Results 1 to 10 of about 13,848 (209)

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   +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

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   +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

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

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

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