Gene/Protein Disease Symptom Drug Enzyme Compound
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We previously reported that retinoic acid shows a dose-dependent differential induction of various cardiac outflow anomalies: transposition of the great arteries is induced mainly by a high dose (70 mg/kg) and dextroposition of the aorta by a low dose (40-60 mg/kg; Yasui et al., 1995). We subsequently delineated the aberrant outflow tract septation process leading to the transposition (Yasui et al., 1997). The aim of the present study was to illustrate a spectrum of developmental abnormalities by examining mouse embryos treated with a low dose of retinoic acid and comparing them with embryos administered a high dose. We employed in situ observation on live embryos to discern the blood flow streams and scanning electron microscopy to clarify the internal structure. The embryos treated with a low dose of retinoic acid showed several basic phenotypes common to the high dose retinoic acid group, although variable and relatively mild, such as hypoplasia and dysplasia in the proximal outflow cushions, decreased counter-clockwise rotation in the distal outflow tract, and deviation of the edges of the developing outflow septum. In typical cases, the right-sided edge of the developing outflow septum shifted ventrally by various degrees, allowing for the right ventricle-to-aorta pathway, whereas the left-sided edge preserved the continuity with the interventricular septum, as in the normal embryo. These findings indicate that morphogenesis of dextroposition of the aorta and transposition of the great arteries are not only distinct but also show some basic pathways in common.
Anat Rec 1999 02 01
PMID:Developmental spectrum of cardiac outflow tract anomalies encompassing transposition of the great arteries and dextroposition of the aorta: pathogenic effect of extrinsic retinoic acid in the mouse embryo. 997 10

The biomechanics of the hip joint provide an understanding of the development, evolution, and treatment of many disabling conditions of this joint. The available methods of biomechanical analysis include in vitro studies, in vivo studies, and theoretical mathematic analyses. The information obtained from these analyses have enabled the design of therapeutic programs to alleviate the symptoms of, and possibly delay the progression of, hip disease. The design of surgical procedures has been based on alterations of the biomechanics of the hip. These procedures have proven useful for treating pathologies such as osteoarthritis, hip dysplasia, and hip fractures. The study of biomechanics and biomaterials are integral to the current success of total hip arthroplasty in achieving pain relief and functional restoration.
Anat Rec 1999 06 15
PMID:Biomechanics of total hip arthroplasty. 1039 84

This paper describes the clinical and diagnostic features of 20 cases of scapulohumeral osteoarthritis in Shetland ponies, miniature horses and falabella ponies. The history and clinical signs were similar in all the cases Radiographically they all had consistent changes which consisted predominantly of articular osteophytes and periarticular enthesiophytes. Six of the cases had radiographic evidence of dysplasia of the scapulohumeral joint, although it was uncertain whether this was a primary or a secondary finding. No specific treatment appeared to be advantageous. At follow up, six of the ponies had to be euthanased owing to continuing severe lameness; the other 14 ponies remained lame, but were maintained at pasture by the occasional use of oral non-steroidal anti-inflammatory drugs. No definitive aetiology for the condition was identified, but it is proposed that an underlying dysplasia, or lack of collateral support may predispose the scapulohumeral joint of miniature horse breeds to the disease.
Vet Rec 2001 Feb 10
PMID:Scapulohumeral osteoarthritis in 20 Shetland ponies, miniature horses and falabella ponies. 1125 23

A new hereditary disease characterised by renal failure, poor growth and long hooves in Japanese Black cattle (wagyu) has been recognised in a region of central Japan since 1990. The number of calves affected has increased gradually, with the incidence reaching 17 of 485 (3.51 per cent) in 1995. Almost all the calves were slightly undersized at birth, and repeatedly had diarrhoea during the neonatal period. They began to show signs of growth retardation with proportional body and elongation of the hooves from about two to five months of age, but they had an almost normal or only slightly decreased appetite. The concentrations of urea nitrogen, creatinine and inorganic phosphorus in serum were high, and the affected calves excreted diluted urine frequently. Among 25 cases, the urine of 21 contained occult blood, 24 contained protein and two contained glucose. In 29 calves observed for 30 to 130 days, the course of the disease varied; in 21 of them it remained unchanged, six became gradually worse and two became severely debilitated and died. The disease was diagnosed as renal tubular dysplasia by histopathological examination.
Vet Rec 2001 Jul 28
PMID:Clinical features of renal tubular dysplasia, a new hereditary disease in Japanese Black cattle. 1150 3

Diagnostic imaging, including computed tomography, of a two-month-old foal with renal failure indicated that its right kidney was probably absent and that its left kidney was abnormal in shape. The foal was stabilised and released, but three days later its clinical signs recurred. Postmortem examination revealed renal hypoplasia and dysplasia, the first reported case of this condition in an American miniature horse.
Vet Rec 2001 Aug 18
PMID:Renal hypoplasia and dysplasia in an American miniature foal. 1154 57

