Literature DB >> 15024694

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Claus Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R Frank Kooy, Herbert A Lubs, Roger E Stevenson, Juliane Ramser, Charles E Schwartz.   

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Year:  2004        PMID： 15024694      PMCID： PMC1181956          DOI： 10.1086/383205

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  19 in total

Review 1.  Functions of WW domains in the nucleus.

Authors:  M Sudol; K Sliwa; T Russo
Journal:  FEBS Lett       Date:  2001-02-16       Impact factor: 4.124

Review 2.  Splitting and lumping in the nosology of XLMR.

Authors:  R E Stevenson
Journal:  Am J Med Genet       Date:  2000

3.  PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival.

Authors:  M Waragai; C H Lammers; S Takeuchi; I Imafuku; Y Udagawa; I Kanazawa; M Kawabata; M M Mouradian; H Okazawa
Journal:  Hum Mol Genet       Date:  1999-06       Impact factor: 6.150

Review 4.  Clinical and molecular contributions to the understanding of X-linked mental retardation.

Authors:  R E Stevenson; C E Schwartz
Journal:  Cytogenet Genome Res       Date:  2002       Impact factor: 1.636

5.  Familial sex-linked mental retardation.

Authors:  H RENPENNING; J W GERRARD; W A ZALESKI; T TABATA
Journal:  Can Med Assoc J       Date:  1962-11-03       Impact factor: 8.262

6.  Renpenning syndrome maps to Xp11.

Authors:  R E Stevenson; J F Arena; E Ouzts; A Gibson; M H Shokeir; C Vnencak-Jones; H A Lubs; M May; C E Schwartz
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

7.  Letter: Sex-linked mental retardation.

Authors:  J W Gerrard; H J Renpenning
Journal:  Lancet       Date:  1974-06-29       Impact factor: 79.321

8.  Letter: Renpenning's syndrome.

Authors:  M W Steele; A L Chorazy
Journal:  Lancet       Date:  1974-04-20       Impact factor: 79.321

9.  Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

Authors:  M Jennings; J G Hall; H Hoehn
Journal:  Am J Med Genet       Date:  1980

10.  Genetic syndromes among individuals with mental retardation.

Authors:  Roger E Stevenson; Ashley M Procopio-Allen; Richard J Schroer; Julianne S Collins
Journal:  Am J Med Genet A       Date:  2003-11-15       Impact factor: 2.802
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  17 in total

Review 1.  X linked mental retardation: a clinical guide.

Authors:  F L Raymond
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

2.  PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.

Authors:  Janna Seifried; Stephen Soonthornvacharin; Sunnie M Yoh; Monika Schneider; Rana E Akleh; Kevin C Olivieri; Paul D De Jesus; Chunhai Ruan; Elisa de Castro; Pedro A Ruiz; David Germanaud; Vincent des Portes; Adolfo García-Sastre; Renate König; Sumit K Chanda
Journal:  Cell       Date:  2015-06-04       Impact factor: 41.582

3.  Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

Authors:  David R Murdock; Hongzheng Dai; Lindsay C Burrage; Jill A Rosenfeld; Shamika Ketkar; Michaela F Müller; Vicente A Yépez; Julien Gagneur; Pengfei Liu; Shan Chen; Mahim Jain; Gladys Zapata; Carlos A Bacino; Hsiao-Tuan Chao; Paolo Moretti; William J Craigen; Neil A Hanchard; Brendan Lee
Journal:  J Clin Invest       Date:  2021-01-04       Impact factor: 14.808

4.  Solution model of the intrinsically disordered polyglutamine tract-binding protein-1.

Authors:  Martin Rees; Christian Gorba; Cesira de Chiara; Tam T T Bui; Mitla Garcia-Maya; Alex F Drake; Hitoshi Okazawa; Annalisa Pastore; Dmitri Svergun; Yu Wai Chen
Journal:  Biophys J       Date:  2012-04-03       Impact factor: 4.033

5.  Drosophila PQBP1 regulates learning acquisition at projection neurons in aversive olfactory conditioning.

Authors:  Takuya Tamura; Daisuke Horiuchi; Yi-Chung Chen; Masaki Sone; Tomoyuki Miyashita; Minoru Saitoe; Natsue Yoshimura; Ann-Shyn Chiang; Hitoshi Okazawa
Journal:  J Neurosci       Date:  2010-10-20       Impact factor: 6.167

Review 6.  Fragile X and X-linked intellectual disability: four decades of discovery.

Authors:  Herbert A Lubs; Roger E Stevenson; Charles E Schwartz
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

7.  Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

Authors:  H Lubs; F E Abidi; R Echeverri; L Holloway; A Meindl; R E Stevenson; C E Schwartz
Journal:  J Med Genet       Date:  2006-06       Impact factor: 6.318

Review 8.  Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.

Authors:  Carlos Bessa; Patrícia Maciel; Ana João Rodrigues
Journal:  Mol Neurobiol       Date:  2013-03-14       Impact factor: 5.590

9.  Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Authors:  Roberto Giorda; M Clara Bonaglia; Silvana Beri; Marco Fichera; Francesca Novara; Pamela Magini; Jill Urquhart; Freddie H Sharkey; Claudio Zucca; Rita Grasso; Susan Marelli; Lucia Castiglia; Daniela Di Benedetto; Sebastiano A Musumeci; Girolamo A Vitello; Pinella Failla; Santina Reitano; Emanuela Avola; Francesca Bisulli; Paolo Tinuper; Massimo Mastrangelo; Isabella Fiocchi; Luigina Spaccini; Claudia Torniero; Elena Fontana; Sally Ann Lynch; Jill Clayton-Smith; Graeme Black; Philippe Jonveaux; Bruno Leheup; Marco Seri; Corrado Romano; Bernardo dalla Bernardina; Orsetta Zuffardi
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

10.  The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling.

Authors:  Yasuno Iwasaki; Gerald H Thomsen
Journal:  Development       Date:  2014-09-10       Impact factor: 6.868
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