Results 21 to 30 of about 2,723,375 (158)

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton. [PDF]

Adv Sci (Weinh)
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Bourne LE, Sharma A, Dillon S, Keen J, Jayash SN, Crump N, Evans LAE, Karmali M, Promruk W, Clarkin CE, Narisawa S, Stephen L, Foster BL, Millán JL, Farquharson C, Staines KA.   +15 more
europepmc   +2 more sources

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

Molecular Genetics & Genomic Medicine, 2023
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.
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   +9 more
doaj   +1 more source

Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia

Stem Cell Research, 2022
Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase (ALPL) gene.
Abhay Srivastava, Rishma Jaryal, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Using Tumor-Infiltrating Immune Cells and a ceRNA Network Model to Construct a Prognostic Analysis Model of Thyroid Carcinoma

Frontiers in Oncology, 2021
Thyroid carcinoma is a solid malignant tumor that has had a fast-growing incidence in recent years. Our research used thyroid carcinoma gene expression profiling from TCGA (The Cancer Genome Atlas) database to identify differentially expressed ceRNAs ...
Fan Zhang, Xiaohui Yu, Zheyu Lin, Xichang Wang, Tiantian Gao, Di Teng, Weiping Teng   +6 more
doaj   +1 more source

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

PLoS Computational Biology, 2022
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization and is highly variable in its clinical phenotype.
Fei Xiao, Ziyun Zhou, Xingyu Song, Mi Gan, Jie Long, Gennady Verkhivker, Guang Hu   +6 more
doaj   +1 more source

The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population

, 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 ...
Esra, Guzel Tanoglu, Burhanettin, Yalcinkaya, Burcu, Genc Yavuz, Sahin, Colak, Ibrahim, Altundag, Emrah, Yurek   +5 more
core   +1 more source

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene. [PDF]

Sci Rep, 2019
Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process.
García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M.   +9 more
europepmc   +2 more sources

Identifying adult hypophosphatasia in the rheumatology unit

Orphanet Journal of Rare Diseases, 2022
Background The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis.
Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina, Roland Kocijan   +9 more
doaj   +1 more source

ALPL-1 is a target for chimeric antigen receptor therapy in osteosarcoma [PDF]

, 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
Iwona Grad, Vimeux, Lene, Álava, Enrique de, Myhre, Marit, Patrik Wernhoff, Bruland, Øyvind S., Maggadottir, Solrun Melkork, Asta Juzeniene, Marit R. Myhre, Nadia Mensali, René Rodriguez, Solrun Melkorka Maggadottir, Castilla, Carolina, Paola Romecin, Panisello, Carla, de Alava, Enrique, Pablo Menendez, Mensali, Nadia, Romecin, Paola, Andrés Daniel Maturana, Maggadottir, Solrun Melkorka, Donnadieu, Emma, Menéndez, Pablo, Sébastien Wälchli, Inderberg, Else Marit, Bruland, Øyvind, Köksal, Hakan, Rodriguez, René, Romecín, Paola Alejandra, Maturana, Andrés Daniel, Carcaboso, Angel M, Nicholas P. Casey, Casey, Nicholas P, Wälchli, Sébastien, Joaquina, Sandy, Wernhoff, Patrick, Casey, Nicholas, Myhre, Marit R., Enrique de Alava, Lene Vimeux, Emmanuel Donnadieu, Myhre, Marit R, Hakan Köksal, Castilla-Ramirez, Carolina, Anna-Maria Georgoudaki, Casey, Nicholas P., Wernhoff, Patrik, Øyvind S. Bruland, Adil Doganay Duru, Carcaboso, Ángel M., Fåne, Anne, Kvalheim, Gunnar, Carcaboso, Angel, Sandy Joaquina, Gunnar Kvalheim, Bruland, Øyvind S, Carolina Castilla Ramírez, Angel M. Carcaboso, Juzeniene, Asta, Grad, Iwona, Gustav Gaudernack, Georgoudaki, Anna-Maria, Ramírez, Carolina Castilla, Duru, Adil Doganay, Carla Panisello, Donnadieu, Emmanuel, Anne Fåne, Gaudernack, Gustav, Else Marit Inderberg, Koeksal, Hakan, Rodríguez González, René, Wernhoff, P, Joaquina, S, Mensali, N, Romecin, P, Rodriguez, R, Menéndez Bujan, Pablo, Casey, NP, Panisello, C, Juzeniene, A, Koeksal, H, Vimeux, L   +81 more
core   +1 more source

Effects of Egg Yolk-Derived Peptide on Osteogenic Gene Expression and MAPK Activation

Molecules, 2014
The present study investigated the effects of egg yolk-derived peptide (YPEP) on osteogenic activities and MAPK-regulation of osteogenic gene expressions.
Hye Kyung Kim, Myung-Gyou Kim, Kang-Hyun Leem   +2 more
doaj   +1 more source