Literature DB >> 21826058

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.

I Voineagu, L Huang, K Winden, M Lazaro, E Haan, J Nelson, J McGaughran, L S Nguyen, K Friend, A Hackett, M Field, J Gecz, D Geschwind.   

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Year:  2011        PMID： 21826058      PMCID： PMC3586744          DOI： 10.1038/mp.2011.95

Source DB:  PubMed          Journal:  Mol Psychiatry        ISSN： 1359-4184            Impact factor:   15.992


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  22 in total

Review 1.  When the message goes awry: disease-producing mutations that influence mRNA content and performance.

Authors:  J T Mendell; H C Dietz
Journal:  Cell       Date:  2001-11-16       Impact factor: 41.582

2.  Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.

Authors:  Jose Luis Tomsig; Sandra L Snyder; Carl E Creutz
Journal:  J Biol Chem       Date:  2003-01-08       Impact factor: 5.157

Review 3.  Process or perish: quality control in mRNA biogenesis.

Authors:  Milo B Fasken; Anita H Corbett
Journal:  Nat Struct Mol Biol       Date:  2005-06       Impact factor: 15.369

4.  Network neighborhood analysis with the multi-node topological overlap measure.

Authors:  Ai Li; Steve Horvath
Journal:  Bioinformatics       Date:  2006-11-16       Impact factor: 6.937

Review 5.  Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function.

Authors:  Olaf Isken; Lynne E Maquat
Journal:  Genes Dev       Date:  2007-08-01       Impact factor: 11.361

6.  Improved splice site detection in Genie.

Authors:  M G Reese; F H Eeckman; D Kulp; D Haussler
Journal:  J Comput Biol       Date:  1997       Impact factor: 1.479

7.  Construction of a novel database containing aberrant splicing mutations of mammalian genes.

Authors:  K Nakai; H Sakamoto
Journal:  Gene       Date:  1994-04-20       Impact factor: 3.688

8.  The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Authors:  D Germanaud; M Rossi; G Bussy; D Gérard; L Hertz-Pannier; P Blanchet; H Dollfus; F Giuliano; V Bennouna-Greene; P Sarda; S Sigaudy; A Curie; M C Vincent; R Touraine; V des Portes
Journal:  Clin Genet       Date:  2010-10-18       Impact factor: 4.438

9.  Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system.

Authors:  J Mulder; H Wernérus; T-J Shi; F Pontén; S Hober; M Uhlén; T Hökfelt
Journal:  Neuroscience       Date:  2007-05-02       Impact factor: 3.590

10.  Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Authors:  Vera M Kalscheuer; Kristine Freude; Luciana Musante; Lars R Jensen; Helger G Yntema; Jozef Gécz; Abdelaziz Sefiani; Kirsten Hoffmann; Bettina Moser; Stefan Haas; Ulf Gurok; Sebastian Haesler; Beatriz Aranda; Arpik Nshedjan; Andreas Tzschach; Nils Hartmann; Tim-Christoph Roloff; Sarah Shoichet; Olivier Hagens; Jiong Tao; Hans Van Bokhoven; Gillian Turner; Jamel Chelly; Claude Moraine; Jean-Pierre Fryns; Ulrike Nuber; Maria Hoeltzenbein; Constance Scharff; Harry Scherthan; Steffen Lenzner; Ben C J Hamel; Susann Schweiger; Hans-Hilger Ropers
Journal:  Nat Genet       Date:  2003-11-23       Impact factor: 38.330
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  24 in total

1.  Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

Authors:  Rui Luo; Stephan J Sanders; Yuan Tian; Irina Voineagu; Ni Huang; Su H Chu; Lambertus Klei; Chaochao Cai; Jing Ou; Jennifer K Lowe; Matthew E Hurles; Bernie Devlin; Matthew W State; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2012-06-21       Impact factor: 11.025

2.  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

3.  FOXP3 rs3761548 polymorphism is associated with tacrolimus-induced acute nephrotoxicity in renal transplant patients.

Authors:  Zhuo Wu; Qinxia Xu; Xiaoyan Qiu; Zheng Jiao; Ming Zhang; Mingkang Zhong
Journal:  Eur J Clin Pharmacol       Date:  2016-10-17       Impact factor: 2.953

4.  The Biochemical Evolution of Protein Complexes.

Authors:  Todd M Greco; Ileana M Cristea
Journal:  Trends Biochem Sci       Date:  2015-12-09       Impact factor: 13.807

5.  X-chromosome association studies of congenital heart defects.

Authors:  A J Agopian; Thanh T Hoang; Elizabeth Goldmuntz; Hakon Hakonarson; Fadi I Musfee; Laura E Mitchell
Journal:  Am J Med Genet A       Date:  2019-11-15       Impact factor: 2.802

Review 6.  Endosomal receptor trafficking: Retromer and beyond.

Authors:  Jing Wang; Alina Fedoseienko; Baoyu Chen; Ezra Burstein; Da Jia; Daniel D Billadeau
Journal:  Traffic       Date:  2018-05-21       Impact factor: 6.215

7.  Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.

Authors:  Yusuke Yamashita; Akinori Nishikawa; Yoshifumi Iwahashi; Masakazu Fujimoto; Izumi Sasaki; Hiroyuki Mishima; Akira Kinoshita; Hiroaki Hemmi; Nobuo Kanazawa; Kouichi Ohshima; Ken-Ichi Imadome; Shin-Ichi Murata; Koh-Ichiro Yoshiura; Tsuneyasu Kaisho; Takashi Sonoki; Shinobu Tamura
Journal:  Int J Hematol       Date:  2019-01-31       Impact factor: 2.490

8.  [Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].

Authors:  Yan-Ting Liang; Hui-Yun Jiang; Hua-Yu Fu
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-10

9.  Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Authors:  Mateusz Kolanczyk; Peter Krawitz; Jochen Hecht; Anna Hupalowska; Marta Miaczynska; Katrin Marschner; Claire Schlack; Denise Emmerich; Karolina Kobus; Uwe Kornak; Peter N Robinson; Barbara Plecko; Gernot Grangl; Sabine Uhrig; Stefan Mundlos; Denise Horn
Journal:  Eur J Hum Genet       Date:  2014-06-11       Impact factor: 4.246

10.  CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.

Authors:  Petro Starokadomskyy; Nathan Gluck; Haiying Li; Baozhi Chen; Mathew Wallis; Gabriel N Maine; Xicheng Mao; Iram W Zaidi; Marco Y Hein; Fiona J McDonald; Steffen Lenzner; Agnes Zecha; Hans-Hilger Ropers; Andreas W Kuss; Julie McGaughran; Jozef Gecz; Ezra Burstein
Journal:  J Clin Invest       Date:  2013-04-08       Impact factor: 14.808
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