Publications:

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A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Archives Of Endocrinology And Metabolism

Franceschi, Roberto R; Maines, Evelina E; Bellizzi, Maria M; Rivieri, Francesca F; Bacca, Andrea A; Filippi, Alessandra A; Valente, Enza Maria EM; Plumari, Massimo M; Soffiati, Massimo M; Vincenzi, Monica M; Teofoli, Francesca F; Camilot, Marta M

Publication Date: 2022-12-01

Variant appearance in text: NKX2-5: 73C>T; rs28936670

PubMed Link: 36468928

Variant Present in the following documents:

• Main text
• 2359-4292-aem-67-01-0143.pdf

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Genetic insights into non-syndromic Tetralogy of Fallot.

Frontiers In Physiology

Althali, Nouf J NJ; Hentges, Kathryn E KE

Publication Date: 2022

Variant appearance in text: NKX2.5: 73C>T

PubMed Link: 36277185

Variant Present in the following documents:

• Main text
• fphys-13-1012665.pdf

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: NKX2-5: 73C>T; R25C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.

International Journal Of Environmental Research And Public Health

Nazeer, Nadeem Ul NU; Bhat, Mohammad Akbar MA; Rah, Bilal B; Bhat, Gh Rasool GR; Wani, Shadil Ibrahim SI; Yousuf, Adfar A; Dar, Abdul Majeed AM; Afroze, Dil D

Publication Date: 2022-08-11

Variant appearance in text: NKX2.5: R25C

PubMed Link: 36011517

Variant Present in the following documents:

• ijerph-19-09884.pdf

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Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.

Medicine

Han, Bing B; Wang, Yongxiang Y; Zhao, Jing J; Lan, Qingsu Q; Zhang, Jin J; Meng, Xiaoxue X; Jin, Jianjian J; Bai, Ming M; Zhang, Zheng Z

Publication Date: 2022-08-12

Variant appearance in text: NKX2-5: 73C>T; R25C

PubMed Link: 35960099

Variant Present in the following documents:

• Main text
• medi-101-e30046.pdf

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NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

International Journal Of Molecular Sciences

Szczepanek-Parulska, Ewelina E; Budny, Bartłomiej B; Borowczyk, Martyna M; Zhukov, Igor I; Szutkowski, Kosma K; Zawadzka, Katarzyna K; Tahir, Raiha R; Minczykowski, Andrzej A; Niedziela, Marek M; Ruchała, Marek M

Publication Date: 2022-03-21

Variant appearance in text: NKX2-5: 73C>T; R25C

PubMed Link: 35328834

Variant Present in the following documents:

• Main text
• ijms-23-03414.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: NKX2-5: R25C; rs28936670

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.

Genes

Paolucci, Matteo M; Vincenzi, Chiara C; Romoli, Michele M; Amico, Giulia G; Ceccherini, Isabella I; Lattanzi, Simona S; Bersano, Anna A; Longoni, Marco M; Sacco, Simona S; Vernieri, Fabrizio F; Pascarella, Rosario R; Valzania, Franco F; Zedde, Marialuisa M

Publication Date: 2021-12-06

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 34946902

Variant Present in the following documents:

• Main text
• genes-12-01953.pdf

View BVdb publication page

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The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.

Genes

Paolucci, Matteo M; Vincenzi, Chiara C; Romoli, Michele M; Amico, Giulia G; Ceccherini, Isabella I; Lattanzi, Simona S; Bersano, Anna A; Longoni, Marco M; Sacco, Simona S; Vernieri, Fabrizio F; Pascarella, Rosario R; Valzania, Franco F; Zedde, Marialuisa M

Publication Date: 2021-12-06

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 34946902

Variant Present in the following documents:

• Main text
• genes-12-01953.pdf

View BVdb publication page

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Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.

