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Select item 108299431.

Microcystic Lymphatic Malformations in Turner Syndrome are due to Somatic Mosaicism of PIK3CA

Bede N. Nriagu, Lydia S. Williams, Niambi Brewer, Lea F. Surrey, Abhay S. Srinivasan, Dong Li, Allison Britt, James Treat, T. Blaine Crowley, Nora O’Connor, Arupa Ganguly, David Low, Maria Queenan, Theodore G. Drivas, Elaine H. Zackai, Denise M. Adams, Hakon Hakonarson, Kristen M. Snyder, Sarah E. Sheppard

Am J Med Genet A. Author manuscript; available in PMC 2024 Jan 31.

Published in final edited form as: Am J Med Genet A. 2024 Jan; 194(1): 64–69. Published online 2023 Sep 13. doi: 10.1002/ajmg.a.63385

PMCID:: PMC10829943

Article PDF–893K

Select item 107245082.

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271

PMCID:: PMC10724508

Article PDF–1.7M

Select item 106253503.

Mechanism of LEF1-AS1 regulating HUVEC cells by targeting miR-489-3p/S100A11 axis

Haoran Zhang, Wenqiu Wang, Junjie Lin, Junbo Qiao, Xinjun Wang, Bin Fang, Changkuan Chen, Yujiao Wang, Gaozan Zhu, Wenbo Liu

PeerJ. 2023; 11: e16128. Published online 2023 Nov 1. doi: 10.7717/peerj.16128

PMCID:: PMC10625350

Article PDF–12M

Select item 104964944.

DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations

Haopei Zhang, Qiuyue Chen, Qianqian Zhang, Hairun Gan, Hanjie Li, Shoudeng Chen, Hong Shan, Pengfei Pang, Huanhuan He

Int J Biol Sci. 2023; 19(13): 4123–4138. Published online 2023 Aug 6. doi: 10.7150/ijbs.84097

PMCID:: PMC10496494

Article PDF–7.9M

Select item 104781885.

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Yuki Sasaki, Kosuke Ishikawa, Kanako C. Hatanaka, Yumiko Oyamada, Yusuke Sakuhara, Tadashi Shimizu, Tatsuro Saito, Naoki Murao, Tomohiro Onodera, Takahiro Miura, Taku Maeda, Emi Funayama, Yutaka Hatanaka, Yuhei Yamamoto, Satoru Sasaki

Orphanet J Rare Dis. 2023; 18: 270. Published online 2023 Sep 4. doi: 10.1186/s13023-023-02893-1

PMCID:: PMC10478188

Article PDF–2.4M

Select item 104544366.

Atypical Intraparenchymal Meningioma with YAP1-MAML2 Fusion in a Young Adult Male: A Case Report and Mini Literature Review

Alisa Nobee, Mei Xu, Anjali Seth, Yuan Rong

Int J Mol Sci. 2023 Aug; 24(16): 12814. Published online 2023 Aug 15. doi: 10.3390/ijms241612814

PMCID:: PMC10454436

Article PDF–2.1M

Select item 101103977.

Therapeutic targeting of vascular malformation in a zebrafish model of hereditary haemorrhagic telangiectasia

Ryan O. Snodgrass, Karan Govindpani, Karen Plant, Elisabeth C. Kugler, Changmin Doh, Thomas Dawson, Luis E. McCormack, Helen M. Arthur, Timothy J. A. Chico

Dis Model Mech. 2023 Apr 1; 16(4): dmm049567. Published online 2023 Mar 30. doi: 10.1242/dmm.049567

PMCID:: PMC10110397

Article

Select item 100879658.

Medical management of vascular anomalies of the head and neck

Christine Léauté‐Labrèze

J Oral Pathol Med. 2022 Nov; 51(10): 837–843. Published online 2022 Aug 4. doi: 10.1111/jop.13324

PMCID:: PMC10087965

Article PDF–847K

Select item 100480689.

Transcriptomic Studies on Intracranial Aneurysms

Rafal Morga, Joanna Pera

Genes (Basel) 2023 Mar; 14(3): 613. Published online 2023 Feb 28. doi: 10.3390/genes14030613

PMCID:: PMC10048068

Article PDF–567K

Select item 997365410.

Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation

Shantel Weinsheimer, Jeffrey Nelson, Adib A. Abla, Nerissa U. Ko, Cynthia Tsang, Obiora Okoye, Joseph M. Zabramski, Amy Akers, Atif Zafar, Marc C. Mabray, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim, The Brain Vascular Malformation Consortium Cerebral Cavernous Malformation Investigator Group

J Am Heart Assoc. 2023 Feb 7; 12(3): e027572. Published online 2023 Jan 25. doi: 10.1161/JAHA.122.027572

PMCID:: PMC9973654

Article PDF–684K

Select item 990874011.

