Literature DB >> 15241480

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.

Karen M Lower, Göran Solders, Marie-Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington, Jozef Gécz.   

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Year:  2004        PMID： 15241480     DOI： 10.1038/sj.ejhg.5201228

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  11 in total

Review 1.  Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

Authors:  Arezu Jahani-Asl; Cheng Cheng; Chi Zhang; Azad Bonni
Journal:  Neurobiol Dis       Date:  2016-09-12       Impact factor: 5.996

2.  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

3.  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

4.  T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.

Authors:  Mwe Mwe Chao; Matthew A Todd; Udo Kontny; Katherine Neas; Michael J Sullivan; Alasdair G Hunter; David J Picketts; Christian P Kratz
Journal:  Pediatr Blood Cancer       Date:  2010-10       Impact factor: 3.167

5.  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

6.  Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 gene.

Authors:  Séverine Landais; Renaud Quantin; Eric Rassart
Journal:  J Virol       Date:  2005-09       Impact factor: 5.103

7.  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

8.  Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.

Authors:  Kim De Keersmaecker; Zeynep Kalender Atak; Ning Li; Carmen Vicente; Stephanie Patchett; Tiziana Girardi; Valentina Gianfelici; Ellen Geerdens; Emmanuelle Clappier; Michaël Porcu; Idoya Lahortiga; Rossella Lucà; Jiekun Yan; Gert Hulselmans; Hilde Vranckx; Roel Vandepoel; Bram Sweron; Kris Jacobs; Nicole Mentens; Iwona Wlodarska; Barbara Cauwelier; Jacqueline Cloos; Jean Soulier; Anne Uyttebroeck; Claudia Bagni; Bassem A Hassan; Peter Vandenberghe; Arlen W Johnson; Stein Aerts; Jan Cools
Journal:  Nat Genet       Date:  2012-12-23       Impact factor: 38.330

9.  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

10.  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
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