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Items: 1 to 20 of 53

1.
Congenital heart defects caused by FOXJ1
Maria B Padua, Benjamin M Helm, John R Wells, Amanda M Smith, Helen M Bellchambers, Arthi Sridhar, Stephanie M Ware
Hum Mol Genet. 2023 Jul 15; 32(14): 2335–2346. Published online 2023 May 9. doi: 10.1093/hmg/ddad065
PMCID:
PMC10321388
AbstractArticlePDF–1.6M
2.
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission
Imad Najm, Dennis Lal, Mario Alonso Vanegas, Fernando Cendes, Iscia Lopes‐Cendes, Andre Palmini, Eliseu Paglioli, Harvey B. Sarnat, Christopher A. Walsh, Samuel Wiebe, Eleonora Aronica, Stéphanie Baulac, Roland Coras, Katja Kobow, J. Helen Cross, Rita Garbelli, Hans Holthausen, Karl Rössler, Maria Thom, Assam El‐Osta, Jeong Ho Lee, Hajime Miyata, Renzo Guerrini, Yue‐Shan Piao, Dong Zhou, Ingmar Blümcke
Epilepsia. 2022 Aug; 63(8): 1899–1919. Published online 2022 Jun 15. doi: 10.1111/epi.17301
PMCID:
PMC9545778
AbstractArticlePDF–4.6M
3.
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, Denise Horn, Petra Gehle
Interact Cardiovasc Thorac Surg. 2022 Jul; 35(1): ivac159. Published online 2022 Jun 11. doi: 10.1093/icvts/ivac159
PMCID:
PMC9240761
AbstractArticlePDF–337K
4.
A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report
İsmail Balaban, Meltem Ceyhan Bilgici, Kemal Baysal
BMC Pediatr. 2022; 22: 102. Published online 2022 Feb 21. doi: 10.1186/s12887-022-03137-0
PMCID:
PMC8862463
AbstractArticlePDF–1.5M
5.
Modeling Transposition of the Great Arteries with Patient-Specific Induced Pluripotent Stem Cells
Imelda Ontoria-Oviedo, Gabor Földes, Sandra Tejedor, Joaquín Panadero, Tomoya Kitani, Alejandro Vázquez, Joseph C. Wu, Sian E. Harding, Pilar Sepúlveda
Int J Mol Sci. 2021 Dec; 22(24): 13270. Published online 2021 Dec 9. doi: 10.3390/ijms222413270
PMCID:
PMC8705900
AbstractArticlePDF–1.7M
6.
Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?
Laura Caliogna, Viviana Guerrieri, Salvatore Annunziata, Valentina Bina, Alice Maria Brancato, Alberto Castelli, Eugenio Jannelli, Alessandro Ivone, Federico Alberto Grassi, Mario Mosconi, Gianluigi Pasta
Int J Mol Sci. 2021 Sep; 22(18): 10149. Published online 2021 Sep 20. doi: 10.3390/ijms221810149
PMCID:
PMC8469247
AbstractArticlePDF–533K
7.
From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart Defects
Martin Broberg, Johanna Hästbacka, Emmi Helle
Genes (Basel) 2021 Jun; 12(6): 921. Published online 2021 Jun 16. doi: 10.3390/genes12060921
PMCID:
PMC8235101
AbstractArticlePDF–642K
8.
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
A.F. Geraldo, R. Caorsi, D. Tortora, C. Gandolfo, R. Ammendola, M. Alessio, G. Conti, A. Insalaco, S. Pastore, S. Martino, I. Ceccherini, S. Signa, M. Gattorno, A. Rossi, M. Severino
AJNR Am J Neuroradiol. 2021 May; 42(5): 975–979. doi: 10.3174/ajnr.A7019
PMCID:
PMC8115359
AbstractArticlePDF–1.1M
9.
