Results 11 to 20 of about 13,848 (209)

GSK3β rephosphorylation rescues ALPL deficiency-induced impairment of odontoblastic differentiation of DPSCs [PDF]

Stem Cell Research & Therapy, 2021
Background Premature exfoliation of the deciduous teeth is a common manifestation in childhood patients with hypophosphatasia (HPP), which is an autosomal inherited disease caused by ALPL mutations.
Liqiang Zhang, Jiangdong Zhao, Jiayi Dong, Yuting Liu, Kun Xuan, Wenjia Liu   +5 more
doaj   +3 more sources

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

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, Hakan Köksal, Sandy Joaquina, Patrik Wernhoff, Nicholas P. Casey, Paola Romecin, Carla Panisello, René Rodriguez, Lene Vimeux, Asta Juzeniene, Marit R. Myhre, Anne Fåne, Carolina Castilla Ramírez, Solrun Melkorka Maggadottir, Adil Doganay Duru, Anna-Maria Georgoudaki, Iwona Grad, Andrés Daniel Maturana, Gustav Gaudernack, Gunnar Kvalheim, Angel M. Carcaboso, Enrique de Alava, Emmanuel Donnadieu, Øyvind S. Bruland, Pablo Menendez, Else Marit Inderberg, Sébastien Wälchli   +26 more
doaj   +10 more sources

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested.
Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang   +4 more
doaj   +3 more sources

Six ALPL gene variants in five children with hypophosphatasia [PDF]

Annals of Translational Medicine, 2021
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP children to investigate the pathogenic mechanisms of the ALPL gene ...
Su, Na, Zhu, Min, Cheng, Xinran, Xu, Ke, Kocijan, Roland, Zhang, Huijiao   +5 more
openaire   +2 more sources

Compounded PHOSPHO1/ALPL Deficiencies Reduce Dentin Mineralization [PDF]

Journal of Dental Research, 2013
Phosphatases are involved in bone and tooth mineralization, but their mechanisms of action are not completely understood. Tissue-nonspecific alkaline phosphatase (TNAP, ALPL) regulates inhibitory extracellular pyrophosphate through its pyrophosphatase activity to control mineral propagation in the matrix; mice without TNAP lack acellular cementum, and
M D, McKee, M C, Yadav, B L, Foster, M J, Somerman, C, Farquharson, J L, Millán   +5 more
openaire   +2 more sources

A novel dominant negative variant of <i>ALPL</i> induces hypophosphatasia. [PDF]

JBMR Plus
Abstract Hypophosphatemia (HPP) is an inherited metabolic disorder characterized by defective bone and tooth mineralization, resulting from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL). Despite the wide spectrum of clinical manifestations associated with ALPL mutations, the genotype–phenotype relationship
Chen G, Liao Q, Xing T, Zhang X, Ma H, Cao Y, Cheng Q, Qin A, Ma P.   +8 more
europepmc   +2 more sources

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

Frontiers in Endocrinology, 2023
IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients ...
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri   +30 more
doaj   +1 more source

Diagnostic accuracy of novel mRNA blood biomarkers of infection to predict outcomes in emergency department patients with undifferentiated abdominal pain

Scientific Reports, 2023
Abdominal pain represents greater than 20% of US Emergency Department (ED) visits due to a wide range of illnesses. There are currently no reliable blood biomarkers to predict serious outcomes in patients with abdominal pain.
Andrew C. Meltzer, Richard S. Wargowsky, Seamus Moran, Tristan Jordan, Ian Toma, Tisha Jepson, Shiyu Shu, Yan Ma, Timothy A. McCaffrey   +8 more
doaj   +1 more source

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

Frontiers in Endocrinology, 2022
BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.
Maite Santurtún, Eva Mediavilla-Martinez, Ana I. Vega, Natalia Gallego, Natalia Gallego, Karen E. Heath, Karen E. Heath, Jair A. Tenorio, Jair A. Tenorio, Pablo Lapunzina, Pablo Lapunzina, Leyre Riancho-Zarrabeitia, José A. Riancho   +12 more
doaj   +1 more source

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

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, 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   +11 more
doaj   +1 more source