Publications:

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Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors.

Journal For Immunotherapy Of Cancer

Marcu, Ana A; Schlosser, Andreas A; Keupp, Anne A; Trautwein, Nico N; Johann, Pascal P; Wölfl, Matthias M; Lager, Johanna J; Monoranu, Camelia Maria CM; Walz, Juliane S JS; Henkel, Lisa M LM; Krauß, Jürgen J; Ebinger, Martin M; Schuhmann, Martin M; Thomale, Ulrich Wilhelm UW; Pietsch, Torsten T; Klinker, Erdwine E; Schlegel, Paul G PG; Oyen, Florian F; Reisner, Yair Y; Rammensee, Hans-Georg HG; Eyrich, Matthias M

Publication Date: 2021-10

Variant appearance in text: RYR1: G249R

PubMed Link: 34599019

Variant Present in the following documents:

• jitc-2021-003404supp008.pdf

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Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Molecules (Basel, Switzerland)

Bauerová-Hlinková, Vladena V; Hajdúchová, Dominika D; Bauer, Jacob A JA

Publication Date: 2020-09-04

Variant appearance in text: RYR1: G249R

PubMed Link: 32899693

Variant Present in the following documents:

• Main text
• molecules-25-04040.pdf

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases

Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ

Publication Date: 2020-05-07

Variant appearance in text: RYR1: G249R

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

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Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.

The Journal Of General Physiology

Yamazawa, Toshiko T; Ogawa, Haruo H; Murayama, Takashi T; Yamaguchi, Maki M; Oyamada, Hideto H; Suzuki, Junji J; Kurebayashi, Nagomi N; Kanemaru, Kazunori K; Oguchi, Katsuji K; Sakurai, Takashi T; Iino, Masamitsu M

Publication Date: 2020-01-06

Variant appearance in text: RYR1: G249R

PubMed Link: 31841587

Variant Present in the following documents:

• Main text
• JGP_201812235.pdf

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Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.

Plos One

Murayama, Takashi T; Kurebayashi, Nagomi N; Yamazawa, Toshiko T; Oyamada, Hideto H; Suzuki, Junji J; Kanemaru, Kazunori K; Oguchi, Katsuji K; Iino, Masamitsu M; Sakurai, Takashi T

Publication Date: 2015

Variant appearance in text: RYR1: G249R

PubMed Link: 26115329

Variant Present in the following documents:

• pone.0130606.pdf

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Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.

Nature Communications

Kimlicka, Lynn L; Lau, Kelvin K; Tung, Ching-Chieh CC; Van Petegem, Filip F

Publication Date: 2013

Variant appearance in text: RYR1: G249R

PubMed Link: 23422674

Variant Present in the following documents:

• ncomms2501-s1.pdf

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