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Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes Bhuiyan, Z.A.

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Citation for published version (APA): Bhuiyan, Z. A. (2009). Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes

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Download date: 15 jan. 2017

List of publications Books: Congenital Heart Disease: Molecular Diagnostics Chapter: Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Authors: A. V. Postma, Z. A. Bhuiyan, H. Bikker Publisher: Humana Press, New Jersey, USA. ISBN: 978-1-58829-375-6 Heart Diseases in Men Chapter: Familial Arrhythmias: Genes, Mechanisms and Treatment: Present Perspective Authors: Z. A. Bhuiyan, A. A. M. Wilde Publisher: Nova Science Publisher, New York, USA. ISBN: 978-1-60692-297-2 Heart Diseases in Children Chapter: Congenital Primary Arrhythmias in Children Authors: Z. A. Bhuiyan, T. S. Momenah, A. A. M. Wilde Publisher: Nova Science Publisher, New York, USA. ISBN: 978-1-60741-504-6

Scientific Publications: Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AA. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009;6:341-8. Bhuiyan ZA, Al-Shahrani S, Al-Khadra AS, Al-Ghamdi S, Al-Khalaf K, Mannens MM, Wilde AA, Momenah TS. Clinical and Genetic Analysis of Long QT Syndrome in Children from Six Families in Saudi Arabia: Are They Different? Pediatr Cardiol. 2009 Jan 30. [Epub ahead of print]

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Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AAM, Mannens MMAM. An Intronic Mutation leading to Incomplete Skipping of Exon-2 in KCNQ1 Rescues Hearing in Jervell and Lange-Nielsen Syndrome Prog Biophys Mol Biol. 2008;98:319-27. 319

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Clinical and Genetic Spectrum of Hereditary Cardiac Arrhythmia Syndromes

Wilde AA, Bhuiyan ZA, Crotti L, Facchini M, De Ferrari GM, Paul T, Ferrandi C, Koolbergen DR, Odero A, Schwartz PJ. Left Cardiac Sympathetic Denervation in Catecholaminergic Polymorphic Ventricular Tachycardia. N Engl J Med. 2008;358:2024-9. Bhuiyan ZA, Momenah TS, Gong Q, Amin AS, Ghamdi SA, Carvalho JS, Homfray T, Mannens MM, Zhou Z, Wilde AA. Recurrent Intrauterine Fetal Loss due to Near Absence of HERG: Clinical and Functional Characterization of a Homozygous Non-sense HERG mutation. Heart Rhythm. 2008;5:553-61. Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA. The Expanding Spectrum of Human RyR2-related Disease: New Electrocardiographic, Structural and Genetic features. Circulation. 2007;116:1569-76. Bhuiyan ZA, Hamdan MA, Shamsi ET, Postma AV, Mannens MM, Wilde AA, Al-Gazali L. A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22. J Cardiovasc Electrophysiol. 2007;18:1060-6. Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LH, Pastink A, Darroudi F. Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: Evidence for impaired recombinational repair. Hum Mol Genet. 2007;16:1478-87.

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Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AAM, Veldkamp MW. Characterization of a novel SCN5A gene mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation Cardiovascular Research. 2007; 76: 418-429. Timár KK, Junnikkala S, Dallos A, Bhuiyan ZA, Meri S, Bos JD, Asghar SS. Human keratinocytes produce the complement inhibitor factor I: synthesis is regulated by 320

