Literature DB >> 21378989

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Bertrand Isidor1, Pierre Lindenbaum, Olivier Pichon, Stéphane Bézieau, Christian Dina, Sébastien Jacquemont, Dominique Martin-Coignard, Christel Thauvin-Robinet, Martine Le Merrer, Jean-Louis Mandel, Albert David, Laurence Faivre, Valérie Cormier-Daire, Richard Redon, Cédric Le Caignec.   

Abstract

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.

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Year:  2011        PMID： 21378989     DOI： 10.1038/ng.778

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Pathologic lower extremity fractures in children with Alagille syndrome.

Authors:  Christina B Bales; Binita M Kamath; Pedro S Munoz; Alexander Nguyen; David A Piccoli; Nancy B Spinner; David Horn; Justine Shults; Mary B Leonard; Adda Grimberg; Kathleen M Loomes
Journal:  J Pediatr Gastroenterol Nutr       Date:  2010-07       Impact factor: 2.839

2.  Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia.

Authors:  Andrew P Weng; Adolfo A Ferrando; Woojoong Lee; John P Morris; Lewis B Silverman; Cheryll Sanchez-Irizarry; Stephen C Blacklow; A Thomas Look; Jon C Aster
Journal:  Science       Date:  2004-10-08       Impact factor: 47.728

3.  Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation.

Authors:  Matthew J Hilton; Xiaolin Tu; Ximei Wu; Shuting Bai; Haibo Zhao; Tatsuya Kobayashi; Henry M Kronenberg; Steven L Teitelbaum; F Patrick Ross; Raphael Kopan; Fanxin Long
Journal:  Nat Med       Date:  2008-02-24       Impact factor: 53.440

4.  Dimorphic effects of Notch signaling in bone homeostasis.

Authors:  Feyza Engin; Zhenqiang Yao; Tao Yang; Guang Zhou; Terry Bertin; Ming Ming Jiang; Yuqing Chen; Lisa Wang; Hui Zheng; Richard E Sutton; Brendan F Boyce; Brendan Lee
Journal:  Nat Med       Date:  2008-02-24       Impact factor: 53.440

Review 5.  The canonical Notch signaling pathway: unfolding the activation mechanism.

Authors:  Raphael Kopan; Maria Xenia G Ilagan
Journal:  Cell       Date:  2009-04-17       Impact factor: 41.582

6.  NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Authors:  Ryan McDaniell; Daniel M Warthen; Pedro A Sanchez-Lara; Athma Pai; Ian D Krantz; David A Piccoli; Nancy B Spinner
Journal:  Am J Hum Genet       Date:  2006-05-10       Impact factor: 11.025

7.  Gain-of-function mutations and copy number increases of Notch2 in diffuse large B-cell lymphoma.

Authors:  Suk-young Lee; Keiki Kumano; Kumi Nakazaki; Masashi Sanada; Akihiko Matsumoto; Go Yamamoto; Yasuhito Nannya; Ritsuro Suzuki; Satoshi Ota; Yasunori Ota; Koji Izutsu; Mamiko Sakata-Yanagimoto; Akira Hangaishi; Hideo Yagita; Masashi Fukayama; Masao Seto; Mineo Kurokawa; Seishi Ogawa; Shigeru Chiba
Journal:  Cancer Sci       Date:  2009-05       Impact factor: 6.716

8.  Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.

Authors:  Annie W C Kung; Su-Mei Xiao; Stacey Cherny; Gloria H Y Li; Yi Gao; Gloria Tso; Kam S Lau; Keith D K Luk; Jian-min Liu; Bin Cui; Min-Jia Zhang; Zhen-lin Zhang; Jin-wei He; Hua Yue; Wia-bo Xia; Lian-mei Luo; Shu-li He; Douglas P Kiel; David Karasik; Yi-Hsiang Hsu; L Adrienne Cupples; Serkalem Demissie; Unnur Styrkarsdottir; Bjarni V Halldorsson; Gunnar Sigurdsson; Unnur Thorsteinsdottir; Kari Stefansson; J Brent Richards; Guangju Zhai; Nicole Soranzo; Ana Valdes; Tim D Spector; Pak C Sham
Journal:  Am J Hum Genet       Date:  2010-01-21       Impact factor: 11.025

9.  Notch inhibits osteoblast differentiation and causes osteopenia.

Authors:  Stefano Zanotti; Anna Smerdel-Ramoya; Lisa Stadmeyer; Deena Durant; Freddy Radtke; Ernesto Canalis
Journal:  Endocrinology       Date:  2008-04-17       Impact factor: 4.736

10.  The association of Notch2 and NF-kappaB accelerates RANKL-induced osteoclastogenesis.

Authors:  Hidefumi Fukushima; Akihiro Nakao; Fujio Okamoto; Masashi Shin; Hiroshi Kajiya; Seiji Sakano; Anna Bigas; Eijiro Jimi; Koji Okabe
Journal:  Mol Cell Biol       Date:  2008-08-18       Impact factor: 4.272
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  93 in total

1.  Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Authors:  Karen W Gripp; Katherine M Robbins; Nara L Sobreira; P Dane Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2014-11-13       Impact factor: 2.802

2.  NOTCH-Mediated Maintenance and Expansion of Human Bone Marrow Stromal/Stem Cells: A Technology Designed for Orthopedic Regenerative Medicine.

Authors:  Yufeng Dong; Teng Long; Cuicui Wang; Anthony J Mirando; Jianquan Chen; Regis J O'Keefe; Matthew J Hilton
Journal:  Stem Cells Transl Med       Date:  2014-11-03       Impact factor: 6.940

Review 3.  Building strong bones: molecular regulation of the osteoblast lineage.

Authors:  Fanxin Long
Journal:  Nat Rev Mol Cell Biol       Date:  2011-12-22       Impact factor: 94.444

Review 4.  Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Authors:  Xi Lin; Wenxue Tang; Shoeb Ahmad; Jingqiao Lu; Candice C Colby; Jason Zhu; Qing Yu
Journal:  Hear Res       Date:  2012-01-14       Impact factor: 3.208

5.  miRNA-34c regulates Notch signaling during bone development.

Authors:  Yangjin Bae; Tao Yang; Huan-Chang Zeng; Philippe M Campeau; Yuqing Chen; Terry Bertin; Brian C Dawson; Elda Munivez; Jianning Tao; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2012-04-12       Impact factor: 6.150

Review 6.  Notch and disease: a growing field.

Authors:  Angeliki Louvi; Spyros Artavanis-Tsakonas
Journal:  Semin Cell Dev Biol       Date:  2012-02-20       Impact factor: 7.727

Review 7.  Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases.

Authors:  Jose L Salazar; Shinya Yamamoto
Journal:  Adv Exp Med Biol       Date:  2018       Impact factor: 2.622

8.  Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

Authors:  W Zhao; E Petit; R I Gafni; M T Collins; P G Robey; M Seton; K K Miller; M Mannstadt
Journal:  Osteoporos Int       Date:  2013-02-07       Impact factor: 4.507

Review 9.  Biological functions of fucose in mammals.

Authors:  Michael Schneider; Esam Al-Shareffi; Robert S Haltiwanger
Journal:  Glycobiology       Date:  2017-07-01       Impact factor: 4.313

10.  Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis.

Authors:  Jungeun Yu; Stefano Zanotti; Lauren Schilling; Chris Schoenherr; Aris N Economides; Archana Sanjay; Ernesto Canalis
Journal:  Am J Pathol       Date:  2018-03-12       Impact factor: 4.307
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