Publications:

---

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 3208C>T

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

---

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.

Molecular Genetics & Genomic Medicine

Zhuang, Jianlong J; Luo, Qi Q; Xie, Meihua M; Chen, Yu'e Y; Jiang, Yuying Y; Zeng, Shuhong S; Wang, Yuanbai Y; Xie, Yingjun Y; Chen, Chunnuan C

Publication Date: 2022-12-11

Variant appearance in text: HERG: Q1070X

PubMed Link: 36504312

Variant Present in the following documents:

• MGG3-11-e2121.pdf

View BVdb publication page

---

hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.

The Journal Of Biological Chemistry

Ukachukwu, Chiamaka U CU; Jimenez-Vazquez, Eric N EN; Jain, Abhilasha A; Jones, David K DK

Publication Date: 2022-12-07

Variant appearance in text: HERG: Q1070X

PubMed Link: 36496073

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG.

Physiological Reports

Al Salmani, Majid K MK; Tavakoli, Rezvan R; Zaman, Wajid W; Al Harrasi, Ahmed A

Publication Date: 2022-07

Variant appearance in text: HERG: Q1070X

PubMed Link: 35854468

Variant Present in the following documents:

• PHY2-10-e15341.pdf

View BVdb publication page

---

Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family.

Heliyon

Dong, Jingyun J; Williams, Nori N; Cerrone, Marina M; Borck, Christopher C; Wang, Dawei D; Zhou, Bo B; Eng, Lucy S LS; Subbotina, Ekaterina E; Um, Sung Yon SY; Lin, Ying Y; Ruiter, Kevin K; Rojas, Lisa L; Coetzee, William A WA; Sampson, Barbara A BA; Tang, Yingying Y

Publication Date: 2018-12

Variant appearance in text: KCNH2: Gln1070Ter

PubMed Link: 30582040

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

A Potential Diagnostic Approach for Foetal Long-QT Syndrome, Developed and Validated in Children.

Pediatric Cardiology

Vink, Arja Suzanne AS; Kuipers, Irene M IM; De Bruin-Bon, Rianne H A C M RHACM; Wilde, Arthur A M AAM; Blom, Nico A NA; Clur, Sally-Ann B SB

Publication Date: 2018-10

Variant appearance in text: HERG: Q1070X

PubMed Link: 29789915

Variant Present in the following documents:

• 246_2018_Article_1911.pdf

View BVdb publication page

---

Genetic analysis of Iranian family with hereditary cardiac arrhythmias by next generation sequencing.

Advanced Biomedical Research

Asadi, Marzieh M; Foo, Roger R; Samienasab, Mohammad Reza MR; Salehi, Ahmad Reza AR; Kheirollahi, Majid M; Khanahmad, Hossein H; Salehi, Rasoul R

Publication Date: 2016

Variant appearance in text: HERG: Q1070X

PubMed Link: 27110552

Variant Present in the following documents:

• ABR-5-55.pdf

View BVdb publication page

---

Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: Q1070X

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gene

Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z

Publication Date: 2014-04-15

Variant appearance in text: LQT2: Q1070*

PubMed Link: 24530480

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.

Frontiers In Pediatrics

Bhuiyan, Zahurul A ZA; Al-Shahrani, Safar S; Al-Aama, Jumana J; Wilde, Arthur A M AA; Momenah, Tarek S TS

Publication Date: 2013-11-20

Variant appearance in text: KCNH2: 3208C>T

PubMed Link: 24400285

Variant Present in the following documents:

• Main text
• fped-01-00039.pdf

View BVdb publication page

---

hERG channel function: beyond long QT.

Acta Pharmacologica Sinica

Babcock, Joseph J JJ; Li, Min M

Publication Date: 2013-03

Variant appearance in text: HERG: Q1070X

PubMed Link: 23459091

Variant Present in the following documents:

• aps20136a.pdf

View BVdb publication page

---

Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.

Heart Rhythm

Zarraga, Ignatius Gerardo IG; Zhang, Li L; Stump, Matthew R MR; Gong, Qiuming Q; Vincent, G Michael GM; Zhou, Zhengfeng Z

Publication Date: 2011-08

Variant appearance in text: LQT2: Q1070X

PubMed Link: 21419236

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Hofman, N N; Jongbloed, R R; Postema, P G PG; Nannenberg, E E; Alders, M M; Wilde, A A M AA

Publication Date: 2011-01

Variant appearance in text: KCNH2: Gln1070X

PubMed Link: 21350584

Variant Present in the following documents:

• Main text
• 12471_2010_Article_46.pdf

View BVdb publication page

---

Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome.

Journal Of Molecular And Cellular Cardiology

Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z

Publication Date: 2011-01

Variant appearance in text: LQT2: Q1070X

PubMed Link: 21035456

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: LQT2: Q1070X

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.

Heart Rhythm

Bhuiyan, Zahurul A ZA; Momenah, Tarek S TS; Gong, Qiuming Q; Amin, Ahmad S AS; Ghamdi, Saleh Al SA; Carvalho, Julene S JS; Homfray, Tessa T; Mannens, Marcel M A M MM; Zhou, Zhengfeng Z; Wilde, Arthur A M AA

Publication Date: 2008-04

Variant appearance in text: HERG: 3208C>T

PubMed Link: 18362022

Variant Present in the following documents:

• Main text

View BVdb publication page

---