Literature DB >> 12807966

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

N Philip, B Chabrol, A-M Lossi, C Cardoso, R Guerrini, W B Dobyns, C Raybaud, L Villard.   

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Year:  2003        PMID： 12807966      PMCID： PMC1735502          DOI： 10.1136/jmg.40.6.441

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  37 in total

Review 1.  Novel approaches to studying the genetic basis of cerebellar development.

Authors:  Samin A Sajan; Kathryn E Waimey; Kathleen J Millen
Journal:  Cerebellum       Date:  2010-09       Impact factor: 3.847

Review 2.  X linked mental retardation: a clinical guide.

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

Review 3.  Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation.

Authors:  Céline Fogliarini; Katia Chaumoitre; Frédérique Chapon; Carla Fernandez; Olivier Lévrier; Dominique Figarella-Branger; Nadine Girard
Journal:  Eur Radiol       Date:  2005-04-21       Impact factor: 5.315

Review 4.  Rho-linked genes and neurological disorders.

Authors:  Nael Nadif Kasri; Linda Van Aelst
Journal:  Pflugers Arch       Date:  2007-11-15       Impact factor: 3.657

5.  Rapid synthesis of the X-linked mental retardation protein OPHN1 mediates mGluR-dependent LTD through interaction with the endocytic machinery.

Authors:  Nael Nadif Kasri; Akiko Nakano-Kobayashi; Linda Van Aelst
Journal:  Neuron       Date:  2011-10-20       Impact factor: 17.173

Review 6.  The genetics of cerebellar malformations.

Authors:  Kimberly A Aldinger; Dan Doherty
Journal:  Semin Fetal Neonatal Med       Date:  2016-05-07       Impact factor: 3.926

7.  Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Authors:  Claudia Compagnucci; Sabina Barresi; Stefania Petrini; Pierre Billuart; Giorgia Piccini; Pietro Chiurazzi; Paolo Alfieri; Enrico Bertini; Ginevra Zanni
Journal:  Stem Cells Transl Med       Date:  2016-05-09       Impact factor: 6.940

Review 8.  Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.

Authors:  Kimberly A Aldinger; Gina E Elsen; Victoria E Prince; Kathleen J Millen
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

9.  Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway.

Authors:  Malik Khelfaoui; Frédéric Gambino; Xander Houbaert; Bruno Ragazzon; Christian Müller; Mario Carta; Frédéric Lanore; Bettadapura N Srikumar; Philippe Gastrein; Marilyn Lepleux; Chun-Lei Zhang; Marie Kneib; Bernard Poulain; Sophie Reibel-Foisset; Nicolas Vitale; Jamel Chelly; Pierre Billuart; Andreas Lüthi; Yann Humeau
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2013-12-02       Impact factor: 6.237

10.  Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.

Authors:  Malik Khelfaoui; Alice Pavlowsky; Andrew D Powell; Pamela Valnegri; Kenneth W Cheong; Yann Blandin; Maria Passafaro; John G R Jefferys; Jamel Chelly; Pierre Billuart
Journal:  Hum Mol Genet       Date:  2009-04-28       Impact factor: 6.150
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