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Osteopetrosis is a disease in which diffuse sclerosis of the entire skeleton results from an imbalance between the processes of bone formation and bone resorption. The grey lethal is the most severely affected of the three mouse mutants which have been described and its osteopetrosis is transmitted as a simple autosomal recessive gene. Affected mice develop a grey coat at 8-10 days of age and die before one month of age. Recently we (Hollinshead and Schneider, '73) reported that grey lethal mice could be identified at birth because the apex of their lower incisors lies anterior to the molar region in the mandible. In this study we show that it is possible to identify affected fetuses from day 18 of gestation using the same and other histologic criteria in examining their teeth.
Anat Rec 1975 Jul
PMID:Prenatal development of the grey lethal mouse. I. Teeth and jaws. 115 1

Two hydatidiform moles from Holstein cattle are reported. One was observed after the birth of a healthy calf and the second following abortion of a fetus with osteopetrosis.
Vet Rec 1980 Oct 25
PMID:Hydatidiform moles in Holstein cattle. 745 83

Previous analyses have shown that secondarily aquatic tetrapods, including whales, exhibit osteological adaptations to life in water as part of their complex buoyancy control systems. These structural specializations of bone span hyperostosis through osteoporosis. The past 15 years of paleontological effort has provided an unprecedented opportunity to examine the osteological transformation of whales as they make their transition to an obligate aquatic lifestyle over a 10-million-year period. It is hypothesized that whales manifest their osteological specialization in the same manner as extant semiaquatic and fully aquatic mammals. This study presents and analysis of the microstructural features of bone in early and late archaic cetaceans, and in a comparative sample of modern terrestrial, semiaquatic, and aquatic mammals. Bone histology was examined from the ribs of 10 fossilized individuals representing five early cetacean families, including Pakicetidae, Ambulocetidae, Protocetidae, Remintonocetidae, and Basilosauridae. Comparisons were then made with rib histology from nine genera of extant mammals including: Odocoileus (deer), Bos (cow), Equus (horse), Canis (dog), Lutra (river otter), Enhydra (sea otter), Choeropsis (pygmy hippo), Trichechus (sea cow), and Delphinus (dolphin). Results show that the transition from terrestrial, to semiaquatic, to obligate aquatic locomotion in archaeocetes involved a radical shift in bone function achieved by means of profound changes at the microstructural level. A surprising finding was that microstructural change predates gross anatomical shift in archaeocetes associated with swimming. Histological analysis shows that high bone density is an aquatic specialization that provides static buoyancy control (ballast) for animals living in shallow water, while low bone density is associated with dynamic buoyancy control for animals living in deep water. Thus, there was a shift from the typical terrestrial form, to osteopetrosis and pachyosteosclerosis, and then to osteoporosis in the first quarter of cetacean evolutionary history.
Anat Rec (Hoboken) 2007 Jun
PMID:Sink or swim? Bone density as a mechanism for buoyancy control in early cetaceans. 1751 30

The maxillary sinus is universally described as a pyramidal-shaped cavity in the maxilla. Hypoplasia, which can occur unilaterally or bilaterally, is graded by the authors by the degree of failure of descent below the nasal floor in achieving its position adjacent to the posterior dentition in the adult. Unlike early studies using plain X-rays, which considered pneumatization into the zygomatic recess and dental alveolus as criteria, the authors have adopted the above-cited parameters based on computed tomography (CT) imaging, which reveals that even when smaller the sinus retains a pyramidal configuration, although truncated. Rarely, the sinus is excessively pneumatized in the nonpathologic state. Review of the literature failed to reveal a comprehensive study of the conditions that alter maxillary sinus volume and configuration. Based on a retrospective review of 6,000 high resolution CT scans of the paranasal sinuses, the types and relative incidences of these conditions have been determined, and a classification system proposed. The mixed-sex sample group (= 2,540) was comprised of nonpediatric (adolescent and adult) and was of a polyethnic composition. Results showed that enlargement of the sinus is uncommonly encountered, and is produced by air (pneumocele) and mucus (mucocele) entrapment, or by benign tumors which have arisen in the sinus or adjacent maxilla and have grown intracavitarily, with the sinus walls expanding and remodeling to accommodate them. Reduction in size and volume is more frequent. Heredo-familial syndromic conditions reduce sinus size by impaired facial growth centers, or obliteration by dense osteosclerosis. Irradiation for neoplastic disease in the pediatric population similarly, directly effect growth centers, or impairs pituitary function. Another iatrogenic cause, direct surgical intervention (Caldwell-Luc procedure) almost universally alters sinus volume and shape by osteoneogenesis. Midfacial fractures involving the sinus also produce distortion by sclerosis as well as by malpositioning of bone fragments. The principal systemic disorders, sickle cell anemia and osteopetrosis, which diffusely effect medullary bone, do so either through compensatory marrow proliferation or sclerotic new bone formation, thus serving to produce maxillary enlargement and sinus obliteration. The greatest source of maxillary sinus distortion and destruction are neoplasms. Malignant sinonasal and oral cavity tumors produce bony erosion of the sinus walls, whereas benign odontogenic cysts remain external to the sinuses and compress it as they enlarge. Most odontogenic tumors produce external compression and remodeling. Fibro-osseous disorders similarly produce size and shape distortions by external impingement. Although diverse developmental and pathological conditions influence maxillary sinus morphology, there is a limited range of biologic response.
Anat Rec (Hoboken) 2008 Nov
PMID:The development and pathologic processes that influence maxillary sinus pneumatization. 1895 96

