(Q36927212)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment (English)

1 reference

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5 January 2020

1

1 reference

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5 January 2020

Barbara Peruzzi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Nadia Rucci

3

1 reference

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5 January 2020

Alfredo Cappariello

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Simone Cesaro

16

1 reference

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5 January 2020

Claudio Letizia

17

1 reference

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5 January 2020

Anna Teti

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

I Recchia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

M Longo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

D Fortunati

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

P Ballanti

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

M Iacobini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

M Luciani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

R Devito

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

R Pinto

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

M Caniglia

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

E Lanino

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

C Messina

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

G Bianchini

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

H Fryssira

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

P Grabowski

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

N Shaw

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

N Bishop

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

D Hughes

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

R P Kapur

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

H K Datta

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

A Taranta

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

R Fornari

27

1 reference

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5 January 2020

S Migliaccio

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

language of work or name

English

0 references

publication date

23 August 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

43

1 reference

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5 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

315-325

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

Osteoclast-derived activity in the coupling of bone formation to resorption.

5 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Modulation of osteoclast formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Acidification of the osteoclastic resorption compartment provides insight into the coupling of bone formation to bone resorption.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Bone remodeling: new aspects of a key process that controls skeletal maintenance and repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Severe malignant osteopetrosis caused by a GL gene mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Normative data for iliac bone histomorphometry in growing children.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Carbonic anhydrase II deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Osteopetrosis in the rat: coexistence of reductions in osteocalcin and bone resorption

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Na+/H+ antiporter is the primary proton transport system used by osteoclasts during bone resorption

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Inhibition of osteoclast proton transport by bafilomycin A1 abolishes bone resorption

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

pH dependence of bone resorption: mouse calvarial osteoclasts are activated by acidosis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Tartronates: a new generation of drugs affecting bone metabolism

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563229

The coupling of bone formation to bone resorption: a critical analysis of the concept and of its relevance to the pathogenesis of osteoporosis

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16118345

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Bafilomycin A1 inhibits bone resorption and tooth eruption in vivo

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16118345

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of Intermediate Osteopetrosis with Poikiloderma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16118345

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.036673

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16118345%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

16118345

1 reference