelto M, Pesole G, Picardi E., Free PMC Article | 04/27/2019 |
| that a sleep-related hypermotor epilepsy phenotype can be associated with syntaxin-1B gene mutation | Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.
Peres J, Antunes F, Zonjy B, Mitchell AL, Lhatoo SD. | 02/9/2019 |
| genetic variations in STX1B, DNMT3A and CYP1A1 have roles in influencing warfarin maintenance dose | Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy.
Luo Z, Li X, Zhu M, Tang J, Li Z, Zhou X, Song G, Liu Z, Zhou H, Zhang W. | 01/6/2018 |
| Transcranial magnetic stimulation measures of motor cortex excitability show normal excitability in adult STX1B mutation carriers with a history of seizures. | Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures.
Stefanou MI, Desideri D, Marquetand J, Belardinelli P, Zrenner C, Lerche H, Ziemann U. | 12/2/2017 |
| 529 adults (n = 325 European-Americans, 204 Egyptians) on a stable warfarin dose were genotyped for GGCX rs12714145 and rs10654848, FPGS rs7856096, and STX1B rs4889606. | Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians.
Hamadeh IS, Shahin MH, Lima SM, Oliveira F, Wilson L, Khalifa SI, Langaee TY, Cooper-DeHoff RM, Cavallari LH, Johnson JA., Free PMC Article | 11/19/2016 |
| Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease | No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
Chen Y, Yuan X, Cao B, Wei Q, Ou R, Yang J, Chen X, Zhao B, Song W, Wu Y, Shang H. | 09/3/2016 |
| The data of this study suggested that the STX1B polymorphisms are associated with Parkinson disease etiology. | The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.
Wang JY, Gong MY, Ye YL, Ye JM, Lin GL, Zhuang QQ, Zhang X, Zhu JH. | 11/21/2015 |
| Data indicate that single nucleotide polymorphism (SNPS) in the 3'-untranslated region of the fucosyltransferase 1 (FUT1) gene and intron of the syntaxin 1B (STX1B) gene were the top hits for Kawasaki disease (KD) susceptibility. | High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study.
Shendre A, Wiener HW, Zhi D, Vazquez AI, Portman MA, Shrestha S., Free PMC Article | 07/25/2015 |
| STX1B and the presynaptic release machinery may have a role in fever-associated epilepsy syndromes | Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP, EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. | 01/24/2015 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| The STX1B-Delta transmembrane domain is characterized as the first nucleoplasmic syntaxin with no transmembrane domain. | Nuclear localization of a novel human syntaxin 1B isoform.
Pereira S, Massacrier A, Roll P, Vérine A, Etienne-Grimaldi MC, Poitelon Y, Robaglia-Schlupp A, Jamali S, Roeckel-Trevisiol N, Royer B, Pontarotti P, Lévêque C, Seagar M, Lévy N, Cau P, Szepetowski P. | 01/21/2010 |