Children (Basel, Switzerland)

Alcántara-Ortigoza, Miguel Angel MA; Sánchez-Verdiguel, Iraís I; Fernández-Hernández, Liliana L; Enríquez-Flores, Sergio S; González-Núñez, Aidy A; Hernández-Martínez, Nancy Leticia NL; Sánchez, Carmen C; González-Del Angel, Ariadna A

Publication Date: 2021-05-30

Variant appearance in text: NKX2-5: Arg25Cys; rs28936670

PubMed Link: 34070861

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Journal Of The American Heart Association

Parker, Lauren E LE; Landstrom, Andrew P AP

Publication Date: 2021-01-19

Variant appearance in text: NKX2.5: R25C

PubMed Link: 33432820

Variant Present in the following documents:

• Main text
• JAH3-10-e019006.pdf

View BVdb publication page

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A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Journal Of Cardiovascular And Thoracic Research

Kalayinia, Samira S; Ghasemi, Serwa S; Mahdieh, Nejat N

Publication Date: 2019

Variant appearance in text: NKX2.5: 73C>T

PubMed Link: 31824610

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: NKX2-5: R25C; rs28936670

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.

Molecular Genetics & Genomic Medicine

Behiry, Eman G EG; Al-Azzouny, Mahmoud A MA; Sabry, Dina D; Behairy, Ola G OG; Salem, Nessrine E NE

Publication Date: 2019-05

Variant appearance in text: NKX2-5: 73C>T; R25C; rs28936670

PubMed Link: 30834692

Variant Present in the following documents:

• Main text
• MGG3-7-e612.pdf

View BVdb publication page

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Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation.

Oncotarget

Mattapally, Saidulu S; Singh, Mrityunjay M; Murthy, Kona Samba KS; Asthana, Shailendra S; Banerjee, Sanjay K SK

Publication Date: 2018-03-02

Variant appearance in text: NKX2.5: R25C

PubMed Link: 29568389

Variant Present in the following documents:

• Main text
• oncotarget-09-13713.pdf

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs28936670

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NKX2-5: 73C>T; Arg25Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Kheirollahi, Majid M; Khosravi, Fereshteh F; Ashouri, Saeideh S; Ahmadi, Alireza A

Publication Date: 2016

Variant appearance in text: NKX2.5: R25C

PubMed Link: 27904570

Variant Present in the following documents:

• JRMS-21-24.pdf

View BVdb publication page

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NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

Anatolian Journal Of Cardiology

El Bouchikhi, Ihssane I; Bouguenouch, Laila L; Zohra Moufid, Fatima F; Houssaini, Mohammed Iraqui MI; Belhassan, Khadija K; Samri, Imane I; Joutei, Ayoub Tahri AT; Ouldim, Karim K; Atmani, Samir S

Publication Date: 2017-03

Variant appearance in text: NKX2-5: 73C>T; rs28936670

PubMed Link: 27752029

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics

Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN

Publication Date: 2016-10-06

Variant appearance in text: rs28936670

PubMed Link: 27716216

Variant Present in the following documents:

• 12920_2016_223_MOESM1_ESM.pdf

View BVdb publication page

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A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

Plos One

Abdul Samad, Firoz F; Suliman, Bandar A BA; Basha, Syed Hussain SH; Manivasagam, Thamilarasan T; Essa, Musthafa Mohamed MM

Publication Date: 2016

Variant appearance in text: NKX2-5: R25C; rs28936670

PubMed Link: 27152669

Variant Present in the following documents:

• Main text
• pone.0153999.pdf

View BVdb publication page

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Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Genes

Chung, Ill-Min IM; Rajakumar, Govindasamy G

Publication Date: 2016-01-23

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 26805889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.

Congenital Heart Disease

Ellesøe, Sabrina Gade SG; Johansen, Morten Munk MM; Bjerre, Jesper Vandborg JV; Hjortdal, Vibeke Elisabeth VE; Brunak, Søren S; Larsen, Lars Allan LA

Publication Date: 2016-05

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 26679770

Variant Present in the following documents:

• Main text
• CHD-11-283.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NKX2-5: R25C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Scientific Reports

Abou Hassan, Ossama K OK; Fahed, Akl C AC; Batrawi, Manal M; Arabi, Mariam M; Refaat, Marwan M MM; DePalma, Steven R SR; Seidman, J G JG; Seidman, Christine E CE; Bitar, Fadi F FF; Nemer, Georges M GM

Publication Date: 2015-03-06

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 25742962

Variant Present in the following documents:

• Main text
• srep08848.pdf

View BVdb publication page

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Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.

