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Items: 1 to 20 of 500

1.
Hypoplastic Left Heart Syndrome: Signaling & Molecular Perspectives, and the Road Ahead
Sayantap Datta, Wangjia Cao, Mikayla Skillman, Mingfu Wu
Int J Mol Sci. 2023 Oct; 24(20): 15249. Published online 2023 Oct 17. doi: 10.3390/ijms242015249
PMCID:
PMC10607600
ArticlePubReaderPDF–2.1MCite
2.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
Joseph S Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H Irons, Samuel B Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P Norris, Yair Anikster, Heymut Omran, Daniel T Grimes, Andrew H Crosby, Emma L Baple
Genet Med. Author manuscript; available in PMC 2023 Oct 18.
Published in final edited form as: Genet Med. 2022 Nov; 24(11): 2249–2261. Published online 2022 Sep 8. doi: 10.1016/j.gim.2022.07.019
PMCID:
PMC10584193
ArticlePubReaderPDF–1.3MCite
3.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
Benjamin J. Landis, Lindsey R. Helvaty, Gabrielle C. Geddes, Jiuann‐Huey Ivy Lin, Svetlana A. Yatsenko, Cecilia W. Lo, William L. Border, Stephanie Burns Wechsler, Chaya N. Murali, Mahshid S. Azamian, Seema R. Lalani, Robert B. Hinton, Vidu Garg, Kim L. McBride, Jennelle C. Hodge, Stephanie M. Ware
J Am Heart Assoc. 2023 Sep 19; 12(18): e029340. Published online 2023 Sep 8. doi: 10.1161/JAHA.123.029340
PMCID:
PMC10547279
ArticlePubReaderPDF–2.6MCite
4.
Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report
Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi
J Med Case Rep. 2023; 17: 411. Published online 2023 Sep 29. doi: 10.1186/s13256-023-04149-9
PMCID:
PMC10540367
ArticlePubReaderPDF–1.1MCite
5.
Evolving spectrum of arrhythmogenic cardiomyopathy: Implications for Sports Cardiology
Francesca Graziano, Alberto Cipriani, Dorottya Balla, Sergei Bondarev, Martina Perazzolo Marra, Barbara Bauce, Hajnalka Vágó, Domenico Corrado, Alessandro Zorzi
Clin Cardiol. 2023 Sep; 46(9): 1072–1081. Published online 2023 Jun 25. doi: 10.1002/clc.24069
PMCID:
PMC10540004
ArticlePubReaderPDF–2.4MCite
6.
Rapid changes of mRNA expressions of cardiac ion channels affected by Torsadogenic drugs influence susceptibility of rat hearts to arrhythmias induced by Beta‐Adrenergic stimulation
Katarina Hadova, Jana Kmecova, Katarina Ochodnicka‐Mackovicova, Eva Kralova, Gabriel Doka, Lenka Bies Pivackova, Peter Vavrinec, Tatiana Stankovicova, Peter Krenek, Jan Klimas
Pharmacol Res Perspect. 2023 Oct; 11(5): e01134. Published online 2023 Sep 15. doi: 10.1002/prp2.1134
PMCID:
PMC10504435
ArticlePubReaderPDF–2.1MCite
7.
Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report
Carolina Melendez Valdez, Stephan Philip Leonhardt Altmayer, Adyr Eduardo Virmond Faria, Aline Weiss, Jorge Alberto Bianchi Telles, Paulo Renato Krall Fell, Luciano Vieira Targa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
Sao Paulo Med J. 2014; 132(5): 311–313. Published online 2014 Jul 29. doi: 10.1590/1516-3180.2014.1325737
PMCID:
PMC10496746
ArticlePubReaderPDF–777KCite
8.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, National Birth Defects Prevention Study, University of Washington Center for Mendelian Genomics, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
HGG Adv. 2023 Oct 12; 4(4): 100232. Published online 2023 Aug 12. doi: 10.1016/j.xhgg.2023.100232
PMCID:
PMC10474499
ArticlePubReaderPDF–1.2MCite
9.
Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly
Zhou Zhou, Xumei Huang, Xia Tang, Wen Chen, Qianlong Chen, Chaohui Zhang, Yuxin Li, Dachun Zhao, Zhe Zheng, Shengshou Hu, Jikui Wang, Iftikhar J. Kullo, Keyue Ding
HGG Adv. 2023 Oct 12; 4(4): 100227. Published online 2023 Jul 29. doi: 10.1016/j.xhgg.2023.100227
PMCID:
PMC10450520
ArticlePubReaderPDF–3.2MCite
10.
