osteochondrodysplasias/phosphatase

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Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

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Neonatal lethal skeletal dysplasias are rare and typically involve thoracic malformations and severe limb shortening. We report on a newborn boy manifesting an osteochondrodysplasia associated with fatal respiratory insufficiency who had normal lung volumes and extremity lengths. His disorder

Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase.

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Alkaline phosphatase is a commonly measured enzyme in clinical practice. Normal, excessively elevated and depressed serum or plasma levels have clinical value in the approach to the differential diagnosis of skeletal dysplasias associated with osteopenia in the newborn period. Two cases are

Effects of ascorbic acid and 1,25-dihydroxycholecalciferol on alkaline phosphatase and tibial dyschondroplasia in broiler chickens.

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1. The effects of graded amounts of dietary ascorbic acid with or without 10 micrograms/kg dietary 1,25-dihydroxycholecalciferol on performance, blood and bone variables were measured in broiler chicks. 2. 1,25-Dihydroxycholecalciferol prevented the tibial dyschondroplasia and rickets caused by

Osteopontin gene expression and alkaline phosphatase activity in avian tibial dyschondroplasia.

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Osteopontin (OPN) gene expression and alkaline phosphatase activity were evaluated in the epiphyseal growth plates of normal chickens and in diet-induced tibial dyschdroplasia (TD)-afflicted chickens. In the normal growth plate, OPN gene was expressed by a) cells of the subperichondrial zone

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

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Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5,

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

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Background: Studies exploring molecular mechanisms underlying congenital skeletal disorders have revealed novel regulators of skeletal homeostasis and shown protein glycosylation to play an important role.

Role of dietary calcium and available phosphorus in the aetiology of tibial dyschondroplasia in growing turkeys.
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1. Large White male turkeys from a heavy commercial male-line were fed 16 diets containing 4 concentrations of calcium (6, 10, 14 and 18 g/kg) and available phosphorus (3, 5, 7 and 9 g/kg) in a 4 x 4 factorial experiment. There were three replicates (pens) of each treatment and the skeletal health,

Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia.
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Vascular endothelial growth factor (VEGF) is an essential mediator of angiogenesis and endochondral ossification. To explore the role of VEGF in avian diseases such as tibial dyschondroplasia (TD), a typical disorder of endochondral ossification, we expressed and identified recombinant chicken VEGF

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.
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Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and

The effect of dietary 1,25-dihydroxycholecalciferol in preventing tibial dyschondroplasia in broilers fed on diets imbalanced in calcium and phosphorus.
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Three experiments were carried out to investigate the effects of supplemental dietary 1,25-dihydroxycholecalciferol (1,25(OH)2cholecalciferol) and a low dietary Ca:P ratio on the occurrence of tibial dyschondroplasia (TD) in 3-week-old broilers. Histopathology was used to diagnose TD. In the first

The development of tibial dyschondroplasia in broiler chickens.
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Two strains of broiler chickens selected for a high and a low incidence of tibial dyschondroplasia were fed a standard broiler starter ration with and without added chloride. Development of tibial dyschondroplasia was studied by radiography and serial necropsies. Lesions of tibial dyschondroplasia

Gene expression during cartilage differentiation in turkey tibial dyschondroplasia, evaluated by in situ hybridization.
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Gene expression and alkaline phosphatase (AP) activity, associated with chondrocyte differentiation, were evaluated in the epiphyses of normal and tibial dyschondroplasia (TD)-afflicted turkeys. In the normal turkey growth plate (GP), osteopontin (OPN) and type X collagen genes were expressed by the

Parathyroid receptor gene expression by epiphyseal growth plates in rickets and tibial dyschondroplasia.
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PTH/PTHrP receptor gene expression was evaluated in situ in avian epiphyseal growth plates taken from normal, rachitic and tibial dyschondroplasia (TD) afflicted chicks induced by thiram or by genetic selection. In the normal growth plates, PTH/PTHrP receptor gene expression was localized to the

Van Buchem disease.
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Van Buchem disease is a hereditary sclerosing dysplasia of bone. Both dominant and autosomal recessive modes of transmission have been described. The dominant form tends to be a benign disorder and symptoms are usually confined to those associated with the enlargement of the jaw. The recessive forms

Gene expression and tibial dyschondroplasia.
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Tibial dyschondroplasia (TD) is a skeletal deformity associated with rapid growth in a number of avian species. The disease is the result of a disruption in the cascade of events that occur in the epiphyseal growth plate. Whereas the incidence of TD is susceptible to genetic selection, no specific

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osteochondrodysplasias/phosphatase

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase.

Effects of ascorbic acid and 1,25-dihydroxycholecalciferol on alkaline phosphatase and tibial dyschondroplasia in broiler chickens.

Osteopontin gene expression and alkaline phosphatase activity in avian tibial dyschondroplasia.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

Role of dietary calcium and available phosphorus in the aetiology of tibial dyschondroplasia in growing turkeys.

Expression and identification of recombinant chicken vascular endothelial growth factor in Pichia pastoris and its role in the pathogenesis of tibial dyschondroplasia.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

The effect of dietary 1,25-dihydroxycholecalciferol in preventing tibial dyschondroplasia in broilers fed on diets imbalanced in calcium and phosphorus.

The development of tibial dyschondroplasia in broiler chickens.

Gene expression during cartilage differentiation in turkey tibial dyschondroplasia, evaluated by in situ hybridization.

Parathyroid receptor gene expression by epiphyseal growth plates in rickets and tibial dyschondroplasia.

Van Buchem disease.

Gene expression and tibial dyschondroplasia.

Најкомплетната база на податоци за лековити билки поддржана од науката