Literature DB >> 26498739

Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi.

Satomi Igawa1, Masaru Honma1, Masako Minami-Hori1, Etsushi Tsuchida2, Hajime Iizuka1, Akemi Ishida-Yamamoto1.   

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Year:  2015        PMID： 26498739     DOI： 10.1111/1346-8138.13153

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  5 in total

1.  Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Authors:  Michael P Whyte; Malachi Griffith; Lee Trani; Steven Mumm; Gary S Gottesman; William H McAlister; Kilannin Krysiak; Robert Lesurf; Zachary L Skidmore; Katie M Campbell; Ilana S Rosman; Susan Bayliss; Vinieth N Bijanki; Angela Nenninger; Brian A Van Tine; Obi L Griffith; Elaine R Mardis
Journal:  Bone       Date:  2017-04-21       Impact factor: 4.398

2.  Picosecond 532-nm neodymium-doped yttrium aluminum garnet laser-a promising modality for the management of verrucous epidermal nevi.

Authors:  Assi Levi; Dan Ben Amitai; Daniel Mimouni; Yael A Leshem; Ofir Arzi; Moshe Lapidoth
Journal:  Lasers Med Sci       Date:  2018-01-03       Impact factor: 3.161

3.  Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Authors:  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
Journal:  J Clin Invest       Date:  2018-03-12       Impact factor: 14.808

4.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

5.  Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Authors:  Anthony J Penington; Ingrid E Scheffer; Michael S Hildebrand; Timothy E Green; Duncan MacGregor; Susan M Carden; Rebekah V Harris; Chelsee A Hewitt; Samuel F Berkovic
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  5 in total

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