Literature DB >> 22211815

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

D R Bertola, A C Pereira, A C Brasil, L Suzuki, C Leite, R Falzoni, U Tannuri, A B Poplawski, K M Janowski, C A Kim, L M Messiaen.   

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Year:  2011        PMID： 22211815     DOI： 10.1111/j.1399-0004.2011.01764.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy.

Authors:  M Adelita Vizcaino; Allan Belzberg; Shivani Ahlawat; Sarra Belakhoua; Liam Chen; Verena Staedtke; Fausto J Rodriguez
Journal:  J Neuropathol Exp Neurol       Date:  2020-06-01       Impact factor: 3.685

2.  DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Authors:  Barbara Rivera; Javad Nadaf; Somayyeh Fahiminiya; Maria Apellaniz-Ruiz; Avi Saskin; Anne-Sophie Chong; Sahil Sharma; Rabea Wagener; Timothée Revil; Vincenzo Condello; Zineb Harra; Nancy Hamel; Nelly Sabbaghian; Karl Muchantef; Christian Thomas; Leanne de Kock; Marie-Noëlle Hébert-Blouin; Angelia V Bassenden; Hannah Rabenstein; Ozgur Mete; Ralf Paschke; Marc P Pusztaszeri; Werner Paulus; Albert Berghuis; Jiannis Ragoussis; Yuri E Nikiforov; Reiner Siebert; Steffen Albrecht; Robert Turcotte; Martin Hasselblatt; Marc R Fabian; William D Foulkes
Journal:  J Clin Invest       Date:  2020-03-02       Impact factor: 14.808

Review 3.  LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Authors:  Kirsten M Farncombe; Emily Thain; Carolina Barnett-Tapia; Hamid Sadeghian; Raymond H Kim
Journal:  BMC Med Genomics       Date:  2022-07-15       Impact factor: 3.622

Review 4.  Post-translational modification of RAS proteins.

Authors:  Sharon L Campbell; Mark R Philips
Journal:  Curr Opin Struct Biol       Date:  2021-08-06       Impact factor: 6.809

5.  Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Authors:  Said Farschtschi; Victor-Felix Mautner; Silke Hollants; Christian Hagel; Marijke Spaepen; Christoph Schulte; Eric Legius; Hilde Brems
Journal:  BMC Med Genet       Date:  2015-02-10       Impact factor: 2.103

6.  Identification of lysine methylation in the core GTPase domain by GoMADScan.

Authors:  Hirofumi Yoshino; Guowei Yin; Risa Kawaguchi; Konstantin I Popov; Brenda Temple; Mika Sasaki; Satoshi Kofuji; Kara Wolfe; Kaori Kofuji; Koichi Okumura; Jaskirat Randhawa; Akshiv Malhotra; Nazanin Majd; Yoshiki Ikeda; Hiroko Shimada; Emily Rose Kahoud; Sasson Haviv; Shigeki Iwase; John M Asara; Sharon L Campbell; Atsuo T Sasaki
Journal:  PLoS One       Date:  2019-08-07       Impact factor: 3.240

7.  A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Authors:  Yoshihito Ando; Mikio Sawada; Tadataka Kawakami; Mitsuya Morita; Yoko Aoki
Journal:  Case Rep Neurol       Date:  2021-02-16
  7 in total

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