Dentoalveolar Defects in the Hyp Mouse Model of X-linked Hypophosphatemia
نویسندگان
چکیده
منابع مشابه
X-linked hypophosphatemia with enthesopathy.
Pal R, Bhansali A. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220920 Description A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum. Investigations showed corrected s...
متن کاملX-linked hypophosphatemia: dental and histologic findings.
The recurrent spontaneous formation of abscesses affecting multiple noncarious primary as well as permanent teeth is the principle clinical dental feature in cases of hypophosphatemia, a condition inherited through the X chromosome. Patients often have high pulp horns, large pulp chambers and dentinal clefts. We report a case of hypophosphatemic vitamin D-resistant rickets in a patient who repo...
متن کاملThe Gy mutation: another cause of X-linked hypophosphatemia in mouse.
An X-linked dominant mutation (gyro, gene symbol Gy) in the laboratory mouse causes hypophosphatemia, rickets/osteomalacia, circling behavior, inner ear abnormalities, and sterility in males and a milder phenotype in females. Gy maps closely (crossover value 0.4-0.8%) to another X-linked gene (Hyp) that also causes hypophosphatemia in the mouse. Gy and Hyp genes have similar quantitative expres...
متن کاملYALE CENTER FOR X-LINKED HYPOPHOSPHATEMIA Pilot & Feasibility Program A study of enthesopathy in X-linked hypophosphatemia
Dr. Macica states: “The formation of enthesophytes was our focus, with a major emphasis on characterizing the cellular changes that occur in enthesophyte formation using the murine model of XLH, Hyp mice. We have found that mineralization, while thought to originate from bone, is actually due to both an expansion of fibrocartilage cells that express the FGFR3 receptor and an increase in alkalin...
متن کاملPathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem.
Proximal tubular reabsorption of phosphate is a major determinant of the serum phosphate concentration (1). The presence of many disease states associated with renal phosphate wasting supports the existence of several distinct physiological regulators of renal phosphate transport. Primary and secondary hyperparathyroidism, as well as the hypercalcemia of malignancy syndrome, illustrate the impo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Dental Research
سال: 2020
ISSN: 0022-0345,1544-0591
DOI: 10.1177/0022034520901719