Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.
Heartrhythm Case Reports
van Bakel, Bram M A BMA; Kerstens, Thijs P TP; Arts, Ieva I; Evertz, Reinder R; Beukema, Rypko R; Boulaksil, Mohamed M
Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.
International Journal Of Molecular Sciences
Vaiman, Elena E EE; Shnayder, Natalia A NA; Zhuravlev, Nikita M NM; Petrova, Marina M MM; Asadullin, Azat R AR; Al-Zamil, Mustafa M; Garganeeva, Natalia P NP; Shipulin, German A GA; Cumming, Paul P; Nasyrova, Regina F RF
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).
Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022
Variant appearance in text: SCN5A: H558R; rs1805124
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Genes
Zaklyazminskaya, Elena E; Polyak, Margarita M; Shestak, Anna A; Sadekova, Mariam M; Komoliatova, Vera V; Kiseleva, Irina I; Makarov, Leonid L; Podolyak, Dmitriy D; Glukhov, Grigory G; Zhang, Han H; Abramochkin, Denis D; Sokolova, Olga S OS
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Biomedicines
Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Journal Of The American Heart Association
Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G
Publication Date: 2022-01-04
Variant appearance in text: SCN5A: 1673A>G; His558Arg
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: SCN5A: 1673A>G; His558Arg; rs1805124
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Publication Date: 2021-08
Variant appearance in text: SCN5A: 1673A>G; His558Arg
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Human Mutation
Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L
Publication Date: 2021-08
Variant appearance in text: SCN5A: 1673A>G; His558Arg
Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.
Open Heart
Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G
Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.
Channels (Austin, Tex.)
Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH
Publication Date: 2021-12
Variant appearance in text: SCN5A: H558R; rs1805124
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21
Variant appearance in text: SCN5A: 1673A>G; His558Arg; rs1805124
Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.
The Journal Of General Physiology
Nathan, Sara S; Gabelli, Sandra B SB; Yoder, Jesse B JB; Srinivasan, Lakshmi L; Aldrich, Richard W RW; Tomaselli, Gordon F GF; Ben-Johny, Manu M; Amzel, L Mario LM
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A