Publications from Projects Funded by the LMI and MDBR Programs
2025
Lyve1-Driven NrasQ61R Causes Edema, Enlarged Lymphatic Vessels, and Hepatic Vascular Defects in Embryonic Mice
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.
RAS Pathway Mutations and Therapeutics in Vascular Anomalies
Alharbi S, Merkle S, Hammill AM, Waters AM, Le Cras TD.
Pediatr Blood Cancer. 2025 May;72(5):e31605. doi: 10.1002/pbc.31605. Epub 2025 Feb 21
Understanding the Lymphatic System: Tissue-on-Chip Modeling
Polacheck WJ, Dixon JB, Aw WY. Annu Rev Biomed Eng. 2025 Jan 22. doi: 10.1146/annurev-bioeng-110222-100246. Online ahead of print.
Dysfunctional Mechanotransduction Regulates the Progression of PIK3CA-driven Vascular Malformations
Aw WY, Sawhney A, Rathod M, Whitworth CP, Doherty EL, Madden E, Lu J, Westphal K, Stack R, Polacheck WJ. APL Bioeng. 2025 Feb 5;9(1):016106. doi: 10.1063/5.0234507. eCollection 2025 Mar.
2024
Meeting Report for the 2023 International Scientific Conference on Complex Lymphatic Anomalies
Dellinger, Michael T.; Ferry, Tiffany; Williams, David; More Journal of Vascular Anomalies. 5(2):e085, June 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.
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.
The Role of Perceived Health-Related Information Adequacy in the Experiences of Parents of Children With Complex Vascular Anomalies
Mirpuri KK, Sisk B, Bereitschaft C, Kerr AM. Pediatr Blood Cancer. 2025 Jun;72(6):e31697. doi: 10.1002/pbc.31697. Epub 2025 Apr 2.
The Role of Primary Care in Rare Disorders: A Qualitative Study of Parents and Patients Managing Complex Vascular Anomalies
Kerr AM, Bereitschaft C, Sisk B. J Family Med Prim Care. 2024 May;13(5):2116-2122. doi: 10.4103/jfmpc.jfmpc_1556_23. Epub 2024 May 24.
2023
Microphysiological Model of PIK3CA-driven Vascular Malformations Reveals a Role of Dysregulated Rac1 and mTORC1/2 in Lesion Formation
Aw WY, Cho C, Wang H, Cooper AH, Doherty EL, Rocco D, Huang SA, Kubik S, Whitworth CP, Armstrong R, Hickey AJ, Griffith B, Kutys ML, Blatt J, Polacheck WJ. Sci Adv. 2023 Feb 15;9(7):eade8939. doi: 10.1126/sciadv.ade8939. Epub 2023 Feb 15.
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.
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.
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.
Kaposiform Lymphangiomatosis: Diagnosis, Pathogenesis, and Treatment
McDaniel et al., 2023. Pediatr Blood Cancer. doi: 10.1002/pbc.30219.
2022
Impact of High Fat Diet and Bolus Feeding on Chyle Accumulation in a Mouse Model of Generalized Lymphatic Anomaly
Creed H, Sanfelippo AN, Reyna AJ, Chakraborty A, Rutkowski JM., Lymphat Res Biol. 2022 Aug;20(4):358-367.
NRASQ61R Mutation in Human Endothelial Cells Causes Vascular Malformations
Boscolo et al., 2022. Angiogenesis. 25; 331-342.
2021
KRAS-driven Model of Gorham-Stout Disease Effectively Treated with Trametinib
Homayun-Sepehr et al., 2021. JCI Insight. 6(15):e149831.
Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease
Rossi M, Rana I, Buonuomo PS, Battafarano G, De Martino V, D’Agostini M, Porzio O, Cipriani C, Minisola S, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A.
Front Cell Dev Biol. 2021 Aug 27;9:706596. doi: 10.3389/fcell.2021.706596.
Dysregulated miRNAs in Bone Cells of Patients with Gorham-Stout Disease
Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D’Agostini M, Porzio O, De Martino V, Minisola S, Macchiaiolo M, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A. FASEB J. 2021 Mar;35(3):e21424. doi: 10.1096/fj.202001904RR.
2020
Dissecting the Mechanisms of Bone Loss in Gorham-Stout Disease
Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D’Agostini M, Macchiaiolo M, De Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, Del Fattore A.
Bone. 2020 Jan;130:115068. doi: 10.1016/j.bone.2019.115068. Epub 2019 Sep 13.
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. L
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.
Lymphatics in Bone Arise from Pre-existing Lymphatics
Monroy et al., 2020. Development. 2020 Apr 20;147(21):dev184291.
Multidisciplinary Guidelines for Initial Evaluation of Complicated Lymphatic Anomalies-Expert Opinion Consensus
Iacobas et al., 2020. Pediatr Blood Cancer. Jan;67(1):e28036.
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
2019
Somatic Activating Mutations in PIK3CA Cause Generalized Lymphatic Anomaly
Rodriguez-Laguna et al., 2019 Journal of Experimental Medicine. 216;407-418.
Signaling Pathways and Inhibitors of Cells from Patients with Kaposiform Lymphangiomatosis
Boscolo et al., 2019. Pediatr Blood Cancer. Aug;66(8):e27790.
2018
VEGF-C Promotes the Development of Lymphatics in Bone and Bone Loss
Hominick et al., 2018. eLife 2018;7:e34323
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
Lymphatic Endothelial Cells Produce M-CSF, Causing Massive Bone Loss in Mice
Wang et al., 2017. J Bone Miner Res. 32;939-950.
Angiopoietins as Serum Biomarkers for Lymphatic Anomalies
Le Cras et al., 2017. Angiogenesis. 20;163-173.
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.
Meeting Report for the 2016 Conference on GLA and Gorham-Stout disease
Iacobas et al., 2016. IBMS BoneKEy.
A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease
Ludwig et al., 2016. Lymphology. 49;73-84.
2015
Caution is Recommended Prior to Sildenafil Use in Vascular Anomalies
Rankin et al., 2015. Pediatr Blood Cancer 62;2015-2017.
Near-Infrared Fluorescence Lymphatic Imaging in Lymphangiomatosis
Rasmussen et al., 2015. Lymphat Res Biol 13;195-201.
2014
Kaposiform Lymphangiomatosis: A Distinct Aggressive Lymphatic Anomaly
Croteau et al., 2014. J Pediatr 164;383-388.
Viewpoints on Vessels and Vanishing Bones in Gorham-Stout Disease
Dellinger et al., 2014. Bone 63;47-52.
Pulmonary Lymphangiectasia Resulting from Vegf-C Overexpression During a Critical Period
Yao et al., 2014. Circ Res 114;806-822.
2013
First International Conference on Generalized Lymphatic Anomaly and Gorham–Stout Syndrome
Dellinger et al., 2013. IBMS BoneKEy 10; Article number:476.