Results 11 to 20 of about 14,236 (244)

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   +4 more sources

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

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 ...
Na Su, Min Zhu, Xinran Cheng, Ke Xu, Roland Kocijan, Huijiao Zhang   +5 more
openalex   +3 more sources

Alkaline phosphatase (ALPL) as a diagnostic and prognostic biomarker linked to immune response in thyroid cancer. [PDF]

Gland Surg
Gao M, Yi J, Liu L, Xu L.
europepmc   +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

<i>ALPL</i> Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins. [PDF]

Hum Mutat
Hao L, Huang N, Tao Y, Li H, Zhuang J, Li X, Hao Z, Zhao F.   +7 more
europepmc   +2 more sources

The Global ALPL gene variant classification project: Dedicated to deciphering variants

Bone, 2023
Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care ...
Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl R. Greenberg, Kathryn Dahir, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M.A. Delana Mudiyanselage, Florian Högler, Erica Nading, Erin Huggins, Eric T. Rush, Ahmed El‐Gazzar, Priya S. Kishnani, Wolfgang Högler   +20 more
openalex   +4 more sources

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