Literature DB >> 22182342

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.

K Ravn, S G Lindquist, K Nielsen, T L Dahm, Z Tümer.   

Abstract

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Year:  2012        PMID： 22182342     DOI： 10.1111/j.1399-0004.2011.01839.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Variants in CUL4B are associated with cerebral malformations.

Authors:  Anneke T Vulto-van Silfhout; Tadashi Nakagawa; Nadia Bahi-Buisson; Stefan A Haas; Hao Hu; Melanie Bienek; Lisenka E L M Vissers; Christian Gilissen; Andreas Tzschach; Andreas Busche; Jörg Müsebeck; Patrick Rump; Inge B Mathijssen; Kristiina Avela; Mirja Somer; Fatma Doagu; Anju K Philips; Anita Rauch; Alessandra Baumer; Krysta Voesenek; Karine Poirier; Jacqueline Vigneron; Daniel Amram; Sylvie Odent; Magdalena Nawara; Ewa Obersztyn; Jacek Lenart; Agnieszka Charzewska; Nicolas Lebrun; Ute Fischer; Willy M Nillesen; Helger G Yntema; Irma Järvelä; Hans-Hilger Ropers; Bert B A de Vries; Han G Brunner; Hans van Bokhoven; F Lucy Raymond; Michèl A A P Willemsen; Jamel Chelly; Yue Xiong; A James Barkovich; Vera M Kalscheuer; Tjitske Kleefstra; Arjan P M de Brouwer
Journal:  Hum Mutat       Date:  2015-01       Impact factor: 4.878

Review 2.  Regulation of histone H3K4 methylation in brain development and disease.

Authors:  Erica Shen; Hennady Shulha; Zhiping Weng; Schahram Akbarian
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2014-09-26       Impact factor: 6.237

3.  CUL4B Upregulates RUNX2 to Promote the Osteogenic Differentiation of Human Periodontal Ligament Stem Cells by Epigenetically Repressing the Expression of miR-320c and miR-372/373-3p.

Authors:  Jun Mi; Shuangshuang Wang; Panpan Liu; Chang Liu; Dexuan Zhuang; Xue Leng; Qun Zhang; Fuxiang Bai; Qiang Feng; Xunwei Wu
Journal:  Front Cell Dev Biol       Date:  2022-06-16

4.  Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Authors:  Eric R Londin; Jeffrey Adijanto; Nancy Philp; Antonio Novelli; Emilia Vitale; Chiara Perria; Gigliola Serra; Viola Alesi; Saul Surrey; Paolo Fortina
Journal:  Am J Med Genet A       Date:  2014-06-04       Impact factor: 2.802

5.  Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.

Authors:  Baichun Jiang; Wei Zhao; Jupeng Yuan; Yanyan Qian; Wenjie Sun; Yongxin Zou; Chenhong Guo; Bingxi Chen; Changshun Shao; Yaoqin Gong
Journal:  PLoS One       Date:  2012-05-14       Impact factor: 3.240

6.  Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.

Authors:  Nobuhiko Okamoto; Miki Watanabe; Takuya Naruto; Keiko Matsuda; Tomohiro Kohmoto; Masako Saito; Kiyoshi Masuda; Issei Imoto
Journal:  Hum Genome Var       Date:  2017-01-19

7.  A novel CUL4B splice site variant in a young male exhibiting less pronounced features.

Authors:  Yuji Nakamura; Yusuke Okuno; Hideki Muramatsu; Tomoko Kawai; Kazuhito Satou; Daisuke Ieda; Ikumi Hori; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Yoshiyuki Takahashi; Seiji Kojima; Shinji Saitoh
Journal:  Hum Genome Var       Date:  2019-09-04

Review 8.  The Ubiquitin System: a Regulatory Hub for Intellectual Disability and Autism Spectrum Disorder.

Authors:  Stephen A Wood; Michael Piper; Maria A Kasherman; Susitha Premarathne; Thomas H J Burne
Journal:  Mol Neurobiol       Date:  2020-01-23       Impact factor: 5.590

9.  CUL4B promotes replication licensing by up-regulating the CDK2-CDC6 cascade.

Authors:  Yongxin Zou; Jun Mi; Wenxing Wang; Juanjuan Lu; Wei Zhao; Zhaojian Liu; Huili Hu; Yang Yang; Xiaoxing Gao; Baichun Jiang; Changshun Shao; Yaoqin Gong
Journal:  J Cell Biol       Date:  2013-03-11       Impact factor: 10.539
  9 in total

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