Literature DB >> 21378985

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Michael A Simpson1, Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitra Dafou, Frances V Elmslie, Sahar Mansour, Sue E Holder, Caroline E Brain, Barbara K Burton, Katherine H Kim, Richard M Pauli, Salim Aftimos, Helen Stewart, Chong Ae Kim, Muriel Holder-Espinasse, Stephen P Robertson, William M Drake, Richard C Trembath.   

Abstract

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.

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Year:  2011        PMID： 21378985     DOI： 10.1038/ng.779

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


  12 in total

1.  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

Review 2.  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

Review 3.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.

Authors:  E Nagy; L E Maquat
Journal:  Trends Biochem Sci       Date:  1998-06       Impact factor: 13.807

Review 4.  PEST sequences and regulation by proteolysis.

Authors:  M Rechsteiner; S W Rogers
Journal:  Trends Biochem Sci       Date:  1996-07       Impact factor: 13.807

5.  Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

Authors:  J D Morrissette; R P Colliton; N B Spinner
Journal:  Hum Mol Genet       Date:  2001-02-15       Impact factor: 6.150

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

Review 7.  Notch and the skeleton.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Mol Cell Biol       Date:  2009-12-07       Impact factor: 4.272

8.  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

9.  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

10.  Mutation in ankyrin repeats of the mouse Notch2 gene induces early embryonic lethality.

Authors:  Y Hamada; Y Kadokawa; M Okabe; M Ikawa; J R Coleman; Y Tsujimoto
Journal:  Development       Date:  1999-08       Impact factor: 6.868
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  141 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

3.  Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Authors:  Jill Clayton-Smith; James O'Sullivan; Sarah Daly; Sanjeev Bhaskar; Ruth Day; Beverley Anderson; Anne K Voss; Tim Thomas; Leslie G Biesecker; Philip Smith; Alan Fryer; Kate E Chandler; Bronwyn Kerr; May Tassabehji; Sally-Ann Lynch; Malgorzata Krajewska-Walasek; Shane McKee; Janine Smith; Elizabeth Sweeney; Sahar Mansour; Shehla Mohammed; Dian Donnai; Graeme Black
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

Review 4.  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 5.  Biomedical impact of splicing mutations revealed through exome sequencing.

Authors:  Bahar Taneri; Esra Asilmaz; Terry Gaasterland
Journal:  Mol Med       Date:  2012-03-30       Impact factor: 6.354

Review 6.  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

7.  Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Authors:  Andreas Zankl; Emma L Duncan; Paul J Leo; Graeme R Clark; Evgeny A Glazov; Marie-Claude Addor; Troels Herlin; Chong Ae Kim; Bruno P Leheup; Jim McGill; Steven McTaggart; Stephan Mittas; Anna L Mitchell; Geert R Mortier; Stephen P Robertson; Marie Schroeder; Paulien Terhal; Matthew A Brown
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

Review 8.  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 9.  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

10.  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
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