Phenotypic and genetic spectrum of ATP6V1A encephalopathy:a disorder of lysosomal homeostasis

Autor: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

Vacuolar-type H⁺-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

Autor: Srivastava, AK, Wang, Y, Huang, R, Skinner, C, Thompson, T, Pollard, L, Wood, T, Luo, F, Stevenson, R, Polimanti, R, Gelernter, J, Lin, X, Lim, IY, Wu, Y, Teh, AL, Chen, L, Aris, IM, Soh, SE, Tint, MT, MacIsaac, JL, Yap, F, Kwek, K, Saw, SM, Kobor, MS, Meaney, MJ, Godfrey, KM, Chong, YS, Holbrook, JD, Lee, YS, Gluckman, PD, Karnani, N, GUSTO study group, Kapoor, A, Lee, D, Chakravarti, A, Maercker, C, Graf, F, Boutros, M, Stamoulis, G, Santoni, F, Makrythanasis, P, Letourneau, A, Guipponi, M, Panousis, N, Garieri, M, Ribaux, P, Falconnet, E, Borel, C, Antonarakis, SE, Kumar, S, Curran, J, Blangero, J, Chatterjee, S, Akiyama, J, Auer, D, Berrios, C, Pennacchio, L, Donti, TR, Cappuccio, G, Miller, M, Atwal, P, Kennedy, A, Cardon, A, Bacino, C, Emrick, L, Hertecant, J, Baumer, F, Porter, B, Bainbridge, M, Bonnen, P, Graham, B, Sutton, R, Sun, Q, Elsea, S, Hu, Z, Wang, P, Zhu, Y, Zhao, J, Xiong, M, Bennett, David A, Hidalgo-Miranda, A, Romero-Cordoba, S, Rodriguez-Cuevas, S, Rebollar-Vega, R, Tagliabue, E, Iorio, M, D’Ippolito, E, Baroni, S, Kaczkowski, B, Tanaka, Y, Kawaji, H, Sandelin, A, Andersson, R, Itoh, M, Lassmann, T, The FANTOM5 Consortium, Hayashizaki, Y, Carninci, P

Publikováno v: Human genomics, vol 10 Suppl 1, iss Suppl 1

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::c898008b1ebaba6de2ed58a103d0f7f6
https://escholarship.org/uc/item/701873z5

Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact

Autor: Weise, A, Kosyakova, N, Mrasek, K, Ewers, E, Bacino, C, Patel, A, Cheung, SW, Cai, WW, Senger, G, Melo, JB, Carreira, IM, Dufke, A, Mehnert, K, Yardin, C, Wegner, RD, Stumm, M, Kistner, G, Leipoldt, M, Thiel, G, Petersen, MB, Junge, A, Fritz, B, Joksic, G, Heilbronner, H, Ujfalusi, A, Brecevic, L, Hamid, AB, Merkas, M, Liehr, T.

Array-comparative genomic hybridization (aCGH) was done in 64 small supernumerary marker chromosomes (sSMC). The studied sSMC-specific DNA was derived from glass-needle based microdissection, avoiding by that the problem of mosaicism as present in ~4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::e4d3b311f7b1344c3ccbe0b89c0ee914
https://www.bib.irb.hr/461160

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