PMC Articles for MedGen (Select 393713) - PMC

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6

PMCID:: PMC10403872

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Select item 103973754.

Exosome‐derived ANXA9 functions as an oncogene in breast cancer

Cuiping Lu, Ying Zhan, Yunshan Jiang, Jianrong Liao, Zidan Qiu

J Pathol Clin Res. 2023 Sep; 9(5): 378–390. Published online 2023 Jun 9. doi: 10.1002/cjp2.334

PMCID:: PMC10397375

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Select item 103531405.

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

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Select item 103529906.

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

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Select item 103451607.

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

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Select item 103372758.

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

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Select item 103032049.

Impaired Cardiomyocyte Maturation Leading to DCM: A Case Report and Literature Review

Letao Zhou, Jinglan Huang, Hong Li, Hongyu Duan, Yimin Hua, Yuxuan Guo, Kaiyu Zhou, Yifei Li

Medicina (Kaunas) 2023 Jun; 59(6): 1158. Published online 2023 Jun 16. doi: 10.3390/medicina59061158

PMCID:: PMC10303204

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Select item 1028879210.

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction

Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Yoram Etzion, Rivka Ofir, Ruti Parvari, Smadar Cohen

Biol Res. 2023; 56: 34. Published online 2023 Jun 23. doi: 10.1186/s40659-023-00442-5

PMCID:: PMC10288792

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Select item 1028414011.

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

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Select item 1026594612.

Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function

Maicon Landim-Vieira, Weikang Ma, Taejeong Song, Hosna Rastegarpouyani, Henry Gong, Isabella Leite Coscarella, Sylvia J. P. Bogaards, Stefan P. Conijn, Coen A. C. Ottenheijm, Hyun S. Hwang, Maria Papadaki, Bjorn C. Knollmann, Sakthivel Sadayappan, Thomas C. Irving, Vitold E. Galkin, P. Bryant Chase, Jose Renato Pinto

Proc Natl Acad Sci U S A. 2023 Jun 6; 120(23): e2221244120. Published online 2023 May 30. doi: 10.1073/pnas.2221244120

PMCID:: PMC10265946

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Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto

Mol Genet Genomic Med. 2023 May; 11(5): e2143. Published online 2023 Feb 14. doi: 10.1002/mgg3.2143

PMCID:: PMC10178800

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A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?

Bo Yu, Kun Shi, Yang Wen, Yanfeng Yang

BMC Cardiovasc Disord. 2023; 23: 224. Published online 2023 Apr 29. doi: 10.1186/s12872-023-03132-y

PMCID:: PMC10149031

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Endothelial deletion of PTBP1 disrupts ventricular chamber development

Hongyu Liu, Ran Duan, Xiaoyu He, Jincu Qi, Tianming Xing, Yahan Wu, Liping Zhou, Lingling Wang, Yujing Shao, Fulei Zhang, Huixing Zhou, Xingdong Gu, Bowen Lin, Yuanyuan Liu, Yan Wang, Yi Liu, Li Li, Dandan Liang, Yi-Han Chen

Nat Commun. 2023; 14: 1796. Published online 2023 Mar 31. doi: 10.1038/s41467-023-37409-9

PMCID:: PMC10066379

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Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review

Qin Zhang, Qianqian Ouyang, Jingjing Xiang, Hong Li, Haitao Lv, Yu An

Genes (Basel) 2023 Mar; 14(3): 552. Published online 2023 Feb 22. doi: 10.3390/genes14030552

PMCID:: PMC10048406

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Select item 994616917.

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy

Nay Aung, Luis R. Lopes, Stefan van Duijvenboden, Andrew R. Harper, Anuj Goel, Christopher Grace, Carolyn Y. Ho, William S. Weintraub, Christopher M. Kramer, Stefan Neubauer, Hugh C. Watkins, Steffen E. Petersen, Patricia B. Munroe

Circ Genom Precis Med. 2023 Feb; 16(1): e003716. Published online 2023 Jan 4. doi: 10.1161/CIRCGEN.122.003716

PMCID:: PMC9946169

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Select item 986490018.

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari

Int J Mol Sci. 2023 Jan; 24(2): 1388. Published online 2023 Jan 10. doi: 10.3390/ijms24021388

PMCID:: PMC9864900

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Select item 982301219.

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian

Eur J Hum Genet. 2023 Jan; 31(1): 97–104. Published online 2022 Oct 17. doi: 10.1038/s41431-022-01204-9

PMCID:: PMC9823012

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Select item 978263520.

PLEKHM2 Loss of Function Impairs the Activity of iPSC-Derived Neurons via Regulation of Autophagic Flux

Hadas Ben-Zvi, Tatiana Rabinski, Rivka Ofir, Smadar Cohen, Gad D. Vatine

Int J Mol Sci. 2022 Dec; 23(24): 16092. Published online 2022 Dec 17. doi: 10.3390/ijms232416092

PMCID:: PMC9782635

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