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network
Bailey A. Martin-Giacalone, Angela E. Lin, Sonja A. Rasmussen, Russell S. Kirby, Eirini Nestoridi, Rebecca F. Liberman, A. J. Agopian, John C. Carey, Janet D. Cragan, Nina Forestieri, Vinita Leedom, Aubree Boyce, Wendy N. Nembhard, Monika Piccardi, Theresa Sandidge, Xiaoyi Shan, Charles J. Shumate, Erin B. Stallings, Roger Stevenson, Philip J. Lupo
Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 7.
Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1339–1349. Published online 2023 Mar 15. doi: 10.1002/ajmg.a.63181
PMCID:
PMC10405780
ArticlePubReaderPDF–133KCite
11.
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
ArticlePubReaderPDF–8.8MCite
12.
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
E. Deniz, M. Pasha, M.E. Guerra, S. Viviano, W. Ji, M. Konstantino, L. Jeffries, S.A. Lakhani, L. Medne, C. Skraban, I. Krantz, M.K. Khokha
Dev Biol. Author manuscript; available in PMC 2023 Jul 27.
Published in final edited form as: Dev Biol. 2023 Jul; 499: 75–88. Published online 2023 May 10. doi: 10.1016/j.ydbio.2023.04.006
PMCID:
PMC10373286
ArticlePubReaderPDF–3.2MCite
13.
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Katja Birker, Shuchao Ge, Natalie J Kirkland, Jeanne L Theis, James Marchant, Zachary C Fogarty, Maria A Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J Engler, Karen Ocorr, Timothy J Nelson, Alexandre R Colas, Timothy M Olson, Georg Vogler, Rolf Bodmer
eLife. 2023; 12: e83385. Published online 2023 Jul 5. doi: 10.7554/eLife.83385
PMCID:
PMC10361721
ArticlePubReaderPDF–11MCite
14.
A novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review
Shipeng Tian, Hao Liang, Xiaolei Li, Boce Cao, Lu Feng, Lili Wang
BMC Cardiovasc Disord. 2023; 23: 352. Published online 2023 Jul 17. doi: 10.1186/s12872-023-03382-w
PMCID:
PMC10353140
ArticlePubReaderPDF–1.0MCite
15.
Left Ventricular Noncompaction: A Distinct Cardiomyopathy or a Trait Shared by Different Cardiac Diseases?
Eloisa Arbustini, Frank Weidemann, Jennifer L. Hall
J Am Coll Cardiol. Author manuscript; available in PMC 2023 Jul 18.
Published in final edited form as: J Am Coll Cardiol. 2014 Oct 28; 64(17): 1840–1850. Published online 2014 Oct 21. doi: 10.1016/j.jacc.2014.08.030
PMCID:
PMC10352990
ArticlePubReaderPDF–2.3MCite
16.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Michael Regnier, Michael J. Bamshad
HGG Adv. 2023 Jul 13; 4(3): 100213. Published online 2023 Jun 15. doi: 10.1016/j.xhgg.2023.100213
PMCID:
PMC10345160
ArticlePubReaderPDF–3.9MCite
17.
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo
Mol Genet Genomic Med. 2023 Jul; 11(7): e2190. Published online 2023 Apr 25. doi: 10.1002/mgg3.2190
PMCID:
PMC10337275
ArticlePubReaderPDF–1.1MCite
18.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W. M. Niessen, William Devine, Cecilia W. Lo, Hannah M. Mitchison, Miriam Schmidts, Gregory J. Pazour
PLoS Genet. 2023 Jun; 19(6): e1010796. Published online 2023 Jun 14. doi: 10.1371/journal.pgen.1010796
PMCID:
PMC10298753
ArticlePubReaderPDF–7.3MCite
19.
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line
Mahdi Moradi Marjaneh, Edwin P Kirk, Ralph Patrick, Dimuthu Alankarage, David T Humphreys, Gonzalo Del Monte-Nieto, Paola Cornejo-Paramo, Vaibhao Janbandhu, Tram B Doan, Sally L Dunwoodie, Emily S Wong, Chris Moran, Ian CA Martin, Peter C Thomson, Richard P Harvey
eLife. 2023; 12: e83606. Published online 2023 Jun 5. doi: 10.7554/eLife.83606
PMCID:
PMC10284603
ArticlePubReaderPDF–5.5MCite
20.
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1
Wei Shi, Angel P. Scialdone, James I. Emerson, Liu Mei, Lauren K. Wasson, Haley A. Davies, Christine E. Seidman, Jonathan G. Seidman, Jeanette G. Cook, Frank L. Conlon
Circ Res. 2023 Jun 23; 133(1): 48–67. Published online 2023 May 31. doi: 10.1161/CIRCRESAHA.122.322223
PMCID:
PMC10284140
ArticlePubReaderPDF–26MCite

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