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interferon-γ Mol Immunol. 2007;44: 2943-9. Otterspoor LC, Reichert CL, Cramer MJ, Bhuiyan ZA, Wilde AA, Hauer RN. Arrhythmogenic Right Ventricular Cardiomyopathy: Asymptomatic to Life Threatening as illustrated by the Cases of Two Sisters. Neth Heart J. 2007;15: 348-53. Bhuiyan ZA, Stewart H, Redeker EJ, Mannens MMAM, Hennekam RCM. Large Genomic Rearrangements in NIPBL are Infrequent in Cornelia de Lange Syndrome Eur J Hum Genet. 2007;15:505-8. Kannankeril PJ,* Bhuiyan ZA,* Darbar D, Mannens MM, Wilde AA, Roden DM. *shared first author Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm. 2006;3:939-44. Van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. Plakophilin-2 Mutations are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Circulation. 2006;113:1650-8. Postma AV, Bhuiyan ZA, Bikker H. Molecular diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia using Denaturing High-performance Liquid Chromatography and Sequencing. Methods Mol Med. 2006;126:171-83. Coronel R, Koomann TT, Wilms-Schopman W, Verkerk AO, Casini S, Groot JR, Bhuiyan ZA, Bezzina CR, Veldkamp MW, Linnenbank AC, van der Wall A, Tan HL, Brugada P, Wilde AAM, Bakker JMT. Letter regarding article by Coronel et al, “right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study”. Circulation. 2006;113:e726-7. 321

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Clinical and Genetic Spectrum of Hereditary Cardiac Arrhythmia Syndromes

Iqbal AM, Al-Omar HM, Owaidah T, Al-Humaidan H, Bhuiyan ZA, Sahovic E. del(6)(p23) in two cases of de novo AML--a new recurrent primary chromosome abnormality. Eur J Haematol. 2006;77:245-50. Bhuiyan ZA, Klein M, Hammond P, van Haeringen A, Mannens MMAM, Van BerckelaerOnnes I, Hennekam RCM Genotype-Phenotype Correlations of 39 Patients with Cornelia de Lange Syndrome: The Dutch Experience. J Med Genet. 2006;43:568-75. Bhuiyan ZA, Zilfalil BA, Hennekam RC. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings. Singapore Med J. 2006 ;47:724-7. Berecki G, Zegers JG, Bhuiyan ZA, Wilders R, van Ginneken AC. Long-QT syndrome related sodium channel mutations probed by dynamic action potential clamp technique channel (dys)function revealed by dynamic action potential clamp technique. J Physiol. 2006 ;570:237-50. Berecki G, Zegers JG, Verkerk AO, Bhuiyan ZA, de Jonge B, Veldkamp MW, Wilders R, van Ginneken AC. HERG channel (dys)function revealed by dynamic action potential clamp technique. Biophys J. 2005;88:566-78.

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Coronel R, Koomann TT, Wilms-Schopman W, Verkerk AO, Casini S, Groot JR, Bhuiyan ZA, Bezzina CR, Veldkamp MW, Linnenbank AC, van der Wall A, Tan HL, Brugada P, Wilde AAM, Bakker JMT. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation. 2005;112:2769-77. Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MMAM, Balser JR, Tan HL, Bezzina CR, Wilde AAM A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syn322

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drome, conduction disease and Brugada syndrome in two families J Mol Cell Cardiol. 2005;38:969-81 Smits JPP, Veldkamp MW, Bezzina CR, Bhuiyan ZA, Wedekind H, Schulze-Bahr E, Wilde AAM Substitution of a conserved alanine in the domain IIIS4–S5 linker of the cardiac sodium channel causes long QT syndrome Cardiovasc Res. 2005;67:459-66. Verkerk AO, Schulze-Bahr E, Wilders R, Beekman L, Bhuiyan ZA, Bertrand J, Eckardt L, Lin D, Borggrefe M, Breihardt G, Mannens MMAM, Tan HL, Wilde AAM, Bezzina CR. Role of sequence variations in the human Ether-a-Go-Go-Related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc Res. 2005;68:441-53. Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. Acta Physiol Scand. 2005;185:291-301. Postma AV, Bhuiyan ZA, Shkolnikova M, Denjoy I, Mannens MMAM, Wilde AAM, Guicheney P, Bezzina CR. Involvement of the Kir2 gene family in Catecholaminergic polymorphic ventricular tachycardia; analysis for mutations and identification of numerous pseudogenes. European Society of Cardiology Congress 2004, Münich, Allemagne, 28 Août-1 Septembre., 2004, P. European Heart Journal. 2004, 25: 66-66 Bezzina CR, Verkerk AO, Busjahn A, Jeron A, Erdmann J, Hense H-W, Koopmann TT, Bhuiyan ZA, Wilders R, Mannens MMAM., Tan HL, Luft FC, Schunkert H, Wilde AA A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

