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Select item 107920431.

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene

Luis Martínez-Heredia, Manuel Muñoz-Torres, Raquel Sanabria-de la Torre, Ángela Jiménez-Ortas, Francisco Andújar-Vera, Trinidad González-Cejudo, Victoria Contreras-Bolívar, Sheila González-Salvatierra, José María Gómez-Vida, Cristina García-Fontana, Beatriz García-Fontana

Front Endocrinol (Lausanne) 2023; 14: 1320516. Published online 2024 Jan 3. doi: 10.3389/fendo.2023.1320516

PMCID:: PMC10792043

Article PDF–4.7M

Select item 102419122.

Association between changes in serum alkaline phosphatase levels and radiographic progression in ankylosing spondylitis

Tae-Hwan Kim, Seo Young Park, Ji Hui Shin, Seunghun Lee, Kyung Bin Joo, Bon San Koo

Sci Rep. 2023; 13: 9093. Published online 2023 Jun 5. doi: 10.1038/s41598-023-36340-9

PMCID:: PMC10241912

Article PDF–1.8M

Select item 98341843.

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong

Mol Genet Genomic Med. 2023 Jan; 11(1): e2056. Published online 2022 Nov 28. doi: 10.1002/mgg3.2056

PMCID:: PMC9834184

Article PDF–1.3M

Select item 93286644.

Loss‐of‐Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

Nerea Alonso, Beatriz Larraz‐Prieto, Kathryn Berg, Zoe Lambert, Paul Redmond, Sarah E Harris, Ian J Deary, Carys Pugh, James Prendergast, Stuart H Ralston

J Bone Miner Res. 2020 Apr; 35(4): 657–661. Published online 2020 Jan 7. doi: 10.1002/jbmr.3928

PMCID:: PMC9328664

Article PDF–412K

Select item 90478995.

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia

Raquel Sanabria-de la Torre, Luis Martínez-Heredia, Sheila González-Salvatierra, Francisco Andújar-Vera, Iván Iglesias-Baena, Juan Miguel Villa-Suárez, Victoria Contreras-Bolívar, Mario Corbacho-Soto, Gonzalo Martínez-Navajas, Pedro J. Real, Cristina García-Fontana, Manuel Muñoz-Torres, Beatriz García-Fontana

Front Endocrinol (Lausanne) 2022; 13: 863940. Published online 2022 Apr 14. doi: 10.3389/fendo.2022.863940

PMCID:: PMC9047899

Article PDF–3.2M

Select item 89794386.

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation

Fei Xiao, Ziyun Zhou, Xingyu Song, Mi Gan, Jie Long, Gennady Verkhivker, Guang Hu

PLoS Comput Biol. 2022 Mar; 18(3): e1010009. Published online 2022 Mar 23. doi: 10.1371/journal.pcbi.1010009

PMCID:: PMC8979438

Article PDF–4.6M

Select item 87416967.

Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia

V. Guarnieri, F. Sileri, R. Indirli, G. Guabello, M. Longhi, G. Dito, C. Verdelli, S. Corbetta

J Endocrinol Invest. 2022; 45(1): 125–137. Published online 2021 Jul 2. doi: 10.1007/s40618-021-01625-1

PMCID:: PMC8741696

Article PDF–1.1M

Select item 85551738.

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik

Orphanet J Rare Dis. 2021; 16: 452. Published online 2021 Oct 28. doi: 10.1186/s13023-021-02084-w

PMCID:: PMC8555173

Article PDF–1.4M

Select item 83918169.

Tissue-Nonspecific Alkaline Phosphatase (TNAP) as the Enzyme Involved in the Degradation of Nucleotide Analogues in the Ligand Docking and Molecular Dynamics Approaches

Rafal Madaj, Bartlomiej Gostynski, Roza Pawlowska, Arkadiusz Chworos

Biomolecules. 2021 Aug; 11(8): 1104. Published online 2021 Jul 27. doi: 10.3390/biom11081104

PMCID:: PMC8391816

Article PDF–4.5M

Select item 788196810.

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

Nico Maximilian Jandl, Tobias Schmidt, Tim Rolvien, Julian Stürznickel, Konstantin Chrysostomou, Emil von Vopelius, Alexander E. Volk, Thorsten Schinke, Christian Kubisch, Michael Amling, Florian Barvencik

Calcif Tissue Int. 2021; 108(3): 288–301. Published online 2020 Nov 15. doi: 10.1007/s00223-020-00771-7

PMCID:: PMC7881968

Article PDF–2.0M

Select item 783149511.

TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism

Stephanie Graser, Daniel Liedtke, Franz Jakob

Int J Mol Sci. 2021 Jan; 22(2): 919. Published online 2021 Jan 18. doi: 10.3390/ijms22020919

PMCID:: PMC7831495

Article PDF–797K

Select item 776331112.

Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease

Daniel Liedtke, Christine Hofmann, Franz Jakob, Eva Klopocki, Stephanie Graser

Biomolecules. 2020 Dec; 10(12): 1648. Published online 2020 Dec 8. doi: 10.3390/biom10121648

PMCID:: PMC7763311

Article PDF–2.8M

Select item 738912413.

新复合杂合突变致婴儿型低磷酸酯酶症1例及其家系分析

李登峰, 蓝丹, 钟京梓, Roma KajalDewan, 谢彦舒, 杨莹

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 539–544. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.012

PMCID:: PMC7389124

Article PDF–2.2M

Select item 731775414.

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Guillermo del Angel, John Reynders, Christopher Negron, Thomas Steinbrecher, Etienne Mornet

Hum Mutat. 2020 Jul; 41(7): 1250–1262. Published online 2020 Mar 18. doi: 10.1002/humu.24010

PMCID:: PMC7317754

Article PDF–2.4M

Select item 702699515.

Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

C. Tornero, V. Navarro-Compán, J. A. Tenorio, S. García-Carazo, A. Buño, I. Monjo, C. Plasencia-Rodriguez, J. M. Iturzaeta, P. Lapunzina, K. E. Heath, A. Balsa, P. Aguado

Orphanet J Rare Dis. 2020; 15: 51. Published online 2020 Feb 17. doi: 10.1186/s13023-020-1315-y

PMCID:: PMC7026995

Article PDF–737K

Select item 687610816.

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu, Chunhua Zeng

BMC Pediatr. 2019; 19: 456. Published online 2019 Nov 25. doi: 10.1186/s12887-019-1800-4

PMCID:: PMC6876108

Article PDF–1.3M

Select item 678660117.

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Rena Okawa, Kazuma Kokomoto, Taichi Kitaoka, Takuo Kubota, Atsushi Watanabe, Takeshi Taketani, Toshimi Michigami, Keiichi Ozono, Kazuhiko Nakano

PLoS One. 2019; 14(10): e0222931. Published online 2019 Oct 10. doi: 10.1371/journal.pone.0222931

PMCID:: PMC6786601

Article PDF–995K

Select item 645692118.

Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders

Kathryn M Dahir, Daniel R Tilden, Jeremy L Warner, Lisa Bastarache, Derek K Smith, Aliya Gifford, Andrea H Ramirez, Jill S Simmons, Margo M Black, John H Newman, Josh C Denny

J Clin Endocrinol Metab. 2018 Jun; 103(6): 2234–2243. Published online 2018 Apr 6. doi: 10.1210/jc.2017-02676