| Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene. | Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
Martínez-Heredia L, Muñoz-Torres M, Sanabria-de la Torre R, Jiménez-Ortas Á, Andújar-Vera F, González-Cejudo T, Contreras-Bolívar V, González-Salvatierra S, Gómez-Vida JM, García-Fontana C, García-Fontana B., Free PMC Article | 01/30/2024 |
| Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant. | Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P, Lapresta C, Martínez García M, Ochoa J, Sienes Bailo P, Acha Pérez J, Beltrán Audera J, González-Roca E. | 09/21/2023 |
| Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway. | Promotion effect of FGF23 on osteopenia in congenital scoliosis through FGFr3/TNAP/OPN pathway.
Zhang H, Xiang G, Li J, He S, Wang Y, Deng A, Wang Y, Guo C., Free PMC Article | 06/23/2023 |
| Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis. | Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis.
Kim TH, Park SY, Shin JH, Lee S, Joo KB, Koo BS., Free PMC Article | 06/13/2023 |
| Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity. | Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity.
Motte-Signoret E, Jlassi M, Lecoq L, Wachter PY, Durandy A, Boileau P. | 05/12/2023 |
| Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. | Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM, Sagaser KG, Lawson CS, Hertenstein C, Jachens A, Forster KR, Miller KA, Jelin AC, Blakemore KJ, Hoover-Fong J., Free PMC Article | 01/21/2023 |
| The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population. | The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population.
İbrahim A, Esra GT, Burcu GY, Burhanettin Y, Emrah Y, Şahin Ç. | 01/11/2023 |
| A new perspective on the function of Tissue Non-Specific Alkaline Phosphatase: from bone mineralization to intra-cellular lipid accumulation. | A new perspective on the function of Tissue Non-Specific Alkaline Phosphatase: from bone mineralization to intra-cellular lipid accumulation.
Bartlett CL, Cave EM, Crowther NJ, Ferris WF. | 07/9/2022 |
| Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia. | Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.
Sanabria-de la Torre R, Martínez-Heredia L, González-Salvatierra S, Andújar-Vera F, Iglesias-Baena I, Villa-Suárez JM, Contreras-Bolívar V, Corbacho-Soto M, Martínez-Navajas G, Real PJ, García-Fontana C, Muñoz-Torres M, García-Fontana B., Free PMC Article | 05/7/2022 |
| ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia. | ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.
Marini F, Masi L, Giusti F, Cianferotti L, Cioppi F, Marcucci G, Ciuffi S, Biver E, Toro G, Iolascon G, Iantomasi T, Brandi ML. | 04/23/2022 |
| Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation. | Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F, Zhou Z, Song X, Gan M, Long J, Verkhivker G, Hu G., Free PMC Article | 04/16/2022 |
| Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia. | Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.
Guarnieri V, Sileri F, Indirli R, Guabello G, Longhi M, Dito G, Verdelli C, Corbetta S., Free PMC Article | 03/26/2022 |
| Expression of the Adipocyte Progenitor Markers MSCA1 and CD36 is Associated With Adipose Tissue Function in Children. | Expression of the Adipocyte Progenitor Markers MSCA1 and CD36 is Associated With Adipose Tissue Function in Children.
Hanschkow M, Boulet N, Kempf E, Bouloumié A, Kiess W, Stein R, Körner A, Landgraf K., Free PMC Article | 02/19/2022 |
| Cip2A modulates osteogenic differentiation via the ERK-Runx2 pathway in MG63 cells. | Cip2A modulates osteogenic differentiation via the ERK-Runx2 pathway in MG63 cells.
Son HE, Jang WG. | 01/8/2022 |
| Primary biliary cholangitis with normal alkaline phosphatase: A neglected clinical entity challenging current guidelines. | Primary biliary cholangitis with normal alkaline phosphatase: A neglected clinical entity challenging current guidelines.
Terziroli Beretta-Piccoli B, Stirnimann G, Mertens J, Semela D, Zen Y, Mazzucchelli L, Voreck A, Kolbus N, Merlo E, Di Bartolomeo C, Messina P, Cerny A, Costantini S, Vergani D, Mieli-Vergani G, Swiss PBC Cohort Study Group. | 11/27/2021 |
| Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease? | Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Schmidt T, Schmidt C, Amling M, Kramer J, Barvencik F., Free PMC Article | 11/6/2021 |
| Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. | Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G, Reynders J, Negron C, Steinbrecher T, Mornet E., Free PMC Article | 11/6/2021 |
| Tissue-Nonspecific Alkaline Phosphatase (TNAP) as the Enzyme Involved in the Degradation of Nucleotide Analogues in the Ligand Docking and Molecular Dynamics Approaches. | Tissue-Nonspecific Alkaline Phosphatase (TNAP) as the Enzyme Involved in the Degradation of Nucleotide Analogues in the Ligand Docking and Molecular Dynamics Approaches.
Madaj R, Gostynski B, Pawlowska R, Chworos A., Free PMC Article | 10/30/2021 |
| Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia. | Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda N, Takasawa K, Ohata Y, Takishima S, Kubota T, Ishihara Y, Fujiwara M, Ogawa E, Morio T, Kashimada K, Ozono K. | 10/16/2021 |
| Vascular calcification in skin and subcutaneous tissue in patients with chronic and end-stage kidney disease. | Vascular calcification in skin and subcutaneous tissue in patients with chronic and end-stage kidney disease.
Ruderman I, Hewitson TD, Smith ER, Holt SG, Wigg B, Toussaint ND., Free PMC Article | 10/16/2021 |
| Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase. | Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.
Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE, Deary IJ, Pugh C, Prendergast J, Ralston SH., Free PMC Article | 09/18/2021 |
| TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism. | TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism.
Graser S, Liedtke D, Jakob F., Free PMC Article | 09/11/2021 |
| Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa. | Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Kishnani PS, Del Angel G, Zhou S, Rush ET. | 08/21/2021 |
| Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? | Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
Tornero C, Navarro-Compán V, Tenorio JA, García-Carazo S, Buño A, Monjo I, Plasencia-Rodriguez C, Iturzaeta JM, Lapunzina P, Heath KE, Balsa A, Aguado P., Free PMC Article | 08/7/2021 |
| Utility of genetic testing for prenatal presentations of hypophosphatasia. | Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. | 08/7/2021 |