Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

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Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

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im Mai 2011 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2011

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Identification of genetic modi ...... vailable, but with limitations

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Diversity of human copy number variation and multicopy genes

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation.

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Transforming growth factor beta affects osteoclast differentiation via direct and indirect actions.

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

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918-919

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scholarly article

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10.1002/JBMR.391

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Wim Van Hul

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2011-05-01T00:00:00Z

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21541993

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Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

about

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P2860

Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

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