Importance of endothelial Hey1 expression for thoracic great vessel development and its distal enhancer for Notch-dependent endothelial transcription
Yusuke Watanabe, Daiki Seya, Dai Ihara, Shuhei Ishii, Taiki Uemoto, Atsushi Kubo, Yuji Arai, Yoshie Isomoto, Atsushi Nakano, Takaya Abe, Mayo Shigeta, Teruhisa Kawamura, Yoshihiko Saito, Toshihiko Ogura, Osamu Nakagawa
J Biol Chem. 2020 Dec 18; 295(51): 17632–17645. Published online 2020 Oct 16. doi: 10.1074/jbc.RA120.015003
PMCID:
PMC7762959
AbstractArticlePDF–4.0M
10.
LncRNA DANCR attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through regulating of miR-33a-5p/XBP1s
Mengqi Zhang, Mimi Tang, Qian Wu, Zhuolu Wang, Zhuohui Chen, Hui Ding, Xinhang Hu, Xinyi Lv, Songfeng Zhao, Jingyan Sun, Shuntong Kang, Tong Wu, Bo Xiao
Aging (Albany NY) 2020 Jan 31; 12(2): 1778–1791. Published online 2020 Jan 26. doi: 10.18632/aging.102712
PMCID:
PMC7053632
AbstractArticlePDF–6.0M
11.
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
Dongheon Surl, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Junwon Lee, Suk Ho Byeon, Sueng-Han Han, Hyun Taek Lim, Jinu Han
Mol Vis. 2020; 26: 26–35. Published online 2020 Feb 24.
PMCID:
PMC7043639
AbstractArticlePDF–1.7M
12.
Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease
Daniyal J Jafree, Dale Moulding, Maria Kolatsi-Joannou, Nuria Perretta Tejedor, Karen L Price, Natalie J Milmoe, Claire L Walsh, Rosa Maria Correra, Paul JD Winyard, Peter C Harris, Christiana Ruhrberg, Simon Walker-Samuel, Paul R Riley, Adrian S Woolf, Peter J Scambler, David A Long
eLife. 2019; 8: e48183. Published online 2019 Dec 6. doi: 10.7554/eLife.48183
PMCID:
PMC6948954
AbstractArticlePDF–4.3M
13.
The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report
Valter Romão De Souza, Jr, Victor Moreira Valença de Lemos, Daniell de Siqueira Araújo Lafayette, Roberto Souza de Lemos, Luciana de Barros Correia Fontes, Glaydes Maria Torres de Lima, Cláudia Wanderley de Barros Correia, Ana Lucia Coutinho Domingues, Amanda Queiroz da Mota Silveira Aroucha, Igor Macedo de Oliveira, Gabriel Pinheiro Santos, Ana Maria Vanderlei, Vladmyr Moreira Valença de Lemos, João Vitor Sostenes Peter, Juliana Oliveira Vieira, Aline Rayane Pereira Mariano, Turíbio Anacleto Gomes, Alice Marcelle de Souza Ferraz, José Henrique Sousa do Amaral, Esdras Marques Lins, Marcos André Cavalcanti Bezerra, Paulo Sérgio Ramos de Araújo, Adriana Ferraz de Vasconcelos, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
Medicine (Baltimore) 2018 Jun; 97(22): e10511. Published online 2018 Jun 1. doi: 10.1097/MD.0000000000010511
PMCID:
PMC6392798
AbstractArticlePDF–1.0M
14.
Lymphatic Vascular Structures: A New Aspect in Proliferative Diabetic Retinopathy
Erika Gucciardo, Sirpa Loukovaara, Petri Salven, Kaisa Lehti
Int J Mol Sci. 2018 Dec; 19(12): 4034. Published online 2018 Dec 13. doi: 10.3390/ijms19124034
PMCID:
PMC6321212
AbstractArticlePDF–1.8M
15.
Hepatocellular carcinoma-derived exosomal miRNA-21 contributes to tumor progression by converting hepatocyte stellate cells to cancer-associated fibroblasts
Yuan Zhou, Haozhen Ren, Bo Dai, Jun Li, Longcheng Shang, Jianfei Huang, Xiaolei Shi
J Exp Clin Cancer Res. 2018; 37: 324. Published online 2018 Dec 27. doi: 10.1186/s13046-018-0965-2
Correction in:
J Exp Clin Cancer Res. 2022; 41: 359.
