Literature DB >> 34821987

DGCR8 and the six hit, three-step model of schwannomatosis.

Clara Nogué1, Anne-Sophie Chong2,3, Elia Grau1,4, HyeRim Han1, Eduard Dorca5, Carla Roca1, Jose Luis Mosquera1, Conxi Lázaro1,4,6, William D Foulkes2,3,7, Joan Brunet4,6,8, Barbara Rivera9,10,11,12.   

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Year:  2021        PMID： 34821987     DOI： 10.1007/s00401-021-02387-z

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  8 in total

1.  Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Authors:  Leanne de Kock; Barbara Rivera; William D Foulkes
Journal:  Acta Neuropathol       Date:  2020-03-02       Impact factor: 17.088

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

3.  Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Authors:  Theo J M Hulsebos; Astrid S Plomp; Ruud A Wolterman; Els C Robanus-Maandag; Frank Baas; Pieter Wesseling
Journal:  Am J Hum Genet       Date:  2007-02-16       Impact factor: 11.025

4.  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Authors:  Arkadiusz Piotrowski; Jing Xie; Ying F Liu; Andrzej B Poplawski; Alicia R Gomes; Piotr Madanecki; Chuanhua Fu; Michael R Crowley; David K Crossman; Linlea Armstrong; Dusica Babovic-Vuksanovic; Amanda Bergner; Jaishri O Blakeley; Andrea L Blumenthal; Molly S Daniels; Howard Feit; Kathy Gardner; Stephanie Hurst; Christine Kobelka; Chung Lee; Rebecca Nagy; Katherine A Rauen; John M Slopis; Pim Suwannarat; Judith A Westman; Andrea Zanko; Bruce R Korf; Ludwine M Messiaen
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330

5.  BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours.

Authors:  César Serrano; Sara Simonetti; Javier Hernández-Losa; Claudia Valverde; Cristina Carrato; Silvia Bagué; Ruth Orellana; Rosa Somoza; Teresa Moliné; Joan Carles; Pere Huguet; Cleofé Romagosa; Santiago Ramón y Cajal
Journal:  Histopathology       Date:  2012-11-27       Impact factor: 5.087

Review 6.  The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Authors:  Hildegard Kehrer-Sawatzki; Said Farschtschi; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2016-12-05       Impact factor: 4.132

7.  Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Authors:  Sheila Mansouri; Suganth Suppiah; Yasin Mamatjan; Irene Paganini; Jeffrey C Liu; Shirin Karimi; Vikas Patil; Farshad Nassiri; Olivia Singh; Yogi Sundaravadanam; Prisni Rath; Roberta Sestini; Francesca Gensini; Sameer Agnihotri; Jaishri Blakeley; Kimberly Ostrow; David Largaespada; Scott R Plotkin; Anat Stemmer-Rachamimov; Marcela Maria Ferrer; Trevor J Pugh; Kenneth D Aldape; Laura Papi; Gelareh Zadeh
Journal:  Acta Neuropathol       Date:  2020-10-06       Impact factor: 17.088

8.  Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.

Authors:  D Gareth Evans; Ludwine M Messiaen; William D Foulkes; Rachel E A Irving; Alexandra J Murray; Cristina Perez-Becerril; Barbara Rivera; Donna M McDonald-McGinn; David A Stevenson; Miriam J Smith
Journal:  Genet Med       Date:  2021-04-20       Impact factor: 8.822
  8 in total
  1 in total

1.  Screening of potential novel candidate genes in schwannomatosis patients.

Authors:  Cristina Perez-Becerril; Andrew J Wallace; Helene Schlecht; Naomi L Bowers; Philip T Smith; Carolyn Gokhale; Helen Eaton; Chris Charlton; Rachel Robinson; Ruth S Charlton; D Gareth Evans; Miriam J Smith
Journal:  Hum Mutat       Date:  2022-06-27       Impact factor: 4.700
  1 in total

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