(Q47391362)

15 January 2018

http://europepmc.org/abstract/MED/29149593

title

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis (English)

1 reference

15 January 2018

http://europepmc.org/abstract/MED/29149593

0 references

1 reference

1 reference

F-box and WD repeat domain containing 7

1 reference

negative regulation of osteoclast development

1 reference

F-box and WD-40 domain protein 7

1 reference

author name string

Hidefumi Fukushima

1

1 reference

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9 June 2020

Kouhei Shimizu

2

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9 June 2020

Asami Watahiki

3

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9 June 2020

Seira Hoshikawa

4

1 reference

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9 June 2020

Tomoki Kosho

5

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9 June 2020

Daiju Oba

6

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9 June 2020

Seiji Sakano

7

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9 June 2020

Makiko Arakaki

8

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9 June 2020

Aya Yamada

9

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9 June 2020

Katsuyuki Nagashima

10

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9 June 2020

Koji Okabe

11

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9 June 2020

Eijiro Jimi

13

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9 June 2020

Keiichi I Nakayama

15

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9 June 2020

Keiko Nakayama

16

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9 June 2020

Yoko Aoki

17

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9 June 2020

Wenyi Wei

18

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9 June 2020

Hiroyuki Inuzuka

19

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9 June 2020

publication date

1 November 2017

1 reference

15 January 2018

http://europepmc.org/abstract/MED/29149593

published in

Molecular Cell

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29149593%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

68

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9 June 2020

issue

4

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9 June 2020

page(s)

645-658.e5

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describes a project that uses

9 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5730348/fullTextXML

inferred from PubMed Central ID database lookup

cites work

High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome.

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

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

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Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption

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Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

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

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

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

26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1

26 August 2018

1 reference

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PEST sequences and regulation by proteolysis

26 August 2018

1 reference

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Processing of the NF-kappa B2 precursor p100 to p52 is critical for RANKL-induced osteoclast differentiation

26 August 2018

1 reference

12 December 2020

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12 December 2020

Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome

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12 December 2020

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10.1016/J.MOLCEL.2017.10.018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29149593%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29149593%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference