Results 1 to 10 of about 10,054 (208)

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.
Katelynn G Sagaser, Julie Hoover-Fong, Angie C Jelin   +2 more
exaly   +2 more sources

Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia [PDF]

中国当代儿科杂志
ObjectiveTo summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP).MethodsA retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between
WU Shuo, WANG Yi-Rou, HU Jia-Yue, CHANG Guo-Ying, LI Xin, LI Qun, DING Yu, YU Ting-Ting, WANG Xiu-Min   +8 more
doaj   +2 more sources

Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants

Frontiers in Pediatrics
This study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder.
Qiongjie Jiao, Guixia Ma, Qian Ni
exaly   +3 more sources

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]

Neonatal Medicine, 2020
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day.
Seung Jae Lee, Dong Won Lee, Won Duck Kim   +2 more
doaj   +1 more source

Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis

Лечащий Врач, 2023
Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis.
E. Yu. Belyashova, A. L. Frolenko, I. V. Zorin, A. P. Pakhomov   +3 more
doaj   +1 more source

Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children

Urology Research and Practice, 2021
Objective: Nephrolithiasis results from metabolic and anatomic abnormalities together with genetic factors. Claudin 14 (CLDN14) is a protein that regulates the passage of small solutes through the kidneys.
Manal F. Elshamaa, Fatina I. Fadel, Soal Kamel, Hebatallah Farouk, Mostafa Alahmady, Yasim Ramadan   +5 more
doaj   +1 more source

Alkaline phosphatase downregulation promotes lung adenocarcinoma metastasis via the c-Myc/RhoA axis

Cancer Cell International, 2021
Background Lung adenocarcinoma (LUAD) metastasis significantly reduces patient survival; hence inhibiting the metastatic ability of lung cancer cells will greatly prolong patient survival.
Zhefeng Lou, Weiwei Lin, Huirong Zhao, Xueli Jiao, Cong Wang, He Zhao, Lu Liu, Yu Liu, Qipeng Xie, Xing Huang, Haishan Huang, Lingling Zhao   +11 more
doaj   +1 more source

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark

Bone Reports, 2021
Background: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low levels of alkaline phosphatase (ALP) are a biochemical hallmark of the disease. Scarce knowledge about the prevalence of HPP in Scandinavia exists, and the
Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, Jakob Præst Holm, Niklas Rye Jørgensen, Jens-Erik Beck Jensen   +5 more
doaj   +1 more source

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

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   +1 more source

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