PMCID:
PMC6307162
AbstractArticlePDF–4.5M
16.
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome
Holly Corbitt, Shaine A. Morris, Claus H. Gravholt, Kristian H. Mortensen, Rebecca Tippner-Hedges, Michael Silberbach, Cheryl L. Maslen, GenTAC Registry Investigators
PLoS Genet. 2018 Oct; 14(10): e1007692. Published online 2018 Oct 3. doi: 10.1371/journal.pgen.1007692
PMCID:
PMC6188895
AbstractArticlePDF–2.0M
17.
Somatic Activating Mutations in Pik3ca Cause Sporadic Venous Malformations in Mice and Humans
Sandra D. Castillo, Elena Tzouanacou, May Zaw-Thin, Inma M. Berenjeno, Victoria E.R. Parker, Iñigo Chivite, Maria Milà-Guasch, Wayne Pearce, Isabelle Solomon, Ana Angulo-Urarte, Ana M. Figueiredo, Robert E. Dewhurst, Rachel G. Knox, Graeme R. Clark, Cheryl L. Scudamore, Adam Badar, Tammy L. Kalber, Julie Foster, Daniel J. Stuckey, Anna L. David, Wayne A. Phillips, Mark F. Lythgoe, Valerie Wilson, Robert K. Semple, Neil J. Sebire, Veronica A. Kinsler, Mariona Graupera, Bart Vanhaesebroeck
Sci Transl Med. Author manuscript; available in PMC 2018 May 29.
Published in final edited form as: Sci Transl Med. 2016 Mar 30; 8(332): 332ra43. doi: 10.1126/scitranslmed.aad9982
PMCID:
PMC5973268
AbstractArticlePDF–2.4M
18.
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A. Andrews, Paulina Stadnik, Agnel P. Joseph, Rachel Knox, Alan Pittman, Graeme Clark, William Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan M. Huson, Thomas S. Jacques, Gregory James, Hannah Kondolf, Loshan Kangesu, Kim M. Keppler-Noreuil, Amjad Khan, Marjorie J. Lindhurst, Mark Lipson, Sahar Mansour, Justine O’Hara, Caroline Mahon, Anda Mosica, Celia Moss, Aditi Murthy, Juling Ong, Victoria E. Parker, Jean-Baptiste Rivière, Julie C. Sapp, Neil J. Sebire, Rahul Shah, Branavan Sivakumar, Anna Thomas, Alex Virasami, Regula Waelchli, Zhiqiang Zeng, Leslie G. Biesecker, Alex Barnacle, Maya Topf, Robert K. Semple, E. Elizabeth Patton, Veronica A. Kinsler
J Clin Invest. 2018 Apr 2; 128(4): 1496–1508. Published online 2018 Mar 12. doi: 10.1172/JCI98589
Correction in:
J Clin Invest. 2018 Nov 1; 128(11): 5185.
PMCID:
PMC5873857
AbstractArticlePDF–13M
19.
MiR-137 inhibited cell proliferation and migration of vascular smooth muscle cells via targeting IGFBP-5 and modulating the mTOR/STAT3 signaling
Jin Pan, Kai Li, Wei Huang, Xiaoqing Zhang
PLoS One. 2017; 12(10): e0186245. Published online 2017 Oct 10. doi: 10.1371/journal.pone.0186245
PMCID:
PMC5634643
AbstractArticlePDF–4.0M
20.
Celecoxib normalizes the tumor microenvironment and enhances small nanotherapeutics delivery to A549 tumors in nude mice
Bo Zhang, Kai Jin, Ting Jiang, Lanting Wang, Shun Shen, Zimiao Luo, Yanyan Tuo, Xianping Liu, Yu Hu, Zhiqing Pang
Sci Rep. 2017; 7: 10071. Published online 2017 Aug 30. doi: 10.1038/s41598-017-09520-7
PMCID:
PMC5577220
AbstractArticlePDF–5.2M

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