Mussaurus patagonicus (Dinosauria: Sauropodomorpha) is a basal sauropodomorph from the Late Triassic of southern Argentina that is known from a large number of individuals, including juveniles, subadults, and adults. Here, we report on the occurrence of an unusual bone tissue in an individual of M. patagonicus. The rather atypical bone tissue is located within the femoral medullary cavity and also occurs within several erosion cavities of the midinner part of the cortex. This tissue is well vascularized and is composed of a matrix that consists of abundant and densely packed osteocyte lacunae. Although some features of this tissue resembles avian medullary bone, the histological features are distinctive and share more features with the pathological, reactive bone produced in extant birds in response to a retrovirus-induced disease (avian osteopetrosis). Here, we also discuss and provide histological features to effectively differentiate endosteally formed medullary bone from pathological avian osteopetrosis.
Anat Rec (Hoboken) 2014 Aug
PMID:Unusual endosteally formed bone tissue in a patagonian basal sauropodomorph dinosaur. 2486 50

ClC-7 is a 2Cl(-) /1H(+) -exchanger expressed at late endosomes and lysosomes, as well as the ruffled border of osteoclasts. ClC-7 deficiencies in mice and humans lead to impaired osteoclast function and therefore osteopetrosis. Failure of tooth eruption is also apparent in ClC-7 mutant animals, and this has been attributed to the osteoclast dysfunction and the subsequent defect in alveolar bone resorptive activity surrounding tooth roots. Ameloblasts also express ClC-7, and this study aims to determine the significance of ClC-7 in enamel formation by examining the dentitions of ClC-7 mutant mice. Micro-CT analysis revealed that the molar teeth of 3-week old ClC-7 mutant mice had no roots, and the incisors were smaller than their age-matched controls. Despite these notable developmental differences, the enamel and dentin densities of the mutant mice were comparable to those of the wild-type littermates. Scanning electron microscopy showed normal enamel crystallite and prismatic organization in the ClC-7 mutant mice, although the enamel was thinner (hypoplastic) than in controls. These results suggested that ClC-7 was not critical to enamel and dentin formation, and the observed tooth defects may be related more to a resulting alveolar bone phenotype. Micro-CT analysis also revealed abnormal features in the calvarial bones of the mutant mice. The cranial sutures in ClC-7 mutant mice remained open compared to the closed sutures seen in the control mice at 3 weeks. These data demonstrate that ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis.
Anat Rec (Hoboken) 2015 Aug
PMID:Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7. 2566 54

Morbidly obese, leptin-deficient ob/ob mice display low bone mass, mild osteoclast-rich osteopetrosis, and increased bone marrow adiposity. While partial leptin deficiency results in increased weight, the skeletal manifestations of partial leptin deficiency are less well defined. We therefore analyzed femora and lumbar vertebrae in growing (7-week-old) female C57BL/6 wildtype (WT) mice, partial leptin-deficient ob/+ mice, and leptin-deficient ob/ob mice. The bones were evaluated by dual energy absorptiometry, microcomputed tomography and histomorphometry. As expected, ob/+ mice were heavier, had more white adipose tissue, and lower serum leptin than WT mice, but were lighter and had less white adipose tissue than ob/ob mice. With a few exceptions, cancellous bone architecture, cell (osteoblast, osteoclast, and adipocyte), and dynamic measurements did not differ between WT and ob/+ mice. In contrast, compared to WT and ob/+ mice, ob/ob mice had lower cancellous bone volume fraction, and higher bone marrow adiposity in the femur metaphysis, and higher cancellous bone volume fraction in lumbar vertebra. Paradoxically, ob/+ mice had greater femoral bone volume than either WT or ob/ob mice. There was a positive correlation between body weight and femur volume in all three genotypes. However, the positive effect of weight on bone occurred with lower body weight in leptin-producing mice. The paradoxical differences in bone size among WT, ob/+, and ob/ob mice may be explained if leptin, in addition to stimulating bone growth and cancellous bone turnover, acts to lower the set-point at which increased body weight leads to a commensurate increase in bone size.
Anat Rec (Hoboken) 2015 Dec
PMID:Paradoxical effects of partial leptin deficiency on bone in growing female mice. 2637 Sep 12