Endocrinology

Opitz, Robert R; Hitz, Marc-Philip MP; Vandernoot, Isabelle I; Trubiroha, Achim A; Abu-Khudir, Rasha R; Samuels, Mark M; Désilets, Valérie V; Costagliola, Sabine S; Andelfinger, Gregor G; Deladoëy, Johnny J

Publication Date: 2015-01

Variant appearance in text: NKX2.5: 73C>T; rs28936670

PubMed Link: 25353184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: NKX2-5: R25C; rs28936670

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf

View BVdb publication page

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Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.

Plos One

Reamon-Buettner, Stella Marie SM; Sattlegger, Evelyn E; Ciribilli, Yari Y; Inga, Alberto A; Wessel, Armin A; Borlak, Jürgen J

Publication Date: 2013

Variant appearance in text: NKX2-5: 73C>T; R25C

PubMed Link: 24376681

Variant Present in the following documents:

• Main text
• pone.0083295.pdf

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: NKX2-5: Arg25Cys; rs28936670

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic abnormalities in FOXP1 are associated with congenital heart defects.

Human Mutation

Chang, Sheng-Wei SW; Mislankar, Mona M; Misra, Chaitali C; Huang, Nianyuan N; Dajusta, Daniel G DG; Harrison, Steven M SM; McBride, Kim L KL; Baker, Linda A LA; Garg, Vidu V

Publication Date: 2013-09

Variant appearance in text: NKX2.5: R25C

PubMed Link: 23766104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

Circulation. Cardiovascular Genetics

Costa, Mauro W MW; Guo, Guanglan G; Wolstein, Orit O; Vale, Molly M; Castro, Maria L ML; Wang, Libin L; Otway, Robyn R; Riek, Peter P; Cochrane, Natalie N; Furtado, Milena M; Semsarian, Christopher C; Weintraub, Robert G RG; Yeoh, Thomas T; Hayward, Christopher C; Keogh, Anne A; Macdonald, Peter P; Feneley, Michael M; Graham, Robert M RM; Seidman, Jonathan G JG; Seidman, Christine E CE; Rosenthal, Nadia N; Fatkin, Diane D; Harvey, Richard P RP

Publication Date: 2013-06

Variant appearance in text: NKX2-5: R25C; rs28936670

PubMed Link: 23661673

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

Plos One

van Engelen, Klaartje K; Mommersteeg, Mathilda T M MT; Baars, Marieke J H MJ; Lam, Jan J; Ilgun, Aho A; van Trotsenburg, A S Paul AS; Smets, Anne M J B AM; Christoffels, Vincent M VM; Mulder, Barbara J M BJ; Postma, Alex V AV

Publication Date: 2012

Variant appearance in text: NKX2-5: R25C

PubMed Link: 23285148

Variant Present in the following documents:

• Main text
• pone.0052685.pdf

View BVdb publication page

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Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

Plos One

Abdul-Sater, Zahi Z; Yehya, Amin A; Beresian, Jean J; Salem, Elie E; Kamar, Amina A; Baydoun, Serine S; Shibbani, Kamel K; Soubra, Ayman A; Bitar, Fadi F; Nemer, Georges G

Publication Date: 2012

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 23226213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.

Genetics And Molecular Biology

Porto, Marianna P R MP; Vergani, Naja N; Carvalho, Antonio Carlos C AC; Cernach, Mirlene C S P MC; Brunoni, Decio D; Perez, Ana Beatriz A AB

Publication Date: 2010-04

Variant appearance in text: NKX2.5: 73C>T

PubMed Link: 21637475

Variant Present in the following documents:

• Main text
• gmb-33-2-232.pdf

View BVdb publication page

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Molecular genetics of congenital atrial septal defects.

Clinical Research In Cardiology : Official Journal Of The German Cardiac Society

Posch, Maximilian G MG; Perrot, Andreas A; Berger, Felix F; Ozcelik, Cemil C

Publication Date: 2010-03

Variant appearance in text: NKX2.5: R25C

PubMed Link: 20012542

Variant Present in the following documents:

• Main text
• 392_2009_Article_95.pdf

View BVdb publication page

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Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

The American Journal Of Pathology

Reamon-Buettner, Stella Marie SM; Hecker, Hartmut H; Spanel-Borowski, Katharina K; Craatz, Steffen S; Kuenzel, Eberhard E; Borlak, Juergen J

Publication Date: 2004-06

Variant appearance in text: NKX2-5: Arg25Cys

PubMed Link: 15161646

Variant Present in the following documents:

• Main text

View BVdb publication page

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