(Q56335726)

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Osteopetrosis

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scholarly article

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3 references

13 March 2019

22 April 2019

12 October 2019

Osteopetrosis (English)

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3 references

13 March 2019

22 April 2019

12 October 2019

1 reference

12 October 2019

1

object named as

Zornitza Stark

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author name string

Ravi Savarirayan

2

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language of work or name

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publication date

20 February 2009

3 references

13 March 2019

22 April 2019

12 October 2019

Orphanet Journal of Rare Diseases

3 references

13 March 2019

22 April 2019

12 October 2019

4

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1

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5

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copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

13 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

12 October 2019

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-4-5

0 references

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Kindlin-3: a new gene involved in the pathogenesis of LAD-III.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Orthopaedic management of the patient with osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Genetics, pathogenesis and complications of osteopetrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pycnodysostosis: Toulouse-Lautrec's and Aesop's disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

The regulation of cathepsin K gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Otologic manifestations of malignant osteopetrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Localization of the gene causing the osteopetrotic phenotype in the incisors absent (ia) rat on chromosome 10q32.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pyknodysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

THE MALADY OF TOULOUSE-LAUTREC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Mixed sclerosing bone dysplasia—a case report with literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Neurological aspects of osteopetrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

The mutational spectrum of human malignant autosomal recessive osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Birth and Death of Bone Cells: Basic Regulatory Mechanisms and Implications for the Pathogenesis and Treatment of Osteoporosis 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Melorheostosis in a family with autosomal dominant osteopoikilosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Proteolytic activity of human osteoclast cathepsin K. Expression, purification, activation, and substrate identification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Carbonic anhydrase II deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Long-term treatment of osteopetrosis with recombinant human interferon gamma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

The classic: Osteopetrosis cured by temporary parabiosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Treatment of congenital osteopetrosis with high-dose calcitriol.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Plasma Calcitonin in Pycnodysostosis: Intermittently High Basal Levels and Exaggerated Responses to Calcium and Glucagon Infusions*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pycnodysostosis. A review of reported dental abnormalities and a report of the dental findings in two cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Pycnodysostosis. Report of a case and review of the Japanese literature, with emphasis on oral and maxillofacial findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Recombinant human interferon gamma therapy for osteopetrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

7 September 2018

Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

2 November 2018

Cathepsin K Knockout Mice Develop Osteopetrosis Due to a Deficit in Matrix Degradation but Not Demineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

30 November 2018

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2654865

30 November 2018

Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Dysosteosclerosis--a special form of generalized osteosclerosis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteoclastic bone degradation and the role of different cysteine proteinases and matrix metalloproteinases: differences between calvaria and long bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Melorheostosis in a patient with familial osteopoikilosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pycnodysostosis. Orthopedic aspects with a description of 14 new cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteopetrosis in children: a report of 26 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peptide aldehyde inhibitors of cathepsin K inhibit bone resorption both in vitro and in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete visual recovery in osteopetrosis by early optic nerve decompression

1 reference

https://pubmed.ncbi.nlm.nih.gov/19232111

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-4-5

0 references

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1750-1172-4-5

PMC publication ID

0 references

PubMed publication ID

0 references

ResearchGate publication ID

0 references

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