A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
نویسندگان
چکیده
منابع مشابه
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. Clinical severity is variable, ranging from death in utero (due to severe rickets) to pathologic fractures first presenting in adult life. Affected siblings, however, are phenotypically similar. Severe forms of...
متن کاملCommon Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India
Background: Obesity is a very common disorder resulting from an imbalance between food intake and energy expenditure, and it has a substantial impact on the development of chronic diseases. The aim of this study was to examine the association of INSIG2 (rs7566605) gene polymorphism with obesity and obesity associated phenotypes in North Indian subjects. Methods: The variants were investig...
متن کاملMissense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
Hypophosphatasia is an inborn error of metabolism that is characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) in serum and in tissues. Clinical severity is extremely variable, ranging from death in utero to pathologic fractures first presenting in adulthood. Severe forms of the dis...
متن کاملPyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is ofte...
متن کاملAlkaline Phosphatase in Serum is a Marker of Human Toxocariasis
Background: The present study was carried out on the human population of Kashmir valley to evaluate the status of the biochemical parameters of infected population. Materials and Methods: Blood samples were collected from 514 individuals, 298 (57.97%) males and 216 (42.02%) females, 187 (36.38%) were found sero-positive for human toxocariasis. Results: Alkaline phosphatase level was found highe...
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: Scientific Reports
سال: 2019
ISSN: 2045-2322
DOI: 10.1038/s41598-018-37801-2