(Q38848655)

7 September 2017

1 reference

title

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations (English)

1 reference

7 September 2017

Hajdu-Cheney syndrome

1 reference

1

Ernesto Canalis

0 references

Stefano Zanotti

series ordinal

2

object named as

Stefano Zanotti

1 reference

7 September 2017

Ernesto Canalis

1

1 reference

PMCID

4927394

7 September 2017

language of work or name

1 reference

30 May 2016

1 reference

Current osteoporosis reports

7 September 2017

1 reference

7 September 2017

14

1 reference

7 September 2017

4

1 reference

7 September 2017

126-131

1 reference

https://scigraph.springernature.com/pub.10.1007/s11914-016-0311-6

7 September 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Inhibition of Notch Signaling During Mouse Incisor Renewal Leads to Enamel Defects

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Hajdu-Cheney syndrome: a review

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch activation as a driver of osteogenic sarcoma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Coupling the activities of bone formation and resorption: a multitude of signals within the basic multicellular unit

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Wnt signalling in osteoporosis: mechanisms and novel therapeutic approaches

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

The osteocyte: an endocrine cell ... and more

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch signaling in skeletal health and disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch suppresses nuclear factor of activated T cells (NFAT) transactivation and Nfatc1 expression in chondrocytes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Update on Wnt signaling in bone cell biology and bone disease.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch regulation of bone development and remodeling and related skeletal disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Evidence for osteocyte regulation of bone homeostasis through RANKL expression

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Matrix-embedded cells control osteoclast formation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

HES1 (hairy and enhancer of split 1) is a determinant of bone mass

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Osteocyte Wnt/beta-catenin signaling is required for normal bone homeostasis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Therapeutic antibody targeting of individual Notch receptors

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

RBPjkappa-dependent Notch signaling regulates mesenchymal progenitor cell proliferation and differentiation during skeletal development

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

9 September 2017

Notch and the skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Direct inhibition of the NOTCH transcription factor complex

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch signaling: the core pathway and its posttranslational regulation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

The canonical Notch signaling pathway: unfolding the activation mechanism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch signaling contributes to the pathogenesis of human osteosarcomas

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

More complicated than it looks: assembly of Notch pathway transcription complexes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch inhibits osteoblast differentiation and causes osteopenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Dimorphic effects of Notch signaling in bone homeostasis.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Regulation of Notch signaling by glycosylation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Mechanisms of anabolic therapies for osteoporosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Oscillator mechanism of Notch pathway in the segmentation clock

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Osteoclasts: what do they do and how do they do it?

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Bone morphogenetic proteins and their antagonists

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Bone quality--the material and structural basis of bone strength and fragility

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Crystal structure of the CSL-Notch-Mastermind ternary complex bound to DNA.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch1 signals through Jagged2 to regulate apoptosis in the apical ectodermal ridge of the developing limb bud

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Bone morphogenetic proteins, their antagonists, and the skeleton

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

HES and HERP families: multiple effectors of the Notch signaling pathway

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch signaling: from the outside in

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Localization of ADAM10 and Notch receptors in bone

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Parathyroid hormone stimulates expression of the Notch ligand Jagged1 in osteoblastic cells.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

CD19-independent instruction of murine marginal zone B-cell development by constitutive Notch2 signaling.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

The cautionary tale of side effects of chronic Notch1 inhibition

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome)

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Hajdu-Cheney syndrome with ventricular septal defect

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

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.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Cranio-skeletal dysplasia.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

NOTCH1 regulates osteoclastogenesis directly in osteoclast precursors and indirectly via osteoblast lineage cells.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Notch2 haploinsufficiency results in diminished B1 B cells and a severe reduction in marginal zone B cells

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Cortisol regulates the expression of Notch in osteoblasts

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4927394

Hajdu-Cheney syndrome with severe dural ectasia

22 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11914-016-0311-6

Chronic DLL4 blockade induces vascular neoplasms

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11914-016-0311-6

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

21 January 2018

1 reference

12 December 2020

The fate of circulating osteoblasts

1 reference

12 December 2020

Coupling factors: how many candidates can there be?

1 reference

12 December 2020

The bone remodeling compartment: a circulatory function for bone lining cells

1 reference

12 December 2020

Wnt/beta-catenin signaling is a normal physiological response to mechanical loading in bone

1 reference

12 December 2020

The acro-osteolysis syndrome: Morphologic and biochemical studies

1 reference

12 December 2020

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

1 reference

12 December 2020

Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up

1 reference

12 December 2020

Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome

1 reference

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

1 reference

12 December 2020

1 reference

12 December 2020

10.1007/S11914-016-0311-6

Identifiers

DOI

1 reference

PMCID

4927394

Dimensions Publication ID

7 September 2017

0 references

1 reference

7 September 2017

1 reference

PMCID

4927394