Thirty-eight dogs with hip dysplasia were studied to evaluate the use of gold wire implants at acupuncture points around the hip joints. They were assigned at random into two groups of 19. In the treated group, gold wire was inserted through hypodermic needles at electrically found acupuncture points around both hips. In the control group, the areas were prepared in the same way but had only the skin pierced at sites which were not acupuncture points, with a needle of the same size as that used in the treated group. Over a period of six months the dogs were studied repeatedly by two veterinarians and by the dogs' owners who were unaware of the treatments the dogs had received; they assessed the dogs' locomotion, hip function and signs of pain. Radiographs were taken at the beginning and end of the study. Although the data collected from both groups by the veterinarians and the owners showed a significant improvement of locomotion and reduction in signs of pain (P=0.036 for the veterinary evaluation and locomotion and P=0.0001 and P=0.0034 for the owners' evaluation of locomotion and pain, respectively), there were no statistically significant differences between the treated and control groups (P=0.19 and P=0.41, P=0.24, respectively).
Vet Rec 2001 Oct 13
PMID:Double-blind evaluation of implants of gold wire at acupuncture points in the dog as a treatment for osteoarthritis induced by hip dysplasia. 1168 48

The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the short stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic short statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human stature. However, in this communication we report a normal statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human stature to be more complex than envisaged previously. The presence of normal stature in our patient rather than tall stature is likely to represent the natural variation seen in patients with transcription factor disorders.
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PMID:Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome. 1203 92

Pathological studies were conducted on 91 Japanese Black cattle with a hereditary disease which induced growth retardation, long hooves and renal failure. In calves one to two months old, no gross abnormalities were observed in the kidneys, but microscopical examinations revealed immature epithelia which were arranged irregularly and not attached to the basement membranes in some proximal tubules. In animals three to 36 months old, the kidneys had shrunk perceptibly and had grey-white radial streaks; microscopically they showed severe interstitial fibrosis with round-cell infiltration in the outer zone of the medulla and cortex, and reductions in the numbers of glomeruli and tubules. In the fibrotic areas there were immature epithelia with an irregular arrangement, and the basement membrane of the tubules was thickened. It was concluded that renal tubular dysplasia was the primary lesion of the disease, and that interstitial fibrosis and reductions in the numbers of nephrons were secondary lesions.
Vet Rec 2002 May 18
PMID:Pathological changes of renal tubular dysplasia in Japanese black cattle. 1204 87

The concentrations of magnesium and calcium in the serum and urine and their rates of clearance were determined in cattle with renal tubular dysplasia, an autosomal recessive hereditary disease associated with a deletion of the paracellin-1 gene in Japanese Black cattle. There were no significant differences in the serum or urine magnesium concentrations between normal cattle and cattle which were heterozygous or homozygous for the condition. Serum calcium concentrations tended to be lower in the homozygous cattle, and the serum creatinine and urea nitrogen concentrations were significantly higher in the homozygous cattle. The ratio of magnesium:creatinine and the fractional excretion of magnesium were higher in cattle with the disease than in normal cattle. There were no significant differences in urine calcium concentration, the calcium:creatinine ratio, and fractional excretion of calcium between normal cattle and cattle which were homozygous or heterozygous for the condition. The creatinine clearance was significantly lower in the homozygous cattle than in normal cattle. The clearance, excretion rate, reabsorption rate and reabsorption rate:clearance ratio of magnesium in cattle with renal tubular dysplasia were significantly lower than in normal cattle. The clearance rate and reabsorption rate of calcium were also significantly lower in the affected cattle, but the excretion rate and reabsorption rate:clearance of calcium were not different between the normal cattle and the cattle homozygous for the condition. In cattle with the condition the rate of reabsorption of magnesium by the kidneys was low, but the rate of reabsorption of calcium was normal.
Vet Rec 2002 Sep 28
PMID:Renal reabsorption of magnesium and calcium by cattle with renal tubular dysplasia. 1240 19

Selective breeding policies for preventing or controlling hip dysplasia require accurate estimates of parameters in offspring/parental relationships and estimates of heritability. Recent literature includes some major studies of pedigree breeds of dog, using data derived from the hip dysplasia screening scheme set up by the British Veterinary Association. These publications have not taken into account the age of the animals when they were screened. This study analyses the data from 29,213 labrador retrievers whose ages were known when they screened. The mean hip score of the dogs was positively and significantly correlated with their age. If this relationship with age is ignored, various offspring/parental relationships and the estimates of heritability are likely to be distorted.
Vet Rec 2003 Jan 11
PMID:Hip dysplasia in labrador retrievers: the effects of age at scoring. 1257 47


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