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Page 1
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Jin SC, et al. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. Nat Genet. 2017. PMID: 28991257 Free PMC article.
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation …
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,8 …
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A, Talebi T, Ghasemi S, Pourirahim M, Naderi N, Maleki M, Kalayinia S. Tabib A, et al. Eur J Med Res. 2022 Dec 10;27(1):286. doi: 10.1186/s40001-022-00920-8. Eur J Med Res. 2022. PMID: 36496429 Free PMC article.
BACKGROUND: Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the heart and great vessels. ...FLT4 encodes a receptor tyrosine kinase involved in lymphatic development and is known as vascular …
BACKGROUND: Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the …
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Gordon K, et al. Hum Mutat. 2013 Jan;34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 23074044 Review.
Several reports have since been published detailing pathogenic FLT4 mutations. To date, a total of 58 different variants in FLT4, 20 of which are unpublished, have been observed in 95 families with MD. ...All the data reviewed here has been submitted to a database b …
Several reports have since been published detailing pathogenic FLT4 mutations. To date, a total of 58 different variants in FLT4 …
Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis.
Fontana F, Haack T, Reichenbach M, Knaus P, Puceat M, Abdelilah-Seyfried S. Fontana F, et al. Cell Rep. 2020 Jul 14;32(2):107883. doi: 10.1016/j.celrep.2020.107883. Cell Rep. 2020. PMID: 32668254 Free article.
Both pathways negatively regulate the angiogenesis receptor Vegfr3/Flt4, which becomes restricted to abluminal endocardial cells. Its loss disrupts valve morphogenesis and results in the occurrence of Notch signaling within abluminal endocardial cells. Our work explains ho …
Both pathways negatively regulate the angiogenesis receptor Vegfr3/Flt4, which becomes restricted to abluminal endocardial cells. Its …
Functions and Regeneration of Mature Cardiac Lymphatic Vessels in Atherosclerosis, Myocardial Infarction, and Heart Failure.
Zhang Y, Bai Y, Jing Q, Qian J. Zhang Y, et al. Lymphat Res Biol. 2018 Dec;16(6):507-515. doi: 10.1089/lrb.2018.0023. Epub 2018 Oct 19. Lymphat Res Biol. 2018. PMID: 30339474 Review.
In the major cardiovascular disease series of atherosclerosis, myocardial infarction (MI), and heart failure, cardiac lymphatics regulate the transportation of extravasated proteins and lipids, inflammatory and immune responses, as well as fluid balance. ...
In the major cardiovascular disease series of atherosclerosis, myocardial infarction (MI), and heart failure, cardiac lymphatics regu …
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ, Hentges KE. Althali NJ, et al. Front Physiol. 2022 Oct 6;13:1012665. doi: 10.3389/fphys.2022.1012665. eCollection 2022. Front Physiol. 2022. PMID: 36277185 Free PMC article. Review.
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. ...
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. . …
The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases.
Monaghan RM, Page DJ, Ostergaard P, Keavney BD. Monaghan RM, et al. Cardiovasc Res. 2021 Jul 7;117(8):1877-1890. doi: 10.1093/cvr/cvaa291. Cardiovasc Res. 2021. PMID: 33067626 Free PMC article. Review.
Autosomal dominant VEGFR3 mutations, that prevent the receptor functioning as a homodimer, cause one of the major forms of hereditary primary lymphoedema; Milroy disease. Recently, we and others have shown that FLT4 variants, distinct to those observed in Milroy disease ca …
Autosomal dominant VEGFR3 mutations, that prevent the receptor functioning as a homodimer, cause one of the major forms of hereditary primar …
The related FLT4, FLT1, and KDR receptor tyrosine kinases show distinct expression patterns in human fetal endothelial cells.
Kaipainen A, Korhonen J, Pajusola K, Aprelikova O, Persico MG, Terman BI, Alitalo K. Kaipainen A, et al. J Exp Med. 1993 Dec 1;178(6):2077-88. doi: 10.1084/jem.178.6.2077. J Exp Med. 1993. PMID: 8245783 Free PMC article.
We have here studied the expression of FLT4 and the other two members of this receptor family in human fetal tissues by Northern and in situ hybridization. ...A comparison of FLT4, FLT1 and KDR/FLK-1 receptor mRNA signals shows overlapping, but distinct expression p …
We have here studied the expression of FLT4 and the other two members of this receptor family in human fetal tissues by Northern and …
Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.
Jin Y, Zhao M, Guo Q, Zhao W, Lei M, Zhang Y, Zhang Y, Shen Y, Lin K, Yang Z, Chu J, Sun H, Luo Z. Jin Y, et al. Ital J Pediatr. 2024 Apr 5;50(1):62. doi: 10.1186/s13052-024-01630-z. Ital J Pediatr. 2024. PMID: 38581027 Free PMC article.
BACKGROUND: Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic factors of ASD remain unclear. ...Only the association with the FLT4 polymorphism was statistically significant af …
BACKGROUND: Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been …
Quantitative Three-Dimensional Analysis of the Lymphatic Vasculature in the Postnatal Mouse Heart.
Klaourakis K, Riley PR, Vieira JM. Klaourakis K, et al. Methods Mol Biol. 2022;2441:171-181. doi: 10.1007/978-1-0716-2059-5_13. Methods Mol Biol. 2022. PMID: 35099736
For imaging and quantitative analysis of the sub-epicardial network in neonatal hearts, VEGFR3 was selected given its exclusive expression in the lymphatic endothelium. In addition to LECs, LYVE1 expression was detected in tissue-resident macrophages, PDPN in the epicardiu …
For imaging and quantitative analysis of the sub-epicardial network in neonatal hearts, VEGFR3 was selected given its exclusive expre …
57 results