Literature DB >> 21567917

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.

A Chiocchetti1, G Pakalapati, E Duketis, S Wiemann, A Poustka, F Poustka, S M Klauck.   

Abstract

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Year:  2011        PMID： 21567917     DOI： 10.1002/ajmg.a.33977

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  19 in total

1.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Authors:  Amélie Piton; Claire Redin; Jean-Louis Mandel
Journal:  Am J Hum Genet       Date:  2013-07-18       Impact factor: 11.025

Review 2.  Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications.

Authors:  Wei Wang; Subhasree Nag; Xu Zhang; Ming-Hai Wang; Hui Wang; Jianwei Zhou; Ruiwen Zhang
Journal:  Med Res Rev       Date:  2014-08-28       Impact factor: 12.944

3.  A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Authors:  Susan S Brooks; Alissa L Wall; Christelle Golzio; David W Reid; Amalia Kondyles; Jason R Willer; Christina Botti; Christopher V Nicchitta; Nicholas Katsanis; Erica E Davis
Journal:  Genetics       Date:  2014-10       Impact factor: 4.562

4.  EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Authors:  Martina Skopkova; Friederike Hennig; Byung-Sik Shin; Clesson E Turner; Daniela Stanikova; Katarina Brennerova; Juraj Stanik; Ute Fischer; Lyndal Henden; Ulrich Müller; Daniela Steinberger; Esther Leshinsky-Silver; Armand Bottani; Timea Kurdiova; Jozef Ukropec; Olga Nyitrayova; Miriam Kolnikova; Iwar Klimes; Guntram Borck; Melanie Bahlo; Stefan A Haas; Joo-Ran Kim; Leda E Lotspeich-Cole; Daniela Gasperikova; Thomas E Dever; Vera M Kalscheuer
Journal:  Hum Mutat       Date:  2017-01-23       Impact factor: 4.878

5.  The chromatin regulator Brpf1 regulates embryo development and cell proliferation.

Authors:  Linya You; Kezhi Yan; Jinfeng Zou; Hong Zhao; Nicholas R Bertos; Morag Park; Edwin Wang; Xiang-Jiao Yang
Journal:  J Biol Chem       Date:  2015-03-15       Impact factor: 5.157

Review 6.  Ribosomopathies: Old Concepts, New Controversies.

Authors:  Katherine I Farley-Barnes; Lisa M Ogawa; Susan J Baserga
Journal:  Trends Genet       Date:  2019-07-31       Impact factor: 11.639

7.  Selected rapporteur summaries from the XX World Congress of Psychiatric Genetics, Hamburg, Germany, October 14-18, 2012.

Authors:  Heike Anderson-Schmidt; Olga Beltcheva; Mariko D Brandon; Enda M Byrne; Eric J Diehl; Laramie Duncan; Suzanne D Gonzalez; Eilis Hannon; Katri Kantojärvi; Iordanis Karagiannidis; Mark Z Kos; Eszter Kotyuk; Benjamin I Laufer; Katarzyna Mantha; Nathaniel W McGregor; Sandra Meier; Vanessa Nieratschker; Helen Spiers; Alessio Squassina; Geeta A Thakur; Yash Tiwari; Biju Viswanath; Michael J Way; Cybele C P Wong; Anne O'Shea; Lynn E DeLisi
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2013-01-22       Impact factor: 3.568

8.  Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.

Authors:  Kim De Keersmaecker; Zeynep Kalender Atak; Ning Li; Carmen Vicente; Stephanie Patchett; Tiziana Girardi; Valentina Gianfelici; Ellen Geerdens; Emmanuelle Clappier; Michaël Porcu; Idoya Lahortiga; Rossella Lucà; Jiekun Yan; Gert Hulselmans; Hilde Vranckx; Roel Vandepoel; Bram Sweron; Kris Jacobs; Nicole Mentens; Iwona Wlodarska; Barbara Cauwelier; Jacqueline Cloos; Jean Soulier; Anne Uyttebroeck; Claudia Bagni; Bassem A Hassan; Peter Vandenberghe; Arlen W Johnson; Stein Aerts; Jan Cools
Journal:  Nat Genet       Date:  2012-12-23       Impact factor: 38.330

9.  Common X-Chromosome Variants Are Associated with Parkinson Disease Risk.

Authors:  Yann Le Guen; Valerio Napolioni; Michael E Belloy; Eric Yu; Lynne Krohn; Jennifer A Ruskey; Ziv Gan-Or; Gabriel Kennedy; Sarah J Eger; Michael D Greicius
Journal:  Ann Neurol       Date:  2021-03-06       Impact factor: 11.274

Review 10.  Ribosome heterogeneity and specialization in development.

Authors:  Karl Norris; Tayah Hopes; Julie Louise Aspden
Journal:  Wiley Interdiscip Rev RNA       Date:  2021-02-09       Impact factor: 9.349
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