Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2056
Abstract: Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, intends to inform… read more here.
Keywords: carrier; alpl; management; alkaline phosphatase ... See more keywords
Mutational and biochemical findings in adults with persistent hypophosphatasemia
Sign Up to like & getrecommendations! Published in 2017 at "Osteoporosis International"
DOI: 10.1007/s00198-017-4035-y
Abstract: SummaryA majority of adults with persistently low serum alkaline phosphatase values carry a pathogenic or likely pathogenic variant in the ALPL gene and also have elevated alkaline phosphatase substrate values in serum and urine. These… read more here.
Keywords: alpl variants; alpl; persistent hypophosphatasemia; adults persistent ... See more keywords
ALPL regulates the aggressive potential of high grade serous ovarian cancer cells via a non-canonical WNT pathway.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.04.016
Abstract: The ALPL gene is linked to hypophosphatasia, a rare genetic disease. Owing to the inverse relationships between ALPL expression and both the International Federation of Gynecology and Obstetrics (FIGO) stages and histological grades assigned to… read more here.
Keywords: hgsoc; serous ovarian; alpl; wnt ... See more keywords