Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase [PDF]
Journal of Bone and Mineral Research, 2020 James Prendergast +2 more
exaly +2 more sources
Infantile hypophosphatasia caused by compound heterozygous variants in the <i>ALPL</i> gene: a case report. [PDF]
Am J Transl ResWu Q +5 more
europepmc +2 more sources
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene [PDF]
Scientific Reports, 2019 Real Pj +2 more
exaly +2 more sources
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants [PDF]
Journal of Bone and Mineral ResearchGabriel Angel Martos-Moreno +2 more
exaly +2 more sources
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL) [PDF]
Journal of the Endocrine Society, 2020 Abstract Context Hypophosphatasia (HPP) is a syndrome marked by low serum alkaline phosphatase (AlkP) activity as well as musculoskeletal and/or dental disease. While the majority of subjects with HPP carry a pathogenic variant in the ALPL gene or its regulatory regions, individual pathogenic variants
Daniel R Tilden +7 more
openaire +3 more sources
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2018 Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or dental disease have undiagnosed HPP, caused by ALPL variants.Our objective was to discover the prevalence of these gene ...
Kathryn M, Dahir +10 more
openaire +2 more sources
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore +5 more
wiley +1 more source
Efficacy, safety and cost‐effectiveness of CAR‐T therapy
British Journal of Clinical Pharmacology, EarlyView.CAR T‐cells demonstrate high efficacy in blood cancers, including ALL, MM and DLBCL. Innovations target solid tumours despite challenges such as antigen escape. Combination therapies enhance the delivery and infiltration of CAR T cells. Toxicity, cost and resistance remain major barriers to clinical use.
Emina Karahmet Sher +7 more
wiley +1 more source
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia [PDF]
Bioscience Reports, 2018 Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP.
Xu, Lijun +6 more
openaire +2 more sources