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Autor
Airola, Michael V 1 Ambrose, Matthew 1 Ange-Line, Bruel 1 Aristidou-Kallika, Aphrodite 1 Barnett, Joey V 1 Beekman, Leander 1 Bezzina, Connie R 1 Bouman, Katelijne 1 Bowling, Forrest Z 1 Brown, H Alex 1 Burn, Sabrina C 1 Cherny, Sara 1 Clur, Sally-Ann 1 De Laughter, Daniel M 1 Denommé-Pichon, Anne-Sophie 1 Dutman, Annemiek C 1 Elpeleg, Orly 1 Francannet, Christine 1 Frohman, Michael A 1 Gunst, Quinn 1
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Pracoviště
Amsterdam UMC University of Amsterdam... 1 Children's Heart Centre 2nd Faculty o... 1 Cyprus School of Molecular Medicine N... 1 Department of Biochemistry and Cell B... 1 Department of Cell and Developmental ... 1 Department of Clinical Genetics The C... 1 Department of Clinical Genetics and 1 Department of Genetics Hadassah Hebre... 1 Department of Human Genetics Leiden U... 1 Department of Human Genetics Leiden U... 1 Department of Medical Biology Amsterd... 1 Department of Obstetrics Gynecology a... 1 Department of Obstetrics and 1 Department of Pathology Isala Women a... 1 Department of Pediatric Cardiology Em... 1 Department of Pediatric Cardiology Ha... 1 Department of Pediatric Cardiology Le... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Ochsner Clin... 1 Department of Pediatrics University o... 1
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Autor
Airola, Michael V 1 Ambrose, Matthew 1 Ange-Line, Bruel 1 Aristidou-Kallika, Aphrodite 1 Barnett, Joey V 1 Beekman, Leander 1 Bezzina, Connie R 1 Bouman, Katelijne 1 Bowling, Forrest Z 1 Brown, H Alex 1 Burn, Sabrina C 1 Cherny, Sara 1 Clur, Sally-Ann 1 De Laughter, Daniel M 1 Denommé-Pichon, Anne-Sophie 1 Dutman, Annemiek C 1 Elpeleg, Orly 1 Francannet, Christine 1 Frohman, Michael A 1 Gunst, Quinn 1
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Pracoviště
Amsterdam UMC University of Amsterdam... 1 Children's Heart Centre 2nd Faculty o... 1 Cyprus School of Molecular Medicine N... 1 Department of Biochemistry and Cell B... 1 Department of Cell and Developmental ... 1 Department of Clinical Genetics The C... 1 Department of Clinical Genetics and 1 Department of Genetics Hadassah Hebre... 1 Department of Human Genetics Leiden U... 1 Department of Human Genetics Leiden U... 1 Department of Medical Biology Amsterd... 1 Department of Obstetrics Gynecology a... 1 Department of Obstetrics and 1 Department of Pathology Isala Women a... 1 Department of Pediatric Cardiology Em... 1 Department of Pediatric Cardiology Ha... 1 Department of Pediatric Cardiology Le... 1 Department of Pediatrics Division of ... 1 Department of Pediatrics Ochsner Clin... 1 Department of Pediatrics University o... 1
- Formát
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- Země
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NLK
Free Medical Journals
od 1924 do Před 1 rokem
Freely Accessible Science Journals
od 1924 do Před 1 rokem
PubMed Central
od 1924 do Před 1 rokem
Europe PubMed Central
od 1924 do Před 1 rokem
ProQuest Central
od 2002-07-01
Open Access Digital Library
od 1924-10-01
Open Access Digital Library
od 1925-08-01
Medline Complete (EBSCOhost)
od 2002-01-01 do 2021-08-16
Nursing & Allied Health Database (ProQuest)
od 2002-07-01
Health & Medicine (ProQuest)
od 2002-07-01
ROAD: Directory of Open Access Scholarly Resources
od 1924
PubMed
33645542
DOI
10.1172/jci142148
Knihovny.cz E-zdroje
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects. We also associated recessive PLD1 variants with isolated neonatal cardiomyopathy. Furthermore, we established that p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%) and describe the phenotypic spectrum of PLD1-associated congenital heart defects. PLD1 missense variants were overrepresented in regions of the protein critical for catalytic activity, and, correspondingly, we observed a strong reduction in enzymatic activity for most of the mutant proteins in an enzymatic assay. Finally, we demonstrate that PLD1 inhibition decreased endothelial-mesenchymal transition, an established pivotal early step in valvulogenesis. In conclusion, our study provides a more detailed understanding of disease mechanisms and phenotypic expression associated with PLD1 loss of function.
- MeSH
- alely * MeSH
- fosfolipasa D * genetika metabolismus MeSH
- lidé MeSH
- mutace ztráty funkce * MeSH
- nemoci srdečních chlopní * enzymologie genetika MeSH
- vrozené srdeční vady * enzymologie genetika MeSH
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- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
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