Nature Search

Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R Bezzina
Julien Barc
Richard Redon
Amendments and Corrections29 Oct 2013
Nature Genetics

Volume: 45, P: 1409
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

This study identifies an altered chromatin conformation associated to a cardiac disorder observed in 7 independent families. A deletion of 2 diverging CTCF binding sites on 4q25 induces TAD fusion and leads to PITX2 expression dysregulation.

Manon Baudic
Hiroshige Murata
Julien Barc
ResearchOpen Access20 Apr 2024
Nature Communications

Volume: 15, P: 1-15
Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders

Byambajav Tserenlkham
Koichiro Takayama
Seiko Ohno
Research05 Nov 2025
Journal of Human Genetics

P: 1-7
T_reg induction by a rationally selected mixture of Clostridia strains from the human microbiota

This study identifies 17 strains of human-derived Clostridia capable of inducing the accumulation and functional maturation of regulatory T cells; it is suggested that these strains may be useful candidates for the future development of oral bacterial therapeutics to treat human inflammatory disorders.

Koji Atarashi
Takeshi Tanoue
Kenya Honda
Research10 Jul 2013
Nature

Volume: 500, P: 232-236
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie Bezzina, Richard Redon and colleagues show that common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disorder with high risk of sudden cardiac death. The newly discovered loci have a large cumulative effect on disease risk and illustrate how common variants can have a strong impact on predisposition to rare diseases.

Connie R Bezzina
Julien Barc
Richard Redon
Research21 Jul 2013
Nature Genetics

Volume: 45, P: 1044-1049
Increased Ca_V1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

Junichi Ozawa
Seiko Ohno
Minoru Horie
ResearchOpen Access08 Nov 2022
Scientific Reports

Volume: 12, P: 1-10
A tryptophan residue in the caffeine-binding site of the ryanodine receptor regulates Ca²⁺ sensitivity

Takashi Murayama et al. report the molecular basis of calcium binding to ryanodine receptors, a process essential for muscle contraction. They find that a tryptophan residue in the caffeine binding site controls the structure of the calcium binding site, affecting calcium sensitivity.

Takashi Murayama
Haruo Ogawa
Takashi Sakurai
ResearchOpen Access23 Jul 2018
Communications Biology

Volume: 1, P: 1-12
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh
Najim Lahrouchi
Connie R. Bezzina
ResearchOpen Access07 Sept 2020
Genetics in Medicine

Volume: 23, P: 47-58
An NGS-based genotyping in LQTS; minor genes are no longer minor

Seiko Ohno
Junichi Ozawa
Minoru Horie
Research17 Jul 2020
Journal of Human Genetics

Volume: 65, P: 1083-1091
Prognostic factors for adult single cord blood transplantation among European and Japanese populations: the Eurocord/ALWP-EBMT and JSHCT/JDCHCT collaborative study

Junya Kanda
Hiromi Hayashi
Eliane Gluckman
Research14 Aug 2019
Leukemia

Volume: 34, P: 128-137
A hERG mutation E1039X produced a synergistic lesion on I_Ks together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

Jie Wu
Yuka Mizusawa
Minoru Horie
ResearchOpen Access15 Feb 2018
Scientific Reports

Volume: 8, P: 1-12

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Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders

T_reg induction by a rationally selected mixture of Clostridia strains from the human microbiota

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Increased Ca_V1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

A tryptophan residue in the caffeine-binding site of the ryanodine receptor regulates Ca²⁺ sensitivity

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

An NGS-based genotyping in LQTS; minor genes are no longer minor

Prognostic factors for adult single cord blood transplantation among European and Japanese populations: the Eurocord/ALWP-EBMT and JSHCT/JDCHCT collaborative study

A hERG mutation E1039X produced a synergistic lesion on I_Ks together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

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