Results 111 to 120 of about 11,986 (188)

An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation. [PDF]

J Neuromuscul Dis
Stinissen L, van de Camp SAJH, Simon B, Goldberg L, van Engelen BGM, Bevelander KE, Oortwijn W, Voermans NC, RYR1-RD patient survey study group.   +8 more
europepmc   +1 more source

Estimating the Prevalence of Malignant Hyperthermia Susceptibility Based on Causative <i>RYR1</i> and <i>CACNA1S</i> Variants. [PDF]

Int J Mol Sci
Efremova E, Baranova E, Esibov A, Rozhkova A, Rutkovskaya E, Krupinova J, Mityaeva O, Woroncow M, Abdullaev S, Mirzaev K, Bogdanov V, Volchkov P, Sychev D.   +12 more
europepmc   +1 more source

Functional Characterization of Patient-Derived Myotubes Carrying ANO5 and ORAI3 Variants in RYR1-Negative Malignant Hyperthermia Susceptibility. [PDF]

Genes (Basel)
Miyoshi H, Otsuki S, Kido K, Sumii A, Ikeda T, Xia G, Noda Y, Ishii T, Kamiya S, Narasaki S, Yeh HM, Chen PL, Ichihara Y, Mukaida K, Tsutsumi YM.   +14 more
europepmc   +1 more source

Ryanodine Receptor 1 Is Dispensable for CD4⁺ T-Cell Differentiation and Effector Function in Intestinal Inflammation Models. [PDF]

Eur J Immunol
Dostiar Tabrizi S, Nawrocki M, Bedke T, Böttcher M, Stumme F, Birus M, Möckl F, Hernandez L, Diercks BP, Gagliani N, Lodygin D, Flügel A, Guse AH, Mittrücker HW, Huber S.   +14 more
europepmc   +1 more source

Expression of the Human R163C-<i>RYR1</i> Gain-of-Function Mutation Modified 2,2',3,5',6-Pentachlorobiphenyl (PCB 95) Developmental Neurotoxicity in Weanling Mice. [PDF]

Int J Mol Sci
Barnhart CD, Wilson RJ, Sethi S, Chen H, Truong KM, Kania-Korwel I, Lehmler HJ, Pessah IN, Lein PJ.   +8 more
europepmc   +1 more source

Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]

Matern Health Neonatol Perinatol
Abaalkhayl M.
europepmc   +1 more source

Genomic and Transcriptomic Landscapes of MEN1-Wild-Type Low-Grade Metastatic Pancreatic NETs Uncover Key Oncogenic Drivers and Targetable Pathways. [PDF]

Int J Biol Sci
Uddin MH, Mahdi Z, Muqbil I, Herring BR, Rose B, Khan HY, Li Y, Aboukameel A, Bannoura SF, Jimenez H, Johansen AM, Al-Hallak MN, Azar I, Mohamed A, Hadid T, Vaishampayan N, Shi Y, Wan Y, Ong V, Dyson G, Beydoun R, Tobon M, Beal EW, Chen H, Shields AF, Philip PA, Beebe-Dimmer J, Mohammad RM, Pasche BC, El-Rayes BF, Azmi AS.   +30 more
europepmc   +1 more source

<i>RYR1</i> mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes. [PDF]

Front Immunol
Li H, Andrade PV, Ceren IH, Ruiz A, Silva AI, Farias MF, Zorzeto TS, Vainzof M, Zorzato F, Silva HCA, Treves S.   +10 more
europepmc   +1 more source

Single-Residue Substitution of Opicalcin1 Enhances Cellular Uptake but Reduces Ca²⁺-Release Activity. [PDF]

Chembiochem
Wang S, Hua X, Ma X, Wang L, Wang J, Liu H, Nie F, Zhao Y, Zhou Q, Valdivia HH, Xiao L, Wang J.   +11 more
europepmc   +1 more source

Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel <i>L2HGDH</i> Mutation with a Concurrent <i>RYR1</i> Variant. [PDF]

Genes (Basel)
Beyzaei Z, Dehghani SM, Geramizadeh B, Weiskirchen R.   +3 more
europepmc   +1 more source