Literature DB >> 15121780

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

T Kleefstra, H G Yntema, A R Oudakker, M J G Banning, V M Kalscheuer, J Chelly, C Moraine, H-H Ropers, J-P Fryns, I M Janssen, E A Sistermans, W N Nillesen, L B A de Vries, B C J Hamel, H van Bokhoven.   

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Year:  2004        PMID： 15121780      PMCID： PMC1735757          DOI： 10.1136/jmg.2003.016972

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


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  26 in total

1.  CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Authors:  Elsa Nicolas; Yannick Poitelon; Eliane Chouery; Nabiha Salem; Nicolas Levy; André Mégarbané; Valérie Delague
Journal:  Eur J Hum Genet       Date:  2010-06-09       Impact factor: 4.246

Review 2.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132

3.  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

4.  Widespread establishment and regulatory impact of Alu exons in human genes.

Authors:  Shihao Shen; Lan Lin; James J Cai; Peng Jiang; Elizabeth J Kenkel; Mallory R Stroik; Seiko Sato; Beverly L Davidson; Yi Xing
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-31       Impact factor: 11.205

5.  C2H2 zinc finger proteins greatly expand the human regulatory lexicon.

Authors:  Hamed S Najafabadi; Sanie Mnaimneh; Frank W Schmitges; Michael Garton; Kathy N Lam; Ally Yang; Mihai Albu; Matthew T Weirauch; Ernest Radovani; Philip M Kim; Jack Greenblatt; Brendan J Frey; Timothy R Hughes
Journal:  Nat Biotechnol       Date:  2015-02-18       Impact factor: 54.908

6.  METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Authors:  Rachel E Reiff; Bassam R Ali; Byron Baron; Timothy W Yu; Salma Ben-Salem; Michael E Coulter; Christian R Schubert; R Sean Hill; Nadia A Akawi; Banan Al-Younes; Namik Kaya; Gilad D Evrony; Muna Al-Saffar; Jillian M Felie; Jennifer N Partlow; Christine M Sunu; Pierre Schembri-Wismayer; Fowzan S Alkuraya; Brian F Meyer; Christopher A Walsh; Lihadh Al-Gazali; Ganeshwaran H Mochida
Journal:  Hum Mol Genet       Date:  2014-02-05       Impact factor: 6.150

7.  Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Authors:  Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2006-06-13       Impact factor: 11.025

8.  MicroRNA-181a modulates gene expression of zinc finger family members by directly targeting their coding regions.

Authors:  Shenglin Huang; Shunquan Wu; Jie Ding; Jun Lin; Lin Wei; Jianren Gu; Xianghuo He
Journal:  Nucleic Acids Res       Date:  2010-06-29       Impact factor: 16.971

9.  Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Authors:  Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan P M de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2009-11-18       Impact factor: 4.246

10.  Adaptive evolution in zinc finger transcription factors.

Authors:  Ryan O Emerson; James H Thomas
Journal:  PLoS Genet       Date:  2009-01-02       Impact factor: 5.917
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