Bone And Bones Abnormalities
Mostrando 1-12 de 19 artigos, teses e dissertações.
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1. Avaliação clínico-laboratorial de pacientes com síndrome de Kabuki / Clinical and laboratorial evaluation of patients with Kabuki syndrome
INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to
Publicado em: 2009
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2. Rastreamento de mutações nos genes PITX2, FOXC1 e GJA1 em pacientes com sindrome de Axenfeld-Rieger associada a glaucoma
Axenfeld-Rieger Syndrome (ARS) is arare disorder, usually transmitted in an autosomal dominant pattem characterized by anterior segment dysgenesis and often associated with developmental glaucoma. In addition to the ocular changes observed in ARS, syndromic features can also occur, such as facial bone defects, teeth anomalies and peri-umbilical skin involuti
Publicado em: 2005
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3. Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia (CMD) is a monogenic human disorder characterized by thickening of craniofacial bones and flaring metaphyses of long bones. Mutations for autosomal dominant CMD have been identified in the progressive ankylosis gene ANKH. Previous studies of Ank loss-of-function models, Anknull/null and Ankank/ank mice, suggest that Ank plays a ro
Amer Soc Bone & Mineral Res..
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4. Remodelling of bone and bones: growth of normal and transplanted caudal vertebrae.
Changes in the rate of growth, shape and structure of the 8th, 16th and 22nd caudal vertebrae of 4 and 24-27 days old Sprague-Dawley rats were studied in situ and in three different non-functional transplantation sites for 12 weeks. With increasing size, maturity and age the three vertebrae showed progressively decreasing growth, changes in shape and structu
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5. The immune regulatory protein B7-H3 promotes osteoblast differentiation and bone mineralization
B7-H3, a member of the B7 family of the Ig superfamily proteins, is expressed on the surface of the antigen-presenting cells and down-regulates T cell functions by engaging an unknown counterreceptor on T cells. Although B7-H3 is ubiquitously expressed, its potential nonimmune functions have not been addressed. We found that B7-H3 is highly expressed in deve
National Academy of Sciences.
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6. Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development
Parathyroid hormone (PTH) and parathyroid hormone–related peptide (PTHrP) bind to and activate the same PTH/PTHrP receptor. Deletion of either the PTHrP gene or the PTH/PTHrP receptor gene leads to acceleration of differentiation of growth plate chondrocytes. To explore further the functional relationships of PTHrP and the PTH/PTHrP receptor, bones of knoc
American Society for Clinical Investigation.
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7. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
Osteoblasts mineralize bone matrix by promoting hydroxyapatite crystal formation and growth in the interior of membrane-limited matrix vesicles (MVs) and by propagating the crystals onto the collagenous extracellular matrix. Two osteoblast proteins, tissue-nonspecific alkaline phosphatase (TNAP) and plasma cell membrane glycoprotein-1 (PC-1) are involved in
The National Academy of Sciences.
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8. Glycosaminoglycan-Mediated Loss of Cathepsin K Collagenolytic Activity in MPS I Contributes to Osteoclast and Growth Plate Abnormalities
Mucopolysaccharidoses are a group of lysosomal storage diseases characterized by the build-up of glycosaminoglycans (GAGs) and severe skeletal abnormalities. As GAGs can regulate the collagenolytic activity of the major osteoclastic protease cathepsin K, we investigated the presence and activity of cathepsin K and its co-localization with GAGs in mucopolysac
American Society for Investigative Pathology.
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9. The surgical treatment of fibrous dysplasia. With emphasis on recent contributions from cranio-maxillo-facial surgery.
Fibrous dysplasia is a congenital, metabolic, nonfamilial disturbance that occurs in one or more bones, at times in association with skin pigmentations or endocrine abnormalities. The authors report on a large personal series of 23 patients with fibrous dysplasia involving the craniofacial skeleton. The etiology, clinical findings, pathology, and differentia
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10. Deletion of the GATA Domain of TRPS1 Causes an Absence of Facial Hair and Provides New Insights into the Bone Disorder in Inherited Tricho-Rhino-Phalangeal Syndromes
GATA transcription factors mediate cell differentiation in diverse tissues, and their dysfunction is associated with certain congenital human disorders. The six classical vertebrate GATA proteins, GATA-1 to GATA-6, are highly homologous, bear two tandem zinc fingers of the C4 (GATA) type, and activate transcription. TRPS1, the only other vertebrate protein w
American Society for Microbiology.
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11. Various enzyme activities in muscle and other organs of dystrophic mice.
To elucidate the metabolic abnormality of musclar dystrophy, 27 kinds of enzyme activity in various organs of control and dystrophic mice were examined. The organs examined included muscle, bone, heart, testis, uterus, spleen, thymus, submaxillary gland, stomach, pancreas, liver, kidney, brain, and lung. The activities of 14 different aminopeptidases, 5 endo
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12. Skeletal overgrowth in transgenic mice that overexpress brain natriuretic peptide
Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. Natriuretic peptides organize a family of three structurally related peptides: atrial natriuretic peptide, brain natriuretic p
The National Academy of Sciences.