Publications

Publications from Projects Funded by the LMI

2024

NRASQ61R mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model.

Pastura P, McDaniel CG, Alharbi S, Fox D, Coleman B, Malik P, Adams DM, Le Cras TD. Pediatr Blood Cancer. 2024 Jul;71(7):e31032. doi: 10.1002/pbc.31032.

https://pubmed.ncbi.nlm.nih.gov/38711167/

Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system.

Sisk B, Lin S, Kerr AM. Orphanet J Rare Dis. 2024 Jan 18;19(1):18. doi: 10.1186/s13023-024-03018-y.

https://pubmed.ncbi.nlm.nih.gov/38238812/

2023

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.

https://pubmed.ncbi.nlm.nih.gov/37264205/

The Lymphatic Endothelial Cell Secretome Inhibits Osteoblast Differentiation and Bone Formation.

Solorzano E, Alejo AL, Ball HC, Robinson GT, Solorzano AL, Safadi R, Douglas J, Kelly M, Safadi FF. Cells. 2023 Oct 18;12(20):2482. doi: 10.3390/cells12202482.

https://pubmed.ncbi.nlm.nih.gov/37887326/

Vascular Anomalies Care in the United States: A Cross-Sectional National Survey.

Cohen-Cutler S, Blatt J, Bayliff S, Iacobas I, Hammill A, Sisk BA. J Pediatr. 2023 Oct;261:113579. doi: 10.1016/j.jpeds.2023.113579. Epub 2023 Jun 22.

https://pubmed.ncbi.nlm.nih.gov/37353145/

Communication with parents and young adult patients affected by complex vascular
malformations.

Sisk B, Bereitschaft C, Kerr A. Pediatr Blood Cancer. 2023 Mar;70(3):e30158. doi: 10.1002/pbc.30158. Epub 2022 Dec 22.

https://pubmed.ncbi.nlm.nih.gov/36545911/

Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.

McDaniel et al., 2023. Pediatr Blood Cancer. doi: 10.1002/pbc.30219.

https://pubmed.ncbi.nlm.nih.gov/36683202/

2022

NRASQ61R mutation in human endothelial cells causes vascular malformations.

Boscolo et al., 2022. Angiogenesis. 25;331-342.

https://pubmed.ncbi.nlm.nih.gov/35391614/

2021

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib.

Homayun-Sepehr et al., 2021. JCI Insight. 6(15):e149831.

https://pubmed.ncbi.nlm.nih.gov/34156985/

2020

Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels.

Crane J, et al., 2020. Pediatr Blood Cancer. Jul 7:e28529.

https://pubmed.ncbi.nlm.nih.gov/32634277/

Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.

Le Cras et al., 2020. Angiogenesis. 23;425-442.

https://pubmed.ncbi.nlm.nih.gov/32350708/

Lymphatics in bone arise from pre-existing lymphatics.

Monroy et al., 2020. Development. 2020 Apr 20;147(21):dev184291.

https://pubmed.ncbi.nlm.nih.gov/32188632/

Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus.

Iacobas et al., 2020. Pediatr Blood Cancer. Jan;67(1):e28036.

https://pubmed.ncbi.nlm.nih.gov/31617676/

Abnormal Pulmonary Lymphatic Flow in Patients With Lymphatic Anomalies and Respiratory Compromise.

Itkin et al., 2020. Chest. Mar 24:S0012-3692(20)30474-8. doi: 10.1016/j.chest.2020.02.058. PMID: 32220591

https://pubmed.ncbi.nlm.nih.gov/32220591/

2019

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna et al., 2019 Journal of Experimental Medicine. 216;407-418.

https://www.ncbi.nlm.nih.gov/pubmed/30591517

Signaling pathways and inhibitors of cells from patients with kaposiform lymphangiomatosis.

Boscolo et al., 2019. Pediatr Blood Cancer. Aug;66(8):e27790.

https://www.ncbi.nlm.nih.gov/pubmed/31045327

2018

VEGF-C promotes the development of lymphatics in bone and bone loss.

Hominick et al., 2018. eLife 2018;7:e34323

https://www.ncbi.nlm.nih.gov/pubmed/29620526

2017

Rapamycin reversal of VEGF-C-driven lymphatic anomalies in the respiratory tract.

Baluk et al., 2017. JCI Insight. 2017 Aug 17;2(16). pii: 90103

https://www.ncbi.nlm.nih.gov/pubmed/28814666

Lymphatic Endothelial Cells Produce M-CSF, Causing Massive Bone Loss in Mice.

Wang et al., 2017. J Bone Miner Res. 32;939-950.

https://www.ncbi.nlm.nih.gov/pubmed/28052488

Angiopoietins as serum biomarkers for lymphatic anomalies.

Le Cras et al., 2017. Angiogenesis. 20;163-173.

https://www.ncbi.nlm.nih.gov/pubmed/27990590

2016

Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate.

Mori et al., 2016. Orphanet J Rare Dis.11:67.

https://www.ncbi.nlm.nih.gov/pubmed/27194137

Meeting report for the 2016 conference on GLA and Gorham-Stout disease

Iacobas et al., 2016. IBMS BoneKEy.

http://triggered.edina.clockss.org/ServeContent?url=https://knowledgeenvironment.stanford.clockss.org/2016/bonekey_2016_bonekey201676_xml_pdf/pdf_temp/bonekey201676.pdf

A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease.

Ludwig et al., 2016. Lymphology. 49;73-84.

https://www.ncbi.nlm.nih.gov/pubmed/29906363