Publications:

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: TTN: G23566R; rs55801134

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1

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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Human Mutation

Bryen, Samantha J SJ; Ewans, Lisa J LJ; Pinner, Jason J; MacLennan, Suzanna C SC; Donkervoort, Sandra S; Castro, Diana D; Töpf, Ana A; O'Grady, Gina G; Cummings, Beryl B; Chao, Katherine R KR; Weisburd, Ben B; Francioli, Laurent L; Faiz, Fathimath F; Bournazos, Adam M AM; Hu, Ying Y; Grosmann, Carla C; Malicki, Denise M DM; Doyle, Helen H; Witting, Nanna N; Vissing, John J; Claeys, Kristl G KG; Urankar, Kathryn K; Beleza-Meireles, Ana A; Baptista, Julia J; Ellard, Sian S; Savarese, Marco M; Johari, Mridul M; Vihola, Anna A; Udd, Bjarne B; Majumdar, Anirban A; Straub, Volker V; Bönnemann, Carsten G CG; MacArthur, Daniel G DG; Davis, Mark R MR; Cooper, Sandra T ST

Publication Date: 2020-02

Variant appearance in text: TTN: 70696G>C; Gly23566Arg

PubMed Link: 31660661

Variant Present in the following documents:

• Main text

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: TTN: G23566R; rs55801134

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 6
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4
• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: TTN: G23566R; rs55801134

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Embo Molecular Medicine

Friedrich, Corinna C; Rinné, Susanne S; Zumhagen, Sven S; Kiper, Aytug K AK; Silbernagel, Nicole N; Netter, Michael F MF; Stallmeyer, Birgit B; Schulze-Bahr, Eric E; Decher, Niels N

Publication Date: 2014-07

Variant appearance in text: TTN: Gly23566Arg; rs55801134

PubMed Link: 24972929

Variant Present in the following documents:

• emmm0006-0937-SD4.pdf

View BVdb publication page