Literature DB >> 14729829

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

M Venturin, P Guarnieri, F Natacci, M Stabile, R Tenconi, M Clementi, C Hernandez, P Thompson, M Upadhyaya, L Larizza, P Riva.   

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Year:  2004        PMID： 14729829      PMCID： PMC1757270          DOI： 10.1136/jmg.2003.014761

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


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  43 in total

1.  Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Authors:  Marco Venturin; Cristina Gervasini; Francesca Orzan; Angela Bentivegna; Lucia Corrado; Patrizia Colapietro; Alessandra Friso; Romano Tenconi; Meena Upadhyaya; Lidia Larizza; Paola Riva
Journal:  Hum Genet       Date:  2004-04-21       Impact factor: 4.132

2.  A direct interaction between the Utp6 half-a-tetratricopeptide repeat domain and a specific peptide in Utp21 is essential for efficient pre-rRNA processing.

Authors:  Erica A Champion; Bennett H Lane; Meredith E Jackrel; Lynne Regan; Susan J Baserga
Journal:  Mol Cell Biol       Date:  2008-08-25       Impact factor: 4.272

3.  Neurofibromatosis: chronological history and current issues.

Authors:  João Roberto Antônio; Eny Maria Goloni-Bertollo; Lívia Arroyo Trídico
Journal:  An Bras Dermatol       Date:  2013 May-Jun       Impact factor: 1.896

4.  The role of miR-103 and miR-107 in regulation of CDK5R1 expression and in cellular migration.

Authors:  Silvia Moncini; Alessandro Salvi; Paola Zuccotti; Gabriella Viero; Alessandro Quattrone; Sergio Barlati; Giuseppina De Petro; Marco Venturin; Paola Riva
Journal:  PLoS One       Date:  2011-05-23       Impact factor: 3.240

5.  Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice.

Authors:  Ki Beom Bae; Myoung Ok Kim; Dong Hoon Yu; Mi Jung Shin; Hei Jung Kim; Hyung Soo Yuh; Young Rae Ji; Jae-Young Kim; Jin Man Kim; Byung Hwa Hyun; Hwi Cheul Lee; Won Kyong Chang; Soo Bong Park; Do Hyung Kim; Hyun-Shik Lee; Yeon-Sik Choo; Sanggyu Lee; Zae Young Ryoo
Journal:  Transgenic Res       Date:  2011-01-09       Impact factor: 2.788

Review 6.  Tale of the Good and the Bad Cdk5: Remodeling of the Actin Cytoskeleton in the Brain.

Authors:  Kavita Shah; Sandra Rossie
Journal:  Mol Neurobiol       Date:  2017-05-13       Impact factor: 5.590

7.  The Cdk5-Mcl-1 axis promotes mitochondrial dysfunction and neurodegeneration in a model of Alzheimer's disease.

Authors:  Kumar Nikhil; Kavita Shah
Journal:  J Cell Sci       Date:  2017-07-27       Impact factor: 5.285

8.  Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.

Authors:  B Bartelt-Kirbach; M Wuepping; M Dodrimont-Lattke; D Kaufmann
Journal:  Neurogenetics       Date:  2008-10-11       Impact factor: 2.660

9.  Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Authors:  Silvia Moncini; Paola Castronovo; Alessandra Murgia; Silvia Russo; Maria Francesca Bedeschi; Marta Lunghi; Angelo Selicorni; Maria Teresa Bonati; Paola Riva; Marco Venturin
Journal:  J Hum Genet       Date:  2015-12-10       Impact factor: 3.172

10.  Down-regulated Six2 by knockdown of neurofibromin results in apoptosis of metanephric mesenchyme cells in vitro.

Authors:  Puhui Zhou; Tielin Chen; Yin Fang; Honglian Wang; Mi Li; Pengpeng Ma; Lu He; Qianyin Li; Tianming Liu; Xianggui Yang; Fang Nie; Xiaoyan Wang; Yue Yuan; Li Zhou; Rui Peng; Zhicheng Liu; Qin Zhou
Journal:  Mol Cell Biochem       Date:  2014-02-27       Impact factor: 3.396
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