Literature DB >> 30919686

Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.

Alvaro Roldán-Sevilla1, Julian Palomino-Doza1,2,3, Javier de Juan4,2, Violeta Sánchez5,2,3, Cristina Domínguez-González6,2, Rafael Salguero-Bodes1,2, Fernando Arribas-Ynsaurriaga1,2,3.   

Abstract

Entities:  

Keywords:  cardiomyopathies; diagnostics; genetics; mutation

Mesh：

Substances：

Year:  2019        PMID： 30919686     DOI： 10.1161/CIRCGEN.118.002388

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  7 in total

1.  Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.

Authors:  Min Zheng; Hong Huang; Xu Zhu; Harvey Ho; Liling Li; Xiaojuan Ji
Journal:  BMC Cardiovasc Disord       Date:  2022-05-25       Impact factor: 2.174

Review 2.  Genetic Insights into Primary Restrictive Cardiomyopathy.

Authors:  Andreas Brodehl; Brenda Gerull
Journal:  J Clin Med       Date:  2022-04-08       Impact factor: 4.964

Review 3.  Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Authors:  Andreas Brodehl; Hans Ebbinghaus; Marcus-André Deutsch; Jan Gummert; Anna Gärtner; Sandra Ratnavadivel; Hendrik Milting
Journal:  Int J Mol Sci       Date:  2019-09-06       Impact factor: 5.923

4.  The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Authors:  Miriam S Reuter; Rajiv R Chaturvedi; Eriskay Liston; Roozbeh Manshaei; Ritu B Aul; Sarah Bowdin; Iris Cohn; Meredith Curtis; Priya Dhir; Robin Z Hayeems; S Mohsen Hosseini; Reem Khan; Linh G Ly; Christian R Marshall; Luc Mertens; John B A Okello; Sergio L Pereira; Akshaya Raajkumar; Mike Seed; Bhooma Thiruvahindrapuram; Stephen W Scherer; Raymond H Kim; Rebekah K Jobling
Journal:  Genet Med       Date:  2020-02-10       Impact factor: 8.822

5.  Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.

Authors:  A Muravyev; T Vershinina; P Tesner; G Sjoberg; Yu Fomicheva; N Novák Čajbiková; A Kozyreva; S Zhuk; E Mamaeva; S Tarnovskaya; J Jornholt; P Sokolnikova; T Pervunina; E Vasichkina; T Sejersen; A Kostareva
Journal:  Orphanet J Rare Dis       Date:  2022-09-14       Impact factor: 4.303

6.  A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Authors:  Job A J Verdonschot; Els K Vanhoutte; Godelieve R F Claes; Apollonia T J M Helderman-van den Enden; Janneke G J Hoeijmakers; Debby M E I Hellebrekers; Amber de Haan; Imke Christiaans; Ronald H Lekanne Deprez; Hanne M Boen; Emeline M van Craenenbroeck; Bart L Loeys; Yvonne M Hoedemaekers; Carlo Marcelis; Marlies Kempers; Esther Brusse; Jaap I van Waning; Annette F Baas; Dennis Dooijes; Folkert W Asselbergs; Daniela Q C M Barge-Schaapveld; Pieter Koopman; Arthur van den Wijngaard; Stephane R B Heymans; Ingrid P C Krapels; Han G Brunner
Journal:  Hum Mutat       Date:  2020-03-20       Impact factor: 4.878

Review 7.  Structure and Function of Filamin C in the Muscle Z-Disc.

Authors:  Zhenfeng Mao; Fumihiko Nakamura
Journal:  Int J Mol Sci       Date:  2020-04-13       Impact factor: 5.923
  7 in total

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