Results 1 to 10 of about 14,236 (244)

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

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   +11 more sources

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype–Phenotype Correlations in Italian Hypophosphatasia Patients [PDF]

Cells
Background. Hypophosphatasia (HPP) is a rare genetic disorder caused by impaired tissue non-specific alkaline phosphatase (ALPL/TNSALP) activity that impacts the musculoskeletal and neurological systems.
Giulia Casamassima, Anna Maria Grieco, Tommaso Biagini, Giorgia Buono, Luigia Cinque, Flavia Pugliese, Francesco Pio Guerra, Francesco Petrizzelli, Mario Mastroianno, Tommaso Mazza, Marco Castori, Alfredo Scillitani, Vito Guarnieri   +12 more
doaj   +4 more sources

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations [PDF]

Human Genome Variation
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu   +3 more
doaj   +4 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   +4 more sources

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

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   +2 more sources

Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia [PDF]

Clinical Case Reports, 2020
The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.
Atil Bisgin, Ibrahim Boga, Cihan Cetin, Selim Buyukkurt   +3 more
doaj   +2 more sources

A calcium-sensing MCTP1/FYN/MEF2C circuit drives therapy-induced neuroendocrine prostate cancer [PDF]

Neoplasia: An International Journal for Oncology Research
Neuroendocrine prostate cancer (NEPC) represents a highly aggressive, treatment‑refractory phenotype that frequently emerges after androgen‑deprivation therapy (ADT).
Phan Vu Thuy Dung, Wei-Yu Chen, Ming-Kun Liu, Shauh-Der Yeh, Gagan Kajla, Hsiu-Lien Yeh, Wei-Hao Chen, Kuo-Ching Jiang, Han-Ru Li, Cheng-Sheng Chen, Himisha Beltran, Yu-Ching Wen, Yen-Nien Liu   +12 more
doaj   +2 more sources

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia [PDF]

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +2 more sources

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort [PDF]

Frontiers in Genetics
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed   +12 more
doaj   +2 more sources

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

JCRPE, 2019
Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert   +5 more
doaj   +2 more sources