Literature DB >> 30382944

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.   

Abstract

Entities:  

Year:  2018        PMID： 30382944      PMCID： PMC6205386          DOI： 10.1172/JCI124649

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  10 in total

1.  Elevated endothelial Sox2 causes lumen disruption and cerebral arteriovenous malformations.

Authors:  Jiayi Yao; Xiuju Wu; Daoqin Zhang; Lumin Wang; Li Zhang; Eric X Reynolds; Carlos Hernandez; Kristina I Boström; Yucheng Yao
Journal:  J Clin Invest       Date:  2019-06-24       Impact factor: 14.808

2.  From FOS fusions to somatic mutations in the MAPK pathway, heterogeneous genetic abnormalities cause distinct pathophysiology among subsets of epithelioid haemangiomas.

Authors:  W Tan; J S Nelson
Journal:  Br J Dermatol       Date:  2022-03-01       Impact factor: 11.113

3.  Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance.

Authors:  Yuting Lu; E Elizabeth Patton
Journal:  Dis Model Mech       Date:  2022-05-09       Impact factor: 5.732

4.  Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.

Authors:  Roel W Ten Broek; Astrid Eijkelenboom; Carine J M van der Vleuten; Eveline J Kamping; Marleen Kets; Bas H Verhoeven; Katrien Grünberg; Leo J Schultze Kool; Bastiaan B J Tops; Marjolijn J L Ligtenberg; Uta Flucke
Journal:  Genes Chromosomes Cancer       Date:  2019-02-11       Impact factor: 5.006

Review 5.  Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention.

Authors:  Shayan Cheraghlou; Young Lim; Keith Choate
Journal:  F1000Res       Date:  2019-04-30

Review 6.  Molecular basis for pericyte-induced capillary tube network assembly and maturation.

Authors:  Scott S Kemp; Prisca K Lin; Zheying Sun; Maria A Castaño; Ksenia Yrigoin; Marlena R Penn; George E Davis
Journal:  Front Cell Dev Biol       Date:  2022-08-22

Review 7.  A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Authors:  Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Journal:  Orphanet J Rare Dis       Date:  2021-07-08       Impact factor: 4.123

Review 8.  Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Authors:  V Dunnett-Kane; E Burkitt-Wright; F H Blackhall; A Malliri; D G Evans; C R Lindsay
Journal:  Ann Oncol       Date:  2020-03-30       Impact factor: 32.976

Review 9.  Challenges in Treating Genodermatoses: New Therapies at the Horizon.

Authors:  Marie-Anne Morren; Eric Legius; Fabienne Giuliano; Smail Hadj-Rabia; Daniel Hohl; Christine Bodemer
Journal:  Front Pharmacol       Date:  2022-01-05       Impact factor: 5.810

10.  Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.

Authors:  Melissa Riachi; Satyamaanasa Polubothu; Paulina Stadnik; Connor Hughes; Sara Barberan Martin; Carolyn R Charman; Iek Leng Cheng; Karolina Gholam; Olumide Ogunbiyi; David G Paige; Neil J Sebire; Alan Pittman; Wei-Li Di; Veronica A Kinsler
Journal:  J Invest Dermatol       Date:  2021-06-08       Impact factor: 8.551
  10 in total

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