Literature DB >> 21318334

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

Nils Rademacher, Melanie Hambrock, Ute Fischer, Bettina Moser, Berten Ceulemans, Wolfgang Lieb, Rainer Boor, Irina Stefanova, Gabriele Gillessen-Kaesbach, Charlotte Runge, Georg Christoph Korenke, Stefanie Spranger, Franco Laccone, Andreas Tzschach, Vera M Kalscheuer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21318334     DOI： 10.1007/s10048-011-0277-6

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


× No keyword cloud information.
  6 in total

1.  An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Authors:  Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Jamel Chelly; Thierry Bienvenu
Journal:  J Hum Genet       Date:  2010-12-02       Impact factor: 3.172

2.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Authors:  Linda S Weaving; John Christodoulou; Sarah L Williamson; Kathie L Friend; Olivia L D McKenzie; Hayley Archer; Julie Evans; Angus Clarke; Gregory J Pelka; Patrick P L Tam; Catherine Watson; Hooshang Lahooti; Carolyn J Ellaway; Bruce Bennetts; Helen Leonard; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

3.  Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

Authors:  Jiong Tao; Hilde Van Esch; M Hagedorn-Greiwe; Kirsten Hoffmann; Bettina Moser; Martine Raynaud; Jürgen Sperner; Jean-Pierre Fryns; Eberhard Schwinger; Jozef Gécz; Hans-Hilger Ropers; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2004-12       Impact factor: 11.025

4.  Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Authors:  Isabella Borg; Kristine Freude; Sabine Kübart; Kirsten Hoffmann; Corinna Menzel; Franco Laccone; Helen Firth; Malcolm A Ferguson-Smith; Niels Tommerup; Hans-Hilger Ropers; David Sargan; Vera M Kalscheuer
Journal:  Eur J Hum Genet       Date:  2005-08       Impact factor: 4.246

5.  Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Authors:  Vera M Kalscheuer; Jiong Tao; Andrew Donnelly; Georgina Hollway; Eberhard Schwinger; Sabine Kübart; Corinna Menzel; Maria Hoeltzenbein; Niels Tommerup; Helen Eyre; Michael Harbord; Eric Haan; Grant R Sutherland; Hans-Hilger Ropers; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2003-05-07       Impact factor: 11.025

6.  CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Authors:  Sara Ricciardi; Charlotte Kilstrup-Nielsen; Thierry Bienvenu; Aurélia Jacquette; Nicoletta Landsberger; Vania Broccoli
Journal:  Hum Mol Genet       Date:  2009-09-09       Impact factor: 6.150
  6 in total
  18 in total

Review 1.  Genetic variation in the epigenetic machinery and mental health.

Authors:  Chris Murgatroyd; Dietmar Spengler
Journal:  Curr Psychiatry Rep       Date:  2012-04       Impact factor: 5.285

2.  The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Authors:  Stephanie Fehr; Meredith Wilson; Jenny Downs; Simon Williams; Alessandra Murgia; Stefano Sartori; Marilena Vecchi; Gladys Ho; Roberta Polli; Stavroula Psoni; Xinhua Bao; Nick de Klerk; Helen Leonard; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2012-08-08       Impact factor: 4.246

3.  Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Authors:  Przemyslaw Szafranski; Sailaja Golla; Weihong Jin; Ping Fang; Patricia Hixson; Reuben Matalon; Daniel Kinney; Hans-Georg Bock; William Craigen; Janice L Smith; Weimin Bi; Ankita Patel; Sau Wai Cheung; Carlos A Bacino; Paweł Stankiewicz
Journal:  Eur J Hum Genet       Date:  2014-10-15       Impact factor: 4.246

Review 4.  Modeling neurodevelopmental disorders using human neurons.

Authors:  Thanathom Chailangkarn; Allan Acab; Alysson Renato Muotri
Journal:  Curr Opin Neurobiol       Date:  2012-06-19       Impact factor: 6.627

5.  CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Authors:  N Bahi-Buisson; T Bienvenu
Journal:  Mol Syndromol       Date:  2011-09-13

6.  Mutations in the C-terminus of CDKL5: proceed with caution.

Authors:  Bertrand Diebold; Chloé Delépine; Svetlana Gataullina; Andrée Delahaye; Juliette Nectoux; Thierry Bienvenu
Journal:  Eur J Hum Genet       Date:  2013-06-12       Impact factor: 4.246

Review 7.  What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

Authors:  Charlotte Kilstrup-Nielsen; Laura Rusconi; Paolo La Montanara; Dalila Ciceri; Anna Bergo; Francesco Bedogni; Nicoletta Landsberger
Journal:  Neural Plast       Date:  2012-06-17       Impact factor: 3.599

8.  CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas.

Authors:  Lai-Wa Tam; Paul T Ranum; Paul A Lefebvre
Journal:  Mol Biol Cell       Date:  2013-01-02       Impact factor: 4.138

9.  CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Authors:  Hiart Maortua; Cristina Martínez-Bouzas; María-Teresa Calvo; Maria-Rosario Domingo; Feliciano Ramos; Ainhoa García-Ribes; María-Jesús Martínez; María-Asunción López-Aríztegui; Nerea Puente; Izaskun Rubio; María-Isabel Tejada
Journal:  BMC Med Genet       Date:  2012-08-06       Impact factor: 2.103

Review 10.  Induced pluripotent stem cells to model and treat neurogenetic disorders.

Authors:  Hansen Wang; Laurie C Doering
Journal:  Neural Plast       Date:  2012-07-19       Impact factor: 3.599
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.