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Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. Paper-12595856.
Effect of hyaluronidase ( GL enzyme) on mortality after myocardial infarction. Paper-4185212.
Conclusions: These results support the role of OSTM1 in osteoclast function and activation. Paper-12693074.
Astrocytes comprising the new GL were positive for anti- IL-1beta. Paper-1081682.
Our analysis suggests that OSTM1 defines a new subset of patients with severe central nervous system involvement. Paper-12054990.
Effect of GL enzyme (a highly purified form of hyaluronidase) on mortality after myocardial infarction. Paper-4185186.
GIPN mRNA is ubiquitously expressed, and GIPN is found on the plasma membrane of transfected HEK293 cells. Paper-9803921.
We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described. Paper-12054990.
Of the 71 patients with infarction, 35 received GL enzyme and 36 placebo within 6 h of the onset of chest pain. Paper-4185185.
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. Paper-12054990.
Effects of early administration of a highly purified hyaluronidase preparation ( GL enzyme) on myocardial infarct size. Paper-4185185.
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Paper-10553866.
Effect of a highly purified hyaluronidase preparation ( GL enzyme) on electrocardiographic changes in acute myocardial infarction. Paper-4185187.
Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS- GAIP. Paper-9803921.
At P6, a new and complete GL composed of GFAP-positive astrocytes was continuous with that of adjacent undamaged tissue. Paper-1081682.
Malignant osteopetrosis, a severe disease causing early infantile death in humans, is caused by mutations in the TCIRG1, CLCN7, or OSTM1 genes. Paper-12376942.
Overexpression of GIPN stimulates proteasome-dependent reduction of endogenous G alpha i3 in HEK293 cells and reduces the half-life of overexpressed G alpha i3-YFP. Paper-9803921.
CONCLUSIONS: These findings suggest that OSTM1-dependent ARO defines a new subset of patients with severe central nervous system involvement leading to a very poor prognosis. Paper-12054990.
RGS- GAIP functions as a bifunctional adaptor that binds to G alpha subunits through its RGS domain and to GIPN through its cysteine string motif. Paper-9803921.
Three kinds of boreal zone fish were investigated for gastrointestinal glycyl-L-leucine ( GL) dipeptide cleaving activity as a function of feeding stage and seasonal changes. Paper-10183229.
In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for an essential role of OSTM1 in normal neuronal cell development. Paper-12693074.
In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for an essential role of OSTM1 in normal neuronal cell development. Paper-12693074.
GIPN ( GAIP interacting protein N terminus) is a 38-kDa protein with an N-terminal leucine-rich region, a central RING finger-like domain, and a putative C-terminal transmembrane domain. Paper-9803921.
Endogenous GIPN is concentrated along the basolateral plasma membrane of proximal and distal tubules in rat kidney, where many G protein-coupled receptors and some G proteins are also located. Paper-9803921.
Autosomal recessive osteopetrosis ( OP) is a rare, lethal disorder in which osteoclasts are absent or nonfunctional, resulting in a bone marrow cavity insufficient to support hematopoiesis. Paper-11134349.
The influence of intravenous GL enzyme (hyaluronidase) on the outcome of myocardial infarction was assessed in a controlled trial among 483 patients presenting within 6 h of the onset of symptoms. Paper-4185186.
A highly purified preparation of hyaluronidase ( GL enzyme) was given in a double-blind, placebo-controlled, randomised study to 192 consecutive patients within 12 h of suspected myocardial infarction. Paper-4185187.
The grey-lethal mouse ( gl/ gl) mutant most closely resembles the severe human malignant autosomal recessive OSTM1-dependent form of osteopetrosis that it has been described to be associated with neurological abnormalities. Paper-13536506.
Loss of ClC-7 or its beta-subunit Ostm1 entails lysosomal storage in the PT, in addition to the neuronal lysosomal storage and osteopetrosis that are the hallmarks of ClC-7/ Ostm1 loss in mice and men. Paper-13704327.
Compared with those receiving placebo, patients with definite myocardial infarction given GL enzyme had significantly less change in QRS complexes; in those with anterior infarction the development of Q waves was less prominent. Paper-4185187.
These data suggest that upregulation of IL-1beta in astrocytes and interaction of IL-1beta with the neural IL-1 receptor are important for reconstruction of the GL following prenatal lesion in the murine brain. Paper-1081682.
At 4 months the overall mortality among those with definite and possible myocardial infarction receiving GL enzyme (6 out of 83 patients, 7.2%) was lower than that in those receiving placebo (11 out of 79, 14%); this difference was not significant. Paper-4185187.
In summary, we describe the identification of a novel mutation in the coding sequence of the human grey-lethal gene, which is the second OSTM1 mutation found in human ARO, confirming the involvement of this gene in the pathogenesis of this severe bone disease. Paper-10553866.
79 patients with suspected myocardial infarction entered a randomised trial to establish the safety of early intravenous administration of a highly purified hyaluronidase preparation ( GL enzyme) and to assess its effects on eventual infarct size as measured by electrocardiographic, enzymatic, and scintigraphic criteria. Paper-4185185.
The regulation of perinatal glia limitans ( GL) reformation by interleukin-1beta ( IL-1beta) following prenatal neural trauma in the mouse was studied in lesioned fetal mice by immunocytochemistry and computer-assisted image analysis for presence and distribution of astrocytes and IL-1beta immunoreactivity (ir). Paper-1081682.
The low content of sphingomyelin, sulfatide and galactosylceramide is consistent with the immunohistochemical results showing that in the grey-lethal brain significant depletion and disorganization of the myelinated fibres is present, thus supporting the hypothesis that loss of function of the OSTM1 causes neuronal impairment and myelin deficit. Paper-13536506.
These synonyms are used for gene OSTM1 (osteopetrosis associated transmembrane protein 1): UNQ6098/PRO21201, Osteopetrosis-associated transmembrane protein 1, OPTB5, HSPC019, GL, GIPN.
These accession numbers are used for gene OSTM1: Q9Y2S9 (UNIPROT__AC), Q7RTW6 (UNIPROT__AC), AAH68581 (NCBI_GENBANK__AC), AAD27000 (NCBI_GENBANK__AC).
OSTM1 is a homologue of OSTM1 (osteopetrosis associated transmembrane protein 1) from Bos taurus.
OSTM1 is a homologue of OSTM1 (osteopetrosis associated transmembrane protein 1) from Pan troglodytes.
OSTM1 is a homologue of OSTM1 (osteopetrosis associated transmembrane protein 1) from Gallus gallus.
OSTM1 is a homologue of Ostm1 (osteopetrosis associated transmembrane protein 1) from Mus musculus.
OSTM1 is a homologue of Ostm1 (osteopetrosis associated transmembrane protein 1) from Rattus norvegicus.
OSTM1 is a homologue of LOC100002205 (similar to osteopetrosis associated transmembrane protein 1) from Danio rerio.
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