Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The most commonly encountered nutritional bone disease is nutritional secondary hyperparathyroidism. This is primarily of importance in the dog but is occasionally seen in kittens, particularly of the Siamese breed, and is often associated with the feeding of owner compiled, meat-rich diets. Classic rickets is now a rare clinical entity. Hypertrophic osteodystrophy is regularly seen in the larger breeds of dog and the aetiology remains obscure. Hypervitaminosis A associated with liver-rich diets is often encountered in the cat. Hypovitaminosis A has been described but its true clinical significance is unknown.
Vet Rec 1976 Apr 17
PMID:Nutrition and bone disease in the dog and cat. 77 53

The threats posed by parapoxvirus infection, metabolic bone disease and coccidiosis to the reintroduction of red squirrels into Thetford Chase were investigated by making blood biochemical, radiological and parasitological examinations on the squirrels before they were released and on resident squirrels. Red squirrels found dead in Thetford Chase were examined post mortem by parasitological, electron microscopical and radiological techniques. Parapoxvirus infection was the probable cause of death of two red squirrels. Parapoxvirus infection may be a significant threat to remnant populations of red squirrels in England, and to the success of conservation measures.
Vet Rec 1995 Oct 07
PMID:An investigation into the health and welfare of red squirrels, Sciurus vulgaris, involved in reintroduction studies. 857 48

The aim of this study was to characterize the spectrum of 13-glucocerebrosidase gene mutations in Czech and Slovak Gaucher patients and to study genotype/phenotype associations. We have analyzed fifty-eight chromosomes from twenty-six type I, two type 2, and one type 3 13-glucocerebrosidase deficient subjects by direct sequencing of PCR products. Fifty-eight mutant alleles were identified. Seventy-eight percent of mutant alleles carried common mutations (N370S 28/58, L444P 11/58, recNciI 5/58, and IVS2(+1)A 1/58), the remaining twenty-two percent carried rare and private mutations (1263del55, l326insT, S196P, rec(g4889-6506), 2O3delC, G202E, F216Y, R257X, R12OW, R359Q, S1O7L, L444P + V460V, and D409H + T369M). Six of these alleles have not been previously described (rec(g4889-6506), 1326insT, SI96P. G202E, D409H + T369M, and L444P + V460V). The most common genotypes were N370S/L444P (8/29). N370S/recNciI (5/29), and N370S/N370S (2/29). The spectrum of the mutations is characteristic for a Caucasian (non-Jewish) population, with N370S, L444P and recNciI being the most prevalent mutations. The absence of the mutation 84insG that is frequently associated with severe bone disease may have contributed to the low incidence of severe bone disease in Czech and Slovak Gaucher subjects.
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PMID:Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. 1074 24

Dead and sick grey heron chicks with multiple fractures of the leg and wing bones and/or bone deformities have been reported at Besthorpe Nature Reserve heronry in north Nottinghamshire since 1996. Forty-five grey heron carcases were examined, 35 from the Besthorpe colony and 10 from other colonies where bone disease was not known to occur. On the basis of the results of radiological studies, postmortem examinations, peripheral quantitative computed tomography scanning and four-point bending tests, it was concluded that the skeletal abnormalities were probably due to metabolic bone disease.
Vet Rec 2006 Oct 14
PMID:Skeletal deformities and mortality in grey herons (Ardea cinerea) at Besthorpe heronry, Nottinghamshire. 1704 Oct 65

The records of 666 casualty collared doves examined at a wildlife hospital in south-west England over a period of five years were reviewed. Signs of metabolic bone disease were recorded in 51.2 per cent of the juvenile birds but in only 9.6 per cent of the adults. The incidence of the condition was highest between December and February and decreased almost to zero between June and August. Histological lesions in 11 of the juvenile doves were consistent with vitamin D deficiency, possibly as a result of inadequate exposure to uvb light during the short winter days.
Vet Rec 2007 Jan 20
PMID:Metabolic bone disease in wild collared doves (Streptopelia decaocto). 1723 57

Chronic renal impairment can lead to bone deterioration and abnormal bone morphology, but whether hydronephrosis is associated with bone loss remains unclear. Herein, we aimed to use computer-assisted bone histomorphometric technique to investigate microstructural bone changes in Imprinting Control Region (ICR) mice with a spontaneous mutation that was associated with bilateral nonobstructive hydronephrosis (ICR/Mlac-hydro). The results showed that 8-week-old ICR/Mlac-hydro mice manifested decreases in trabecular bone number and thickness, and an increased trabecular separation, thereby leading to a reduction in trabecular bone volume compared with the wild-type mice. Furthermore, histomorphometric parameters related to both bone resorption and formation, that is, eroded surface, osteoclast surface, and osteoblast surface, were much lower in ICR/Mlac-hydro mice than in the wild type. A decrease in moment of inertia was found in ICR/Mlac-hydro mice, indicating a decrease in bone strength. In conclusion, ICR/Mlac-hydro mice exhibited trabecular bone loss, presumably caused by marked decreases in both osteoblast and osteoclast activities, which together reflected abnormally low bone turnover. Thus, this mouse strain appeared to be a valuable model for studying the hydronephrosis-associated bone disease.
Anat Rec (Hoboken) 2014 Feb
PMID:Defective bone microstructure in hydronephrotic mice: a histomorphometric study in ICR/Mlac-hydro mice. 2422 94

Cystic fibrosis (CF) is the most common genetic disease within populations with European ancestry and affects approximately 60,000 individuals living in North America and Europe. With recent medical advancement, the life span of CF patients has been extended by decades and bone disease has been observed as a common complication of long-term survivors. In addition to bone disease and associated bone fracturing, living CF patients have a unique etiology of chronic sinusitis, which manifests as a medial bulge in the lateral walls of the nasal aperture, distinct from non-CF chronic sinusitis. We suggest that available data from medical literature is sufficient evidence to indicate that CF can be identified during skeletal analysis, but future work is needed to quantify the sensitivity of the lesions for confirming a CF diagnosis.
Anat Rec (Hoboken) 2020 Dec 05
PMID:Can we identify cystic fibrosis (CF) from skeletal remains?: A proposed differential diagnosis. 3327 45