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Cardiovasc Res. 2003;59:27-36. McElgunn CJ, Bhuiyan ZA, Sugiyama M. Integration analysis of pSK41 in the chromosome of a methicillin-resistant Staphylococcus aureus K-1. J Basic Microbiol. 2002;42:190-200. 323

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Clinical and Genetic Spectrum of Hereditary Cardiac Arrhythmia Syndromes

Wedekind H, Smits JP, Schulze-Bahr E, Arnold R, Veldkamp MW, Bajanowski T, Borggrefe M, Brinkmann B, Warnecke I, Funke H, Bhuiyan ZA, Wilde AA, Breithardt G, Haverkamp W. De novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation. 2001;104:1158-1164 Bhuiyan ZA, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, Hatada I, Morisaki H, Morisaki T, Mukai T. Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. Hum Genet. 1999;104:205-10. Sugiyama M, Yuasa K, Bhuiyan ZA , Iwai Y, Masumi N, Ueda K. IS431mec-mediated integration of a bleomycin-resistance gene into the chromosome of a methicillin-resistant Staphylococcus aureus strain isolated in Japan. Appl Microbiol Biotechnol. 1996;46:61-6. Peng Q, Zeng M, Bhuiyan ZA, Ubukata E, Tanaka A, Nonoyama M, Shirazi Y. Isolation and characterization of Marek’s disease virus (MDV) cDNAs mapping to the BamHI-I2, BamHI-Q2, and BamHI-L fragments of the MDV genome from lymphoblastoid cells transformed and persistently infected with MDV. Virology. 1995 Nov 10;213:590-9. Bhuiyan ZA, Ueda K, Inoue Y, Sugiyama M. Molecular cloning and expression in Escherichia coli of bleomycin-resistance gene from a methicillin-resistant Staphylococcus aureus and its association with IS431 mec. Appl Microbiol Biotechnol. 1995 ;43:65-9.

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Sugiyama M, Kumagai T, Matsuo H, Bhuiyan ZA, Ueda K, Mochizuki H, Nakamura N, Davies JE. Overproduction of the bleomycin-binding proteins from bleomycin-producing Streptomyces verticillus and a methicillin-resistant Staphylococcus aureus in Escherichia coli and their immunological characterisation. FEBS Lett. 1995;362:80-4. Wulffaert J, Van Berckelaer-Onnes IA, Kroonenberg PM, Bhuiyan ZA, Hennekam RCM. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. 324

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Journal of Intellectual Disability Research, provisionally accepted Bhuiyan ZA, Jongbloed JDH, van der Smagt J, Lombardi PM, Wiesfeld ACP, Nelen M, Schouten M, Jongbloed R, Cox MGPJ, van Wolferen M,Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJH, van den Berg MP, Mannens MMAM, Hauer RNW, Wilde AAM, van Tintelen JP. Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy patients: results from a multicenter study Circulation. Cardiovascular Genetics; provisionally accepted

Medeiros-Domingo A*, Bhuiyan ZA*, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MMAM, Wilde AAM, Ackerman MJ. *shared first author Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, ExerciseInduced Long QT Syndrome J Am Coll Cardiol. revised version submitted Bhuiyan ZA, Din Nazzlin D, Bin Alwi Z, Wong AR. Clinical and Genetic Analysis of Long QT Syndrome in two Neonates from Malaysia submitted

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