Results 91 to 100 of about 7,210 (112)

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

Bone, 2010
Mineralization of the extracellular matrix of bone is an essential element of bone development, maintenance and repair. ALPL and ENPP1 genes and their products are known to be central in local regulation of bone mineralization. The present study investigates potential associations of ENPP1 and ALPL polymorphisms with several phenotypes reflecting bone ...
Sergey, Ermakov, Mohammad Reza, Toliat, Zvi, Cohen, Ida, Malkin, Janine, Altmüller, Gregory, Livshits, Peter, Nürnberg   +6 more
openaire   +2 more sources

Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population

Genetic Testing and Molecular Biomarkers, 2018
Kidney stone formation is a complex disorder that likely results from both dietary and genetic factors. A recent study identified an association between the risk of kidney stones and polymorphisms in the ALPL gene, but the study needs replication. To confirm whether the ALPL gene is universally associated with kidney stones, the present study further ...
Xiaoming, Li, Xingbo, Dang, Yongyi, Cheng, Duping, Zhang, Xinyu, Zhang, Tiejun, Zou, Junping, Xing   +6 more
openaire   +2 more sources

CASR, CLDN 14, ALPL & SLC34A1 genes are associated with the risk of nephrolithiasis in Egyptian children

Journal of Pediatric Urology
The pathophysiology of nephrolithiasis is complex, influenced by both environmental and genetic factors. Calcium is the most prevalent metabolite present in the stone matrix. Stimulating the basolateral calcium sensing receptor (CASR) in the renal tubules leads to an increase in claudin-14 expression, reducing paracellular calcium permeability and ...
Fatina I. Fadel, Manal F. Elshamaa, Mervat Ismail, Alaa Rashad, Ashraf Galal, Solaf Kamel, Eman Awadallah, Rasha Nazeeh, Eman Mahmoud, Yasmin Ramadan   +9 more
openaire   +2 more sources

Identification of a Novel Compound Heterozygous Variant in the ALPL Gene Linked to Hypophosphatasia in a Chinese Family

The Journal of Clinical Endocrinology & Metabolism
Abstract Context Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by loss-of-function variant(s) of the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP).
Rongmei Lu, Chuhui Chen, Zhen Yu, Qinyu Liu, Junping Wen, Gang Chen   +5 more
openaire   +2 more sources

ALPL gene mutation in a family

Bone Abstracts, 2019
Silvia Vai, Francesca Broggi, Bianchi Maria Luisa, Emanuela Ponti, Alessandra Mihalich, Di Blasio Anna Maria   +5 more
openaire   +1 more source

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Kazuhiko Nakano, Rena ŌKAWA, Tamami Kadota   +2 more
exaly  

A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the <i>ALPL</i> gene

Clinical Pediatric Endocrinology, 2023
Toshimi Michigami, Kanako Tachikawa, Miwa Yamazaki   +2 more
exaly  

ALPLGenotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia

Journal of Clinical Endocrinology and Metabolism, 2022
Laura Masi, Emmanuel Biver, Giovanni Iolascon   +2 more
exaly  

Presence of two novel mutations of the ALPL gene in a Chinese patient with hypophosphatasia

Bone, 2010
Haijuan Liu, Mei Li, Xiaoping Xing, Weibo Xia, Wei Yu, Min Nie, Ou Wang, Yan Jiang, Xunwu Meng, Xueying Zhou, Yingying Hu, Huaicheng Liu   +11 more
openaire   +1 more source

Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population

Genetic Testing and Molecular Biomarkers, 2018
Junping Xing, Xingbo Dang, Yongyi Cheng   +2 more
exaly