BMP10 functions independently from BMP9 for the development of a proper arteriovenous network

Hyunwoo Choi, Bo-Gyeong Kim, Yong Hwan Kim, Se-Jin Lee, Young Jae Lee, S. Paul Oh

Angiogenesis. 2023; 26(1): 167–186. Published online 2022 Nov 8. doi: 10.1007/s10456-022-09859-0

PMCID:: PMC9908740

Article PDF–6.8M

Select item 974162812.

Mitochondrial dysfunction induces ALK5-SMAD2-mediated hypovascularization and arteriovenous malformations in mouse retinas

Haifeng Zhang, Busu Li, Qunhua Huang, Francesc López-Giráldez, Yoshiaki Tanaka, Qun Lin, Sameet Mehta, Guilin Wang, Morven Graham, Xinran Liu, In-Hyun Park, Anne Eichmann, Wang Min, Jenny Huanjiao Zhou

Nat Commun. 2022; 13: 7637. Published online 2022 Dec 10. doi: 10.1038/s41467-022-35262-w

PMCID:: PMC9741628

Article PDF–16M

Select item 963180313.

NRAS^Q61R mutation in human endothelial cells causes vascular malformations

Elisa Boscolo, Patricia Pastura, Sandra Schrenk, Jillian Goines, Rachael Kang, Devin Pillis, Punam Malik, Timothy D. Le Cras

Angiogenesis. Author manuscript; available in PMC 2022 Nov 3.

Published in final edited form as: Angiogenesis. 2022 Aug; 25(3): 331–342. Published online 2022 Apr 7. doi: 10.1007/s10456-022-09836-7

PMCID:: PMC9631803

Article PDF–2.0M

Select item 954206314.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

Alessandro Mussa, Antonella Turchiano, Simona Cardaropoli, Paola Coppo, Antonino Pantaleo, Rosanna Bagnulo, Carlotta Ranieri, Matteo Iacoviello, Antonella Garganese, Alessandro Stella, Stefano Gabriele Vallero, Daniele Bertin, Federica Santoro, Diana Carli, Giovanni Battista Ferrero, Nicoletta Resta

Genes Chromosomes Cancer. 2022 Nov; 61(11): 689–695. Published online 2022 Jul 16. doi: 10.1002/gcc.23086

PMCID:: PMC9542063

Article PDF–3.0M

Select item 926207115.

Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology

T. Abruzzo, R. van den Berg, S. Vadivelu, S.W. Hetts, M. Dishop, P. Cornejo, V. Narayanan, K.E. Ramsey, C. Coopwood, E.G. Medici-van den Herik, S.D. Roosendaal, M. Lawton, S. Bernes

AJNR Am J Neuroradiol. 2022 Jul; 43(7): 1060–1067. doi: 10.3174/ajnr.A7551

PMCID:: PMC9262071

Article PDF–2.6M

Select item 925634816.

lncRNA HOTAIR Inhibition by Regulating HMGB1/ROS/NF-κB Signal Pathway Promotes the Recovery of Spinal Cord Function

Zhe Wang, Ruchao Long, Zhihua Yang, Chunzhi Feng

Comput Math Methods Med. 2022; 2022: 4955982. Published online 2022 Jun 28. doi: 10.1155/2022/4955982

Retraction in:: Comput Math Methods Med. 2023; 2023: 9812476.

PMCID:: PMC9256348

Article

Select item 923989917.

Comprehensive circular RNA expression profiling with associated ceRNA network in orbital venous malformation

Jie Yu, Peiwei Chai, Yixiong Zhou, Renbing Jia, Yefei Wang

Mol Vis. 2022; 28: 83–95. Published online 2022 May 20.

PMCID:: PMC9239899

Article PDF–5.4M

Select item 918466318.

Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin

Salma Adham, Nicole Revencu, Sandrine Mestre, Monira Nou‐Howaldt, Hélène Vernhet‐Kovacsik, Isabelle Quéré

Mol Genet Genomic Med. 2022 Jun; 10(6): e1931. Published online 2022 Apr 15. doi: 10.1002/mgg3.1931

PMCID:: PMC9184663

Article PDF–736K

Select item 907792919.

Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach

Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis, Craig Johnson

Orphanet J Rare Dis. 2022; 17: 189. Published online 2022 May 7. doi: 10.1186/s13023-022-02338-1

PMCID:: PMC9077929

Article PDF–897K

Select item 893254520.

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

Gabriel Morin, Caroline Degrugillier-Chopinet, Marie Vincent, Antoine Fraissenon, Hélène Aubert, Célia Chapelle, Clément Hoguin, François Dubos, Benoit Catteau, Florence Petit, Aurélie Mezel, Olivia Domanski, Guillaume Herbreteau, Marie Alesandrini, Nathalie Boddaert, Nathalie Boutry, Christine Broissand, Tianxiang Kevin Han, Fabrice Branle, Sabine Sarnacki, Thomas Blanc, Laurent Guibaud, Guillaume Canaud

J Exp Med. 2022 Mar 7; 219(3): e20212148. Published online 2022 Jan 15. doi: 10.1084/jem.20212148

PMCID:: PMC8932545

Article PDF–3.1M

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