Results 181 to 190 of about 10,706 (212)

A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

Bone, 2017
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase,
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann   +3 more
openaire   +2 more sources

[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing.
Yan, Cui, Yingxian, Zhang, Dongxia, Fu, Xiaojing, Liu, Haiyan, Wei   +4 more
openaire   +1 more source

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

A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Journal of Pediatric Endocrinology and Metabolism
Abstract Objectives Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database.
Yuji, Oto, Daiki, Suzuki, Tsubasa, Morita, Takeshi, Inoue, Akihisa, Nitta, Nobuyuki, Murakami, Yuuka, Abe, Yoshinobu, Hamada, Tomoyuki, Akiyama, Tomoyo, Matsubara   +9 more
openaire   +2 more sources

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Human mutation, 2001
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 11 families affected by various forms of
Taillandier, A., Lia-Baldini, A.S., Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Bonduelle, M., Eckhardt, J., Gaillard, D., Myhre, A.G., Kortge-Jung, S., Larget-Piet, L., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, E.   +18 more
openaire   +4 more sources

Common Variants inALPLGene 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

Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.

Circulation. Genomic and precision medicine, 2019
Calcific aortic valve stenosis (CAVS) is a frequent and life-threatening cardiovascular disease for which there is currently no medical treatment available. To date, only 2 genes, LPA and PALMD, have been identified as causal for CAVS. We aimed to identify additional susceptibility genes for CAVS.A GWAS (genome-wide association study) meta-analysis of ...
Thériault, Sébastien, Dina, Christian, Messika-Zeitoun, David, Le Scouarnec, Solena, Capoulade, Romain, Gaudreault, Nathalie, Rigade, Sidwell, Li, Zhonglin, Simonet, Floriane, Lamontagne, Maxime, Clavel, Marie-Annick, Arsenault, Benoit, Boureau, Anne-Sophie, Lecointe, Simon, Baron, Estelle, Bonnaud, Stéphanie, Karakachoff, Matilde, Charpentier, Eric, Fellah, Imen, Roussel, Jean-Christian, Philippe Verhoye, Jean, Baufreton, Christophe, Probst, Vincent, Roussel, Ronan, Redon, Richard, Dagenais, François, Pibarot, Philippe, Mathieu, Patrick, Le Tourneau, Thierry, Bossé, Yohan, Schott, Jean-Jacques   +30 more
openaire   +3 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

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly