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Items: 1 to 20 of 86

1.

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Pittaway JFH, Harrison C, Rhee Y, Holder-Espinasse M, Fryer AE, Cundy T, Drake WM, Irving MD.

Orphanet J Rare Dis. 2018 Apr 4;13(1):47. doi: 10.1186/s13023-018-0795-5.

2.

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.

Fukushima H, Shimizu K, Watahiki A, Hoshikawa S, Kosho T, Oba D, Sakano S, Arakaki M, Yamada A, Nagashima K, Okabe K, Fukumoto S, Jimi E, Bigas A, Nakayama KI, Nakayama K, Aoki Y, Wei W, Inuzuka H.

Mol Cell. 2017 Nov 16;68(4):645-658.e5. doi: 10.1016/j.molcel.2017.10.018.

PMID:
29149593
3.

The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone.

Yu J, Zanotti S, Walia B, Jellison E, Sanjay A, Canalis E.

Am J Pathol. 2018 Jan;188(1):149-159. doi: 10.1016/j.ajpath.2017.09.010. Epub 2017 Oct 14.

PMID:
29037852
4.

Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.

Canalis E.

Metabolism. 2018 Mar;80:48-56. doi: 10.1016/j.metabol.2017.08.002. Epub 2017 Aug 24.

PMID:
28941602
5.

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.

Sakka S, Gafni RI, Davies JH, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4163-4172. doi: 10.1210/jc.2017-01102.

PMID:
28938420
6.

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

Fernandez-Marmiesse A, Gouveia S, Couce ML.

Curr Med Chem. 2018 Jan 30;25(3):404-432. doi: 10.2174/0929867324666170718101946. Review.

7.

Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome.

Zanotti S, Yu J, Sanjay A, Schilling L, Schoenherr C, Economides AN, Canalis E.

J Biol Chem. 2017 Jul 21;292(29):12232-12244. doi: 10.1074/jbc.M117.786129. Epub 2017 Jun 7.

PMID:
28592489
8.

Biological functions of fucose in mammals.

Schneider M, Al-Shareffi E, Haltiwanger RS.

Glycobiology. 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034.

PMID:
28430973
9.

Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies.

Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M, Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T, Tanaka M.

Oncotarget. 2017 Jul 11;8(28):45259-45273. doi: 10.18632/oncotarget.16696.

10.

An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice.

Canalis E, Sanjay A, Yu J, Zanotti S.

Endocrinology. 2017 Apr 1;158(4):730-742. doi: 10.1210/en.2016-1787.

11.

The role of Notch signaling in the mammalian ovary.

Vanorny DA, Mayo KE.

Reproduction. 2017 Jun;153(6):R187-R204. doi: 10.1530/REP-16-0689. Epub 2017 Mar 10. Review.

12.

Turn It Down a Notch.

Carrieri FA, Dale JK.

Front Cell Dev Biol. 2017 Jan 18;4:151. doi: 10.3389/fcell.2016.00151. eCollection 2016. Review.

13.

Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome.

Dokou P, Karoussis IK, Papavasiliou G, Kamposiora P, Vrahopoulos TP, Vrotsos JA.

Open Dent J. 2016 Oct 31;10:575-586. eCollection 2016.

14.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1405.

15.

Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.

Adami G, Rossini M, Gatti D, Orsolini G, Idolazzi L, Viapiana O, Scarpa A, Canalis E.

Bone. 2016 Nov;92:150-156. doi: 10.1016/j.bone.2016.08.025. Epub 2016 Aug 31.

16.

RNA-binding protein Musashi2 induced by RANKL is critical for osteoclast survival.

Fujiwara T, Zhou J, Ye S, Zhao H.

Cell Death Dis. 2016 Jul 21;7:e2300. doi: 10.1038/cddis.2016.213.

17.

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P.

J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11.

18.

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.

Canalis E, Zanotti S.

Curr Osteoporos Rep. 2016 Aug;14(4):126-31. doi: 10.1007/s11914-016-0311-6. Review.

19.

HES factors regulate specific aspects of chondrogenesis and chondrocyte hypertrophy during cartilage development.

Rutkowski TP, Kohn A, Sharma D, Ren Y, Mirando AJ, Hilton MJ.

J Cell Sci. 2016 Jun 1;129(11):2145-55. doi: 10.1242/jcs.181271. Epub 2016 May 9.

20.

Notch Signaling and the Skeleton.

Zanotti S, Canalis E.

Endocr Rev. 2016 Jun;37(3):223-53. doi: 10.1210/er.2016-1002. Epub 2016 Apr 13. Review.

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