Results 11 to 20 of about 10,834 (202)

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report [PDF]

J Endocr Soc, 2023
Abstract Disclosure: K. Alkwatli: None. L.Z. Khan: None. Introduction: Hypophosphatasia is a rare hereditary disorder caused by loss of tissue nonspecific alkaline phosphatase activity, an essential enzyme in phosphate metabolism. Severe cases present perinatally and in early childhood.
Alkwatli, Kenda, Khan, Leila Zeinab
europepmc   +2 more sources

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. [PDF]

Human mutation, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia.
Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, Mornet, E.   +17 more
exaly   +5 more sources

The ALPL gene variant project: results of the first 100 reclassified variants. [PDF]

JBMR Plus
Abstract Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase.
Farman MR, Malli T, Rehder C, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Barbazza F, Shojaei S, Ebner-Jahn J, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Tauer JT, Kishnani PS, Högler W.   +21 more
europepmc   +4 more sources

Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family [PDF]

Journal of Bone and Mineral Metabolism, 2021
Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characterized clinically by defective mineralization of bone, dental problems, and low serum ALP levels. In the current report, we demonstrate a novel
Masaru Kato, Toshimi Michigami, Kanako Tachikawa, Momoko Kato, Ichiro Yabe, Tomohiro Shimizu, Takuya Asaka, Yoshimasa Kitagawa, Tatsuya Atsumi   +8 more
openaire   +5 more sources

A novel missense mutation in the ALPL gene causes dysfunction of the protein. [PDF]

Mol Med Rep, 2017
Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict.
Chen B, Li L, Ren W, Yi L, Wang Y, Yan F.   +5 more
europepmc   +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   +3 more sources

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family. [PDF]

Exp Ther Med, 2020
Hypophosphatasia (HPP) is a rare hereditary systemic disease that is characterized by defective bone and/or dental mineralization, and is caused by mutations in the alkaline phosphatase gene (ALPL). The present study investigated the ALPL mutation in a Chinese Han family with HPP and studied the pathogenesis of the mutations of the ALPL gene.
Huang H, Wang J, Liang Y, Wei X, Guo D, Sun H, Zhang X, Xu X, Xiong F.   +8 more
europepmc   +4 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

7154 Adult Hypophosphatasia With Heterozygous Missense Mutations In ALPL Gene [PDF]

J Endocr Soc
Abstract Disclosure: A.S. Chaugule: None. Y. Cervelo: None. S. Dhillon: None. D. Tuncay: None. We present a case of a male in his third decade of life discovered to be a carrier of the genetic mutation associated with hypophosphatasia during routine pre-conception genetic screening. Genetic analysis revealed a heterozygous
Chaugule, Akshata S, Cervelo, Yeset, Dhillon, Shabnam, Tuncay, Delibasi   +3 more
europepmc   +2 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   +2 more sources