Literature DB >> 24129065

Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.

Jonathan L Levinsohn1, Joyce Teng2, Brittany G Craiglow1, Erin C Loring3, T Andrew Burrow4, Shrikant S Mane5, John D Overton5, Richard P Lifton6, Jennifer M McNiff7, Anne W Lucky8, Keith A Choate9.   

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Year:  2013        PMID： 24129065      PMCID： PMC3961553          DOI： 10.1038/jid.2013.430

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   7.590


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  15 in total

1.  Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Authors:  Leopold Groesser; Eva Herschberger; Arno Ruetten; Claudia Ruivenkamp; Enrico Lopriore; Markus Zutt; Thomas Langmann; Sebastian Singer; Laura Klingseisen; Wulf Schneider-Brachert; Agusti Toll; Francisco X Real; Michael Landthaler; Christian Hafner
Journal:  Nat Genet       Date:  2012-06-10       Impact factor: 38.330

2.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

3.  Woolly-hair nevus: report of a case associated with a verrucous epidermal nevus in the same area.

Authors:  C Peteiro; N P Oliva; A Zulaica; J Toribio
Journal:  Pediatr Dermatol       Date:  1989-09       Impact factor: 1.588

4.  A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Authors:  Marjorie J Lindhurst; Julie C Sapp; Jamie K Teer; Jennifer J Johnston; Erin M Finn; Kathryn Peters; Joyce Turner; Jennifer L Cannons; David Bick; Laurel Blakemore; Catherine Blumhorst; Knut Brockmann; Peter Calder; Natasha Cherman; Matthew A Deardorff; David B Everman; Gretchen Golas; Robert M Greenstein; B Maya Kato; Kim M Keppler-Noreuil; Sergei A Kuznetsov; Richard T Miyamoto; Kurt Newman; David Ng; Kevin O'Brien; Steven Rothenberg; Douglas J Schwartzentruber; Virender Singhal; Roberto Tirabosco; Joseph Upton; Shlomo Wientroub; Elaine H Zackai; Kimberly Hoag; Tracey Whitewood-Neal; Pamela G Robey; Pamela L Schwartzberg; Thomas N Darling; Laura L Tosi; James C Mullikin; Leslie G Biesecker
Journal:  N Engl J Med       Date:  2011-07-27       Impact factor: 91.245

5.  Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Authors:  Christian Hafner; Agusti Toll; Susanne Gantner; Andreas Mauerer; Irene Lurkin; Francesco Acquadro; Alejandro Fernández-Casado; Ellen C Zwarthoff; Wolfgang Dietmaier; Eulalia Baselga; Elisabet Parera; Asunción Vicente; Ariel Casanova; Juan Cigudosa; Thomas Mentzel; Ramon M Pujol; Michael Landthaler; Francisco X Real
Journal:  J Med Genet       Date:  2012-04       Impact factor: 6.318

6.  Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

Authors:  D H Siegel; J A Mann; A L Krol; K A Rauen
Journal:  Br J Dermatol       Date:  2012-03       Impact factor: 9.302

7.  Epidermal mosaicism and Blaschko's lines.

Authors:  C Moss; S Larkins; M Stacey; A Blight; P A Farndon; E V Davison
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 8.  Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Authors:  Karen W Gripp; Angela E Lin
Journal:  Genet Med       Date:  2012-03       Impact factor: 8.822

9.  Woolly hair nevus: a rare entity.

Authors:  V Venugopal; Subashini Karthikeyan; Pushpa Gnanaraj; Murali Narasimhan
Journal:  Int J Trichology       Date:  2012-01

10.  Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome.

Authors:  Bryan K Sun; Andrea Saggini; Kavita Y Sarin; Jinah Kim; Latanya Benjamin; Philip E LeBoit; Paul A Khavari
Journal:  J Invest Dermatol       Date:  2012-10-25       Impact factor: 8.551
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  9 in total

Review 1.  The duality of human oncoproteins: drivers of cancer and congenital disorders.

Authors:  Pau Castel; Katherine A Rauen; Frank McCormick
Journal:  Nat Rev Cancer       Date:  2020-04-27       Impact factor: 60.716

Review 2.  [Genetic basis of seborrheic keratosis and epidermal nevi].

Authors:  C Hafner; H Hafner; L Groesser
Journal:  Pathologe       Date:  2014-09       Impact factor: 1.011

3.  Somatic Mosaicism in Blaschkolinear Inflammatory Disorders.

Authors:  Nicholas Theodosakis; Lauren Levy; Shawn Cowper; Rossitza Lazova; Lisa Kugelman; Amanda Zubek; Keith Choate
Journal:  J Clin Exp Dermatol Res       Date:  2016-06-05

4.  Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.

Authors:  Deeti J Pithadia; John W Roman; Julie C Sapp; Leslie G Biesecker; Thomas N Darling
Journal:  J Am Acad Dermatol       Date:  2020-02-07       Impact factor: 11.527

5.  A Rare Presentation and Histopathologic Findings of Woolly Hair Nevus.

Authors:  Laura Miguel Gomez; Lorea Bagazgotia; Luis Requena
Journal:  Int J Trichology       Date:  2015 Jul-Sep

Review 6.  New insights into the generation and role of de novo mutations in health and disease.

Authors:  Rocio Acuna-Hidalgo; Joris A Veltman; Alexander Hoischen
Journal:  Genome Biol       Date:  2016-11-28       Impact factor: 13.583

7.  Clinical spectrum of woolly hair: indications for cerebral involvement.

Authors:  Piero Pavone; Raffaele Falsaperla; Massimo Barbagallo; Agata Polizzi; Andrea D Praticò; Martino Ruggieri
Journal:  Ital J Pediatr       Date:  2017-11-02       Impact factor: 2.638

8.  A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.

Authors:  Katsuhiko Nishihara; Mikiko Tohyama; Akiharu Kubo
Journal:  Pediatr Dermatol       Date:  2019-03-12       Impact factor: 1.588

9.  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
  9 in total

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