Osteopetrosis has been described in mice generated by homozygous gene disruption of c-src gene encoding for the p60c-Src protein tyrosine kinase (Src-/- mice). The similarities of bone histologic findings in this murine model to those observed in some patients first seen with autosomal recessive osteopetrosis, "malignant" osteopetrosis, led us to investigate the potential role of p60c-Src in the pathogenesis of malignant osteopetrosis in 13 children. In 4 patients a c-src mutation was ruled out by an intragenic microsatellite segregation study. In the other 9 we analyzed p60c-Src expression and function, as well as c-src sequence. The expression was normal in all of the patients tested. In addition, the tyrosine phosphorylation and kinase a...
Osteosclerosis (oc) is an osteopetrotic mutation in the mouse inherited as an autosomal recessive on...
Background: Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into...
Autoinflammatory syndromes are characterized by dysregulation of the innate immune response with sub...
Osteopetrosis has been described in mice generated by homozygous gene disruption of c-src gene encod...
c-src deletion in mice leads to osteopetrosis as a result of reduced bone resorption due to an alter...
Targeted disruption of the c-src proto-oncogene in mice has shown that src expression is required fo...
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in oste...
Osteopetrosis (op/op) is a new mutation in the mouse that is transmitted as an autosomal recessive l...
Dysfunction in or lack of osteoclasts result in osteopetrosis, a group of rare but often severe, gen...
Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, gen...
Osteopetrosis is a disease characterised by a generalized skeletal sclerosis resulting from a reduce...
increases dramatically during myeloid cell development. Src-deficient mice exhibit functional abnorm...
This article is hosted on a website external to the CBCRA Open Access Archive. Selecting “View/Open...
The Src family kinase (SFK)member SRC is amajor target in drug development because it is activated i...
Malignant infantile osteopetrosis is a rare and lethal disease characterized by the absence of bone ...
Osteosclerosis (oc) is an osteopetrotic mutation in the mouse inherited as an autosomal recessive on...
Background: Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into...
Autoinflammatory syndromes are characterized by dysregulation of the innate immune response with sub...
Osteopetrosis has been described in mice generated by homozygous gene disruption of c-src gene encod...
c-src deletion in mice leads to osteopetrosis as a result of reduced bone resorption due to an alter...
Targeted disruption of the c-src proto-oncogene in mice has shown that src expression is required fo...
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in oste...
Osteopetrosis (op/op) is a new mutation in the mouse that is transmitted as an autosomal recessive l...
Dysfunction in or lack of osteoclasts result in osteopetrosis, a group of rare but often severe, gen...
Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, gen...
Osteopetrosis is a disease characterised by a generalized skeletal sclerosis resulting from a reduce...
increases dramatically during myeloid cell development. Src-deficient mice exhibit functional abnorm...
This article is hosted on a website external to the CBCRA Open Access Archive. Selecting “View/Open...
The Src family kinase (SFK)member SRC is amajor target in drug development because it is activated i...
Malignant infantile osteopetrosis is a rare and lethal disease characterized by the absence of bone ...
Osteosclerosis (oc) is an osteopetrotic mutation in the mouse inherited as an autosomal recessive on...
Background: Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into...
Autoinflammatory syndromes are characterized by dysregulation of the innate immune response with sub...