Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Autor: Hardies, K, Cai, Y, Jardel, C, Jansen, Ac, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, Sa, Helbig, Kl, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, Afawi, Z, Baulac, S, Barisic, N, Caglayan, H, Craiu, D, De Kovel CG, Lopez, Rg, Guerrini, R, Hjalgrim, H, Lerche, H, Jahn, J, Klein, Km, Koeleman, Bc, Leguern, E, Lemke, J, Marini, C, Muhle, H, Rosenow, F, Serratosa, Jm, Štěrbová, Ks, Møller, Rs, Palotie, A, Striano, P, Weber, Y, Zara, F.

Publikováno v: Hardies, K, Cai, Y, Jardel, C, Jansen, A C, Cao, M, May, P, Djémié, T, Hachon Le Camus, C, Keymolen, K, Deconinck, T, Bhambhani, V, Long, C, Sajan, S A, Helbig, K L, Suls, A, Balling, R, Helbig, I, De Jonghe, P, Depienne, C, De Camilli, P, Weckhuysen, S, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2016, ' Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline ', Brain, vol. 139, no. 9, pp. 2420-2430 . https://doi.org/10.1093/brain/aww180
Brain

SYNJ1 encodes a polyphosphoinositide phosphatase (Synaptojanin 1) with a prominent role in synaptic vesicle dynamics. Hardies et al. report three families (six patients) with autosomal recessive SYNJ1 variants, who display early-onset refractory seiz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd42340579b3b03b62e8e3ec7cc4317
https://portal.findresearcher.sdu.dk/da/publications/05f17da4-d544-415c-a1e4-0c98d4a00697

Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).

Autor: Asna Ashari, Kosar^1,2,3,4 (AUTHOR), Parvaneh, Nima^1,2 (AUTHOR), Mirnia, Kayvan^1,2 (AUTHOR), Ayati, Mehri^2,5 (AUTHOR), Saeedi, Maryam^1,2 (AUTHOR), Salehzadeh, Farhad^3,6 (AUTHOR), Shahrooei, Mohammad⁷ (AUTHOR), Sangsari, Razieh^1,2 (AUTHOR), Rohani, Pejman^1,2,8 (AUTHOR), Ziaee, Vahid^1,2,3,4,9 (AUTHOR) ziaeev@gmail.com

Publikováno v: Pediatric Rheumatology. 10/18/2024, Vol. 22 Issue 1, p1-7. 7p.

Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Autor: Wei, Xiaojiao^1,2 (AUTHOR), Ma, Yunting¹ (AUTHOR), Xie, Bobo^3,4 (AUTHOR), Gui, Chunrong^3,4 (AUTHOR), Shi, Meizhen^3,4 (AUTHOR), Wei, Xianda^3,4 (AUTHOR), Huang, Yan⁵ (AUTHOR), Fan, Xin^2,4 (AUTHOR), Wei, Qiaozhen² (AUTHOR), Huang, Qingmei² (AUTHOR), Deng, Li⁵ (AUTHOR), Zhang, Chi⁶ (AUTHOR), Deng, Xiaoli⁶ (AUTHOR), Gui, Baoheng^1,3,4 (AUTHOR) BaohengGui@yeah.net, Chen, Yujun^1,2,4 (AUTHOR) chenyujun1006@163.com

Publikováno v: BMC Medical Genomics. 5/21/2024, Vol. 17 Issue 1, p1-8. 8p.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Autor: Volker-Touw CM; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., de Koning HD; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Kempen TS; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., Oberndorff KM; Department of Pediatrics, Atrium-Orbis Medical Centre, Sittard, the Netherlands., Boes ML; Department of Pediatric Immunology, Laboratory of Translational Immunology (LTI), University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Steensel MA; Division of Cancer Research, School of Medicine, University of Dundee, Dundee, U.K.; Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.; Institute of Medical Biology, Singapore., van Well GT; Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands., Blokx WA; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., Schalkwijk J; Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands., Simon A; Department of General Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Frenkel J; Department of Pediatrics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands., van Gijn ME; Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2017 Jan; Vol. 176 (1), pp. 244-248. Date of Electronic Publication: 2016 Dec 08.

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