ALPL-1 is a target for chimeric antigen receptor therapy in osteosarcoma [PDF]
Nature Communications, 2023 Osteosarcoma (OS) remains a dismal malignancy in children and young adults, with poor outcome for metastatic and recurrent disease. Immunotherapies in OS are not as promising as in some other cancer types due to intra-tumor heterogeneity and considerable
Nadia Mensali +26 more
doaj +13 more sources
The Global ALPL gene variant classification project: Dedicated to deciphering variants [PDF]
Bone, 2023 Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care ...
Mariam R, Farman +20 more
core +5 more sources
Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases
Children, 2022 Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota +3 more
doaj +2 more sources
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkaline phosphatase (ALP). Scarce evidence exists about features that should signal the potential association between hypophosphatasaemia and HPP in ...
C. Tornero +11 more
doaj +2 more sources
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype
Bone, 2013 Hypophosphatasia (HPP) is an inherited disorder of mineral metabolism caused by mutations in ALPL, encoding tissue non-specific alkaline phosphatase (TNAP). Here, we report the molecular findings from monozygotic twins, clinically diagnosed with tooth-specific odontohypophosphatasia (odonto-HPP). Sequencing of ALPL identified two genetic alterations in
Martins, Luciane +9 more
core +5 more sources
Childhood Hypophosphatasia With Homozygous Mutation of ALPL
Endocrine Practice, 2014 To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.A 13-year-old male presented with chronic left knee pain.
Supamit, Ukarapong +3 more
openaire +3 more sources
The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population
Urolithiasis, 2022 Urinary system stones have a complex pathophysiology affected by environmental and genetic factors. To confirm whether ALPL gene polymorphisms are an effective universal risk factor for the development of urolithiasis, we aimed to investigate ALPL gene polymorphism in Turkish population. Our study was carried out with 187 patients with urolithiasis and
Altundag İbrahim +5 more
openaire +4 more sources
Stem Cell Research & TherapyBackground Alternative splicing not only expands the genetic encoding of genes but also determines cellular activities. This study aimed to elucidate the regulation mechanism and biological functions of lincRNA-ASAO in the process of odontogenesis ...
Fuchun Fang +10 more
doaj +2 more sources
Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia [PDF]
Frontiers in Endocrinology, 2022 Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher ...
Raquel Sanabria-de la Torre +29 more
doaj +2 more sources
The effect of hormone replacement therapy on the expression of the alkaline phosphatase gene (ALPL) within the mucosal epithelium of the cheek and in peripheral blood lymphocytes [PDF]
Current Issues in Pharmacy and Medical Sciences, 2014 In adult life, proper bone metabolism requires efficient regulation of bone formation and resorption processes. Bone turnover markers allow for assessing the rate of bone formation and resorption processes.
Rahnama Mansur +4 more
doaj +4 more sources