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Onderzoekspublicaties voor SETBP1-HD

4714534 DZWV2TAQ artikelen 1 water 5 datumGewijzigd DATE_MODIFIED 1 titel 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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Wang, L., Wang, X., en Yang, B. (2023). Roman SETBP1 mutatie in een Chinees gezin met een verstandelijke beperking. 16(1), 233. https://doi.org/10.1186/s12920-023-01649-x

Jansen, NA, Braden, RO, Srivastava, S., Otness, EF, Lesca, G., Rossi, M., Nizon, M., Bernier, RA, Quelin, C., van Haeringen, A., Kleefstra, T ., Wong, MMK, Whalen, S., Fisher, SE, Morgan, AT, & van Bon, BW (2021). Klinische afbakening van SETBP1 haplo-insufficiëntie stoornis. European Journal of Human Genetics, 29, 1198-1205.

Morgan, A., Braden, R., Wong, MMK, Collin, E., Amor, D., Liegeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranguin, K., Fisher , SE, & van Bon, BW (2021). Spraak- en taalgebreken staan centraal SETBP1 haploinsufficiëntie stoornis (SETBP1-HD). European Journal of Human Genetics, 29(29), 1216–1225. https://doi.org/10.1038/s41431-021-00894-x

Wong, MM, Kampen, RA, Braden, RO, Alagöz, G., Hildebrand, MS, Barnett, C., Barnett, M., Brusco, A., & Fisher, SF (zd). SETBP1 varianten buiten de degron verstoren de DNA-binding en transcriptie, onafhankelijk van de overvloed aan eiwitten, waardoor een heterogene neurologische ontwikkelingsstoornis ontstaat. https://doi.org/10.1101/2022.03.04.22271462

Meziane, H., Birling, M., Wendling, O., & Herault, Y. (2022). Grootschalige functionele beoordeling van genen die betrokken zijn bij zeldzame ziekten met een verstandelijke beperking ontrafelt unieke ontwikkelings- en gedragsprofielen in muismodellen. Biomedicijnen, 10(12), 3148.

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Whitlock, J., Wilk, E., Howton, T., Clark, A., en Lasseigne, B. (2024). Het landschap van SETBP1 genexpressie en transcriptiefactoractiviteit in menselijke weefsels. 19(1), e0296328. https://doi.org/10.1371/journal.pone.0296328

Antonyan, L., & Ernst, C. (2022). Vermeende rollen van SETBP1 Dosering op het SET-oncogen om de hersenontwikkeling te beïnvloeden. Grenzen in de neurowetenschap, 16(813430).

Kohyanagi, N., en Ohama, T. (2023). De impact van SETBP1 mutaties in neurologische ziekten en kanker. Genen naar cellen.

Rakhlin, N., Landi, N., Lee, M., Magnuson, JS, Naumova, OY, Ovchinnikova, IV, & Grigorenko, EL (2020). Cohesie van corticale taalnetwerken tijdens tekstverwerking wordt voorspeld door een gemeenschappelijk polymorfisme in de SETBP1 Gen. Nieuwe richtlijnen voor de ontwikkeling van kinderen en adolescenten, 2020(169).

Perdue, MV, SaraMascheretti, S., Sergey A.Kornilov, SAK, Jasińska, KK, Ryherd, K., Mencl, WE, Frost, SJ, Grigorenko, EL, Pugh, KR, & Landi, N. (2018). Gemeenschappelijke variatie binnen de SETBP1 gen wordt geassocieerd met leesgerelateerde vaardigheden en patronen van functionele neurale activering. Neuropsychologia.

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Onderzoekspublicaties voor Schinzel-Giedion Syndrome (SGS)

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Whitlock, J., Soelter, T., Howton, T., Wilk, E., Oza, V., en Lasseigne, B. (2023). Celtype-specifieke genexpressie en regulatie in de hersenschors en de nieren van atypische Setbp1S858R Schinzel Giedion-syndroommuizen. 27(22), 3565–3577. https://doi.org/10.1111/jcmm.18001

Carvalho, E., Honjo, R., Magalha˜es, M., Chong, K., en Bertol, D. (2014). Schinzel-Giedion-syndroom bij twee Braziliaanse patiënten: rapport van een nieuwe mutatie in SETBP1 en literatuuroverzicht van de klinische kenmerken. American Journal of Medical Genetics, Deel A(167A), 1039–1046.

Antonyan, L., & Ernst, C. (2022). Vermeende rollen van SETBP1 Dosering op het SET-oncogen om de hersenontwikkeling te beïnvloeden. Front Neurosci, 16:813430(813430).

Banfi, F., Rubio, A., Zaghi, M., Massimino, L., Piazza, R., Mologni, L., Broccoli, V., & Sessa, A. (2021). SETBP1 accumulatie induceert P53-remming en genotoxische stress in neurale voorlopers die ten grondslag liggen aan neurodegeneratie bij het Schinzel-Giedion-syndroom. Nature Communications, 12(4050). https://doi.org/https://doi.org/10.1038/s41467-021-24391-3

Herenger, Y., Stoetzel, C., Schaefer, E., Scheidecker, S., Manière, MC, Pelletier, V., & Dollfus, H. (2015). Langdurige follow-up van twee onafhankelijke patiënten met Schinzel-Giedion-drager SETBP1 mutaties. Europees tijdschrift voor medische genetica, 58(9), 479-487.

Lees meer over het syndroom van Schinzel-Giedion (SGS)> (overexpressie van SETBP1)

Onderzoekspublicaties voor SETBP1-gerelateerde kanker (niet geassocieerd met SETBP1-HD)

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Piazza, R., Magistroni, V., Redaelli, S., Mauri, M., Massimino, L., Sessa, A., Peronaci, M., Lalowski, M., Soliymani, R., Mezzatesta, C., Pirola, A., Banfi, F., Rubio, A., Rea, D., Stagno, F., Usala, E., Martino, B., Campiotti, L., Merli, M.,… Gambacorti-Passerini, C. (2018). SETBP1 induceert transcriptie van een netwerk van ontwikkelingsgenen door op te treden als een epigenetische hub. Nature Communications, 9(2192).

Stieglitz, E., Troup, CB, Gelston, LC, Haliburton, J., Chow, ED, Yu, KB, Akutagawa, J., Taylor-Weiner, AN, Liu, YL, Wang, Y., Beckman, K. , Emanuel, PD, Braun, BS, Abate, A., Gerbing, RB, Alonzo, TA, & Loh, ML (2015). Subklonale mutaties in SETBP1 verlenen een slechte prognose bij juveniele myelomonocytaire leukemie. Bloed, 125(3), 516-524.

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