Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human (Q28590831)

31 January 2017

title

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

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Osteopetrosis associated transmembrane protein 1

31 January 2017

main subject

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GOA release 2020-03-11

Anna Villa

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Nader Chalhoub

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31 January 2017

Nadia Benachenhou

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31 January 2017

Venkatesh Rajapurohitam

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31 January 2017

Monica Pata

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31 January 2017

Mathieu Ferron

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31 January 2017

Annalisa Frattini

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31 January 2017

Jean Vacher

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31 January 2017

language of work or name

English

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publication date

1 April 2003

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31 January 2017

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page(s)

399–406

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The genetic transformation of bone biology

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cites work

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7 January 2021

Bone resorption by osteoclasts

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7 January 2021

Osteopetrosis and osteoporosis: two sides of the same coin

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7 January 2021

Autosomal recessive osteopetrosis: diagnosis, management, and outcome

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7 January 2021

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group

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7 January 2021

Hematopoietic stem cell transplantation for infantile osteopetrosis

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7 January 2021

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

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7 January 2021

The mutational spectrum of human malignant autosomal recessive osteopetrosis

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7 January 2021

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

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7 January 2021

Osteopetrosis in mice lacking haematopoietic transcription factor PU.1.

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7 January 2021

Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

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7 January 2021

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

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7 January 2021

Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects

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7 January 2021

Pleiotropic effects of a null mutation in the c-fos proto-oncogene

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7 January 2021

Bone and haematopoietic defects in mice lacking c-fos

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7 January 2021

OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

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7 January 2021

Delayed hematopoietic development in osteopetrotic (op/op) mice

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7 January 2021

Fusion disability of embryonic osteoclast precursor cells and macrophages in the microphthalmic osteopetrotic mouse

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7 January 2021

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

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7 January 2021

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

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7 January 2021

TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling

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7 January 2021

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

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7 January 2021

The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

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7 January 2021

Bone Resorption Restored in Osteopetrotic Mice by Transplants of Normal Bone Marrow and Spleen Cells

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7 January 2021

The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function.

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7 January 2021

Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation

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7 January 2021

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

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7 January 2021

Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells

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7 January 2021

Localization of a proton-pumping ATPase in rat kidney

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7 January 2021

Identification of the murine beige gene by YAC complementation and positional cloning

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7 January 2021

Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border

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7 January 2021

Polarized secretion of lysosomal enzymes: co-distribution of cation-independent mannose-6-phosphate receptors and lysosomal enzymes along the osteoclast exocytic pathway

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7 January 2021

Osteoclastic bone resorption by a polarized vacuolar proton pump

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7 January 2021

Dominant Negative Regulation of the Mouse α-Fetoprotein Gene in Adult Liver

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7 January 2021

A line of non-tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth

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7 January 2021

The zonal expression of alpha-fetoprotein transgenes in the livers of adult mice

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7 January 2021

The pro-protein convertase PC1 is induced in the transected sciatic nerve and is present in cultured Schwann cells: comparison with PC5, furin and PC7, implication in pro-BDNF processing

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7 January 2021

Identifiers

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31 January 2017

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