Literature DB >> 33273196

Vascular Malformations: Current Progress Toward Drug Therapy.

Arin K Greene1, Christopher L Sudduth.   

Abstract

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Year:  2021        PMID: 33273196      PMCID: PMC8175078          DOI: 10.1097/SCS.0000000000007310

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


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  49 in total

1.  A somatic MAP3K3 mutation is associated with verrucous venous malformation.

Authors:  Javier A Couto; Matthew P Vivero; Harry P W Kozakewich; Amir H Taghinia; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2015-02-26       Impact factor: 11.025

2.  Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Authors:  Javier A Couto; August Y Huang; Dennis J Konczyk; Jeremy A Goss; Steven J Fishman; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2017-02-09       Impact factor: 11.025

3.  Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child.

Authors:  Ramrada Lekwuttikarn; Young H Lim; Shehla Admani; Keith A Choate; Joyce M C Teng
Journal:  JAMA Dermatol       Date:  2019-02-01       Impact factor: 10.282

4.  Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.

Authors:  M Vikkula; L M Boon; K L Carraway; J T Calvert; A J Diamonti; B Goumnerov; K A Pasyk; D A Marchuk; M L Warman; L C Cantley; J B Mulliken; B R Olsen
Journal:  Cell       Date:  1996-12-27       Impact factor: 41.582

5.  Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis.

Authors:  Javier A Couto; Dennis J Konczyk; Matthew P Vivero; Harry P W Kozakewich; Joseph Upton; Xi Fu; Bonnie L Padwa; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Pediatr Res       Date:  2017-08-02       Impact factor: 3.756

6.  Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.

Authors:  Elisa Boscolo; Nisha Limaye; Lan Huang; Kyu-Tae Kang; Julie Soblet; Melanie Uebelhoer; Antonella Mendola; Marjut Natynki; Emmanuel Seront; Sophie Dupont; Jennifer Hammer; Catherine Legrand; Carlo Brugnara; Lauri Eklund; Miikka Vikkula; Joyce Bischoff; Laurence M Boon
Journal:  J Clin Invest       Date:  2015-08-10       Impact factor: 14.808

7.  Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

Authors:  K A McAllister; K M Grogg; D W Johnson; C J Gallione; M A Baldwin; C E Jackson; E A Helmbold; D S Markel; W C McKinnon; J Murrell
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

8.  Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Authors:  Victoria E R Parker; Kim M Keppler-Noreuil; Laurence Faivre; Pierre Vabres; Robert K Semple; Leslie G Biesecker; Maxime Luu; Neal L Oden; Leena De Silva; Julie C Sapp; Katrina Andrews; Marc Bardou; Kong Y Chen; Thomas N Darling; Elodie Gautier; Barry R Goldspiel; Smail Hadj-Rabia; Julie Harris; Georgios Kounidas; Parag Kumar; Marjorie J Lindhurst; Romaric Loffroy; Ludovic Martin; Alice Phan; Kristina I Rother; Brigitte C Widemann; Pamela L Wolters; Christine Coubes; Lucile Pinson; Marjolaine Willems; Catherine Vincent-Delorme
Journal:  Genet Med       Date:  2018-10-01       Impact factor: 8.822

9.  Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

Authors:  Valerie L Luks; Nolan Kamitaki; Matthew P Vivero; Wibke Uller; Rashed Rab; Judith V M G Bovée; Kristy L Rialon; Carlos J Guevara; Ahmad I Alomari; Arin K Greene; Steven J Fishman; Harry P W Kozakewich; Reid A Maclellan; John B Mulliken; Reza Rahbar; Samantha A Spencer; Cameron C Trenor; Joseph Upton; David Zurakowski; Jonathan A Perkins; Andrew Kirsh; James T Bennett; William B Dobyns; Kyle C Kurek; Matthew L Warman; Steven A McCarroll; Rudy Murillo
Journal:  J Pediatr       Date:  2015-02-11       Impact factor: 4.406

10.  Somatic mutations in intracranial arteriovenous malformations.

Authors:  Jeremy A Goss; August Y Huang; Edward Smith; Dennis J Konczyk; Patrick J Smits; Christopher L Sudduth; Christopher Stapleton; Aman Patel; Sanda Alexandrescu; Matthew L Warman; Arin K Greene
Journal:  PLoS One       Date:  2019-12-31       Impact factor: 3.240

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