Literature DB >> 15466013

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.

D Vallée, E Chevrier, G E Graham, M A Lazzaro, P A Lavigne, A G Hunter, D J Picketts.   

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Year:  2004        PMID： 15466013      PMCID： PMC1735599          DOI： 10.1136/jmg.2004.020370

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


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  10 in total

1.  Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Authors:  J Crawford; K M Lower; R C M Hennekam; H Van Esch; A Mégarbané; S A Lynch; G Turner; J Gécz
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

2.  PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.

Authors:  S Berland; K Alme; A Brendehaug; G Houge; R Hovland
Journal:  Mol Syndromol       Date:  2011-07-19

Review 3.  The Role of PHF6 in Hematopoiesis and Hematologic Malignancies.

Authors:  Yusra A Eisa; Ying Guo; Feng-Chun Yang
Journal:  Stem Cell Rev Rep       Date:  2022-08-26       Impact factor: 6.692

4.  Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

Authors:  Zhonghua Liu; Fudong Li; Ke Ruan; Jiahai Zhang; Yide Mei; Jihui Wu; Yunyu Shi
Journal:  J Biol Chem       Date:  2014-02-19       Impact factor: 5.157

5.  The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Authors:  Anja Ernst; Vang Q Le; Allan T Højland; Inge S Pedersen; Tine H Sørensen; Lise L Bjerregaard; Troels J B Lyngbye; Ninna M Gammelager; Henrik Krarup; Michael B Petersen
Journal:  Mol Syndromol       Date:  2015-09-29

6.  Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.

Authors:  Raies Ahmed; Shihab Sarwar; Jinghua Hu; Valérie Cardin; Lily R Qiu; Gerardo Zapata; Lucianne Vandeleur; Keqin Yan; Jason P Lerch; Mark A Corbett; Jozef Gecz; David J Picketts
Journal:  Hum Mol Genet       Date:  2021-05-12       Impact factor: 6.150

Review 7.  PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.

Authors:  Matthew A M Todd; Danton Ivanochko; David J Picketts
Journal:  Genes (Basel)       Date:  2015-06-19       Impact factor: 4.096

8.  A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Authors:  Xia Zhang; Yanjie Fan; Xiaomin Liu; Ming-Ang Zhu; Yu Sun; Hui Yan; Yunjuan He; Xiantao Ye; Xuefan Gu; Yongguo Yu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-01-11

9.  Notoginsenoside R1 induces DNA damage via PHF6 protein to inhibit cervical carcinoma cell proliferation.

Authors:  Ting Cai; Wenquan Wu; Longhua Guo; Yongwu Xia; Xiaoxin Jiang; Limei Zhang; Feiding Peng; Pinghong Ming
Journal:  Mol Med Rep       Date:  2021-02-04       Impact factor: 2.952

10.  Loss of PHF6 leads to aberrant development of human neuron-like cells.

Authors:  Anna Fliedner; Anne Gregor; Fulvia Ferrazzi; Arif B Ekici; Heinrich Sticht; Christiane Zweier
Journal:  Sci Rep       Date:  2020-11-04       Impact factor: 4.996
  10 in total

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