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Select item 116966191.

Analyzing exosomal miRNA profiles in tetralogy of fallot fetuses’ amniotic fluid

Hainan Yang, Yadan Li, Qiuyue Chen, Shangqing Li, Yiru Yang, Guorong Lyu

Sci Rep. 2025; 15: 96. Published online 2025 Jan 2. doi: 10.1038/s41598-024-83576-0

PMCID:: PMC11696619

Abstract Article PDF–6.0M

Select item 115940282.

Bioinformatic Multi-Strategy Profiling of Congenital Heart Defects for Molecular Mechanism Recognition

Fabyanne Guimarães de Oliveira, João Vitor Pacheco Foletto, Yasmin Chaves Scimczak Medeiros, Lavínia Schuler-Faccini, Thayne Woycinck Kowalski

Int J Mol Sci. 2024 Nov; 25(22): 12052. Published online 2024 Nov 9. doi: 10.3390/ijms252212052

PMCID:: PMC11594028

Abstract Article PDF–1.9M

Select item 115692183.

NOTCH1 mitochondria localization during heart development promotes mitochondrial metabolism and the endothelial-to-mesenchymal transition in mice

Jie Wang, Rui Zhao, Sha Xu, Xiang-Yu Zhou, Ke Cai, Yu-Ling Chen, Ze-Yu Zhou, Xin Sun, Yan Shi, Feng Wang, Yong-Hao Gui, Hui Tao, Jian-Yuan Zhao

Nat Commun. 2024; 15: 9945. Published online 2024 Nov 16. doi: 10.1038/s41467-024-54407-7

PMCID:: PMC11569218

Abstract Article PDF–3.3M

Select item 115574524.

Probable zoonotic pulmonary prosthetic valve infective endocarditis and acalculous cholecystitis caused by Streptococcus equi subspecies zooepidemicus

Matthew Eustace, Gabriela Strey, Timothy J Kidd, John F McNamara

BMJ Case Rep. 2024; 17(11): e262383. Published online 2024 Nov 4. doi: 10.1136/bcr-2024-262383

PMCID:: PMC11557452

Abstract Article PDF–452K

Select item 115508995.

Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease

Richa Tambi, Binte Zehra, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M. Kuebler, Wendy K. Chung, Alawi Alsheikh-Ali, Roberto M. Di Donato, Mohammed Uddin, Bakhrom K. Berdiev

Physiol Genomics. 2023 Dec 1; 55(12): 634–646. Published online 2023 Oct 9. doi: 10.1152/physiolgenomics.00070.2023

PMCID:: PMC11550899

Abstract Article

Select item 115264776.

Combined genetic-pharmacologic inactivation of tightly linked ADAMTS proteases in temporally specific windows uncovers distinct roles for versican proteolysis and glypican-6 in cardiac development

Timothy J. Mead, Sumit Bhutada, Simon J. Foulcer, Niccolò Peruzzi, Courtney M. Nelson, Deborah E. Seifert, Jonathan Larkin, Karin Tran-Lundmark, Jorge Filmus, Suneel S. Apte

Matrix Biol. Author manuscript; available in PMC 2024 Oct 31.

Published in final edited form as: Matrix Biol. 2024 Aug; 131: 1–16. Published online 2024 May 13. doi: 10.1016/j.matbio.2024.05.003

PMCID:: PMC11526477

Abstract Article PDF–5.2M

Select item 115259957.

Novel association of LBX1 mutation with tetralogy of Fallot and hypertrophic cardiomyopathy: implications for cardiac development

Peiwen Cheng, Guozhen Wang, Yingzi Song, Yong An

Sci Rep. 2024; 14: 26179. Published online 2024 Oct 30. doi: 10.1038/s41598-024-77187-y

PMCID:: PMC11525995

Abstract Article PDF–1.6M

Select item 115210718.

Global research landscape on the genetics of congenital heart disease: A bibliometric and visualized analysis via VOSviewer and CiteSpace

Fan Zhang, Lei Qi, Mingxue Zhao, Shuming Han, Haoran Zhang, Guangxin Wang

Medicine (Baltimore) 2024 Oct 25; 103(43): e40261. Published online 2024 Oct 25. doi: 10.1097/MD.0000000000040261

PMCID:: PMC11521071

Abstract Article PDF–1.5M

Select item 114296179.

Missense mutations in the CITED2 gene may contribute to congenital heart disease

Hira Yaqoob, Hussain Ahmad, Syed Irtiza Ali, Najma Patel, Afsheen Arif

BMC Cardiovasc Disord. 2024; 24: 516. Published online 2024 Sep 27. doi: 10.1186/s12872-024-04035-2

PMCID:: PMC11429617

Abstract Article PDF–1.6M

Select item 1136812510.

FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms

Richard M Monaghan, Richard W Naylor, Daisy Flatman, Paul R Kasher, Simon G Williams, Bernard D Keavney

Cardiovasc Res. 2024 Jul; 120(10): 1164–1176. Published online 2024 May 7. doi: 10.1093/cvr/cvae104

PMCID:: PMC11368125

Abstract Article PDF–9.1M

Select item 1121998311.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David Chitayat, Rebekah K. Jobling

Eur J Hum Genet. 2024 Jul; 32(7): 795–803. Published online 2024 May 22. doi: 10.1038/s41431-024-01629-4

PMCID:: PMC11219983

Abstract Article PDF–3.5M

Select item 1104045312.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease

Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L. Vora, Kelly L. Gilmore, Jessica L. Giordano, Ronald J. Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C. Jelin, Ali G. Gharavi, Thomas Hays

Prenat Diagn. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Prenat Diagn. 2024 Mar; 44(3): 343–351. Published online 2024 Jan 29. doi: 10.1002/pd.6527

PMCID:: PMC11040453

Abstract Article PDF–748K

Select item 1086392713.

Association of genetic and sulcal traits with executive function in congenital heart disease

Lara Maleyeff, Jane W. Newburger, David Wypij, Nina H. Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K. Chung, John Cleveland, Sean Cunningham, Bruce D. Gelb, Elizabeth Goldmuntz, Donald J Hagler, Jr, Hao Huang, Eileen King, Patrick McQuillen, Thomas A. Miller, Ami Norris‐Brilliant, George A. Porter, Jr, Amy E. Roberts, P. Ellen Grant, Kiho Im, Sarah U. Morton

Ann Clin Transl Neurol. 2024 Feb; 11(2): 278–290. Published online 2023 Nov 27. doi: 10.1002/acn3.51950

PMCID:: PMC10863927

Abstract Article PDF–1.1M

Select item 1073359614.

The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis

Misaki Kanezawa, Hiroto Shimokawahara, Masahiro Tsuji, Kazuki Suruga, Ayane Miyagi, Minako Marunaka, Takashi Mukai, Takahisa Kawaguchi, Ta-Yu Yang, Izumi Yamaguchi, Masao Nagasaki, Fumihiko Matsuda, Hiromi Matsubara

Eur Respir J. 2023 Dec; 62(6): 2301511. Published online 2023 Dec 21. doi: 10.1183/13993003.01511-2023

PMCID:: PMC10733596

Abstract Article PDF–620K

Select item 1066064315.

ROR2 deficit may induce the tetralogy of Fallot via down‐regulating of β‐catenin/SOX3/HSPA6 in vitro and in vivo

Rui Guo, Yiran Zhou Guo, Qing Zhou, Guoju Li, Zhanghui Du, Yefei Shi, Quansheng Xing

J Cell Mol Med. 2023 Nov; 27(22): 3539–3552. Published online 2023 Sep 25. doi: 10.1111/jcmm.17969

PMCID:: PMC10660643

Abstract Article PDF–11M

Select item 1054218516.

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients

Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

Int J Med Sci. 2023; 20(11): 1377–1385. Published online 2023 Sep 4. doi: 10.7150/ijms.86773

PMCID:: PMC10542185

Abstract Article PDF–975K

Select item 1051693617.

Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome

Chun-Ho Chan, Yin-Yu Lam, Nicodemus Wong, Lin Geng, Jilin Zhang, Virpi Ahola, Aman Zare, Ronald Adolphus Li, Fredrik Lanner, Wendy Keung, Yiu-Fai Cheung

Commun Biol. 2023; 6: 969. Published online 2023 Sep 22. doi: 10.1038/s42003-023-05344-6

PMCID:: PMC10516936

Abstract Article PDF–3.8M

Select item 1044855918.

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Yasemin Denkboy Öngen, Şebnem Özemri Sağ, Şehime Gülsün Temel, Erdal Eren

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 285–292. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2023.2022-11-3

PMCID:: PMC10448559

Abstract Article PDF–474K

Select item 1040577919.

Integrated multi-omic characterization of congenital heart disease

Matthew C. Hill, Zachary A. Kadow, Hali Long, Yuka Morikawa, Thomas J. Martin, Emma J. Birks, Kenneth S. Campbell, Jeanne Nerbonne, Kory Lavine, Lalita Wadhwa, Jun Wang, Diwakar Turaga, Iki Adachi, James F. Martin

Nature. Author manuscript; available in PMC 2023 Aug 7.

Published in final edited form as: Nature. 2022 Aug; 608(7921): 181–191. Published online 2022 Jun 22. doi: 10.1038/s41586-022-04989-3

PMCID:: PMC10405779

Abstract Article PDF–8.8M

Select item 1035853820.

Identification of ferroptosis-associated genes exhibiting altered expression in response to cardiopulmonary bypass during corrective surgery for pediatric tetralogy of fallot

Hongtao Liu, Bingyong Zhang, Shaofeng Chen, Yun Zhang, Xin Ye, Yi Wei, Guihong Zhong, Liangqing Zhang

Sci Prog. 2021 Oct-Dec; 104(4): 00368504211050275. Published online 2021 Oct 12. doi: 10.1177/00368504211050275

PMCID:: PMC10358538

Abstract Article PDF–2.9M

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