Results 21 to 30 of about 10,834 (202)

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. [PDF]

J Clin Res Pediatr Endocrinol, 2016
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason,
Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E.   +5 more
europepmc   +3 more sources

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

The Journal of Clinical Endocrinology & Metabolism, 2018
Mutations in alkaline phosphatase (AlkP), liver/bone/kidney (ALPL), which encodes tissue-nonspecific isozyme AlkP, cause hypophosphatasia (HPP). HPP is suspected by a low-serum AlkP. We hypothesized that some patients with bone or dental disease have undiagnosed HPP, caused by ALPL variants.Our objective was to discover the prevalence of these gene ...
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   +10 more
openaire   +4 more sources

SUN-754 Unveiling a Rare Case of Pediatric Hypophosphatasia: Discovery of a Novel ALPL Gene Variant [PDF]

J Endocr Soc
Abstract Disclosure: M.I. Chiamolera: Consultant of Fleury Group. G.M. Spolador: Fleury Group. J.V. Lima: Consultant of Fleury Group. P. Saddi-Rosa: Fleury Group. R.M. Biscolla: Consultant of Fleury Group. S.S. Maeda: None. Background: Hypophosphatasia (HPP) is a rare disorder caused by variants in the ALPL gene ...
Chiamolera, Maria Izabel, Spolador, Gustavo M, Lima, Jose Viana, Saddi-Rosa, Pedro, Mello Biscolla, Rosa Paula, Maeda, Sergio Setsuo   +5 more
europepmc   +3 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

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase. [PDF]

J Bone Miner Res, 2020
Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE, Deary IJ, Pugh C, Prendergast J, Ralston SH.   +9 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

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

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

Sci Rep, 2019
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

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