Results 51 to 60 of about 2,265 (159)

Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis [PDF]

The American Journal of Human Genetics, 2006
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene),
Ayse Corut, Abdurrahman Şenyiğit, Sı̇bel Aylı̇n Uğur İşerı̇, Sedat Altın, Uğur Özçelik, Haluk Çalışır, Zeki Yıldırım, Ayhan Göçmen, Aslıhan Tolun   +8 more
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SLC34A2 wt Allele [PDF]

Definitions, 2020

semanticscholar   +2 more sources

A Frame-Shift Mutation in the SLC34A2 Gene in Three Patients with Pulmonary Alveolar Microlithiasis in an Inbred Family

Internal Medicine, 2010
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the presence of small calculi in the alveolar space. The SLC34A2 is thought to be responsible for the disease. We encountered three siblings of an inbred family who have PAM.
Ömer Tamer Doğan, Sefa Levent Özşahin, Eylem Gül Ateş, Sülhattin Arslan, Binnur Köksal, Serdar Berk, Öztürk Özdemir, İbrahim Akkurt   +7 more
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The effects and mechanisms of SLC34A2 in tumorigenesis and progression of human non-small cell lung cancer [PDF]

Journal of Biomedical Science, 2015
SLC34A2 with highest expressions in lung, small intestine and kidney encoded a type 2b sodium-dependent phosphate transporter (NaPi-IIb). In lung, SLC34A2 only expressed in the apical membrane of type II alveolar epithelium cells (ATII cells) and played a pivotal role during the fetal lung development and embryonic development.
Yu Wang, Weihan Yang, Qiang Pu, Yan Yang, Sujuan Ye, Qingping Ma, Jiang Ren, Zhixing Cao, Guoxing Zhong, Xuechao Zhang, Lunxu Liu, Wen Zhu   +11 more
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SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: Report of four cases and review of literatures [PDF]

Respiratory Medicine, 2012
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder characterized by the deposition of calcium phosphate microliths throughout the lungs. Currently the mutation of SLC34A2 gene was considered responsible for PAM. Here we reported the studies on mutation analysis of the SLC34A2 gene in three familial members and one unrelated ...
Xinzhen Yin, Huiying Wang, Dingwen Wu, Guohua Zhao, Jing-xin Shao, Yu Dai   +5 more
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Recognition of the sodium-dependent phosphate transporter NaPi2b by monoclonal antibodies N-NaPi2b in ovarian cancer cells

Учёные записки Казанского университета: Серия Естественные науки, 2020
The sodium-dependent phosphate cotransporter NaPi2b encoded by the SLC34A2 gene is a transmembrane protein that belongs to the family of phosphate transporters SLC34 and is involved in maintaining phosphate homeostasis in the human body.
L.F. Minigulova, V.S. Skripova, A.K. Nurgalieva, D.V. Savenkova, A.S. Kozlova, N.I. Akberova, D.D. Reshetnikova, L.A. Savinska, O.M. Garifulin, M.V. Bogdanov, R.G. Kiyamova   +10 more
doaj   +1 more source

Sodium-dependent phosphate transporter NaPi2b as a potential predictive marker for targeted therapy of ovarian cancer

Biochemistry and Biophysics Reports, 2021
The high mortality rate from ovarian cancer is due to the asymptomatic nature of the course of the disease, which leads to the diagnosis of ovarian cancer in later stages.
A.K. Nurgalieva, V.E. Popov, V.S. Skripova, L.F. Bulatova, D.V. Savenkova, R.A. Vlasenkova, S.Z. Safina, E. Zh Shakirova, V.V. Filonenko, M.V. Bogdanov, R.G. Kiyamova   +10 more
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TRIB3 promotes pulmonary fibrosis through inhibiting SLUG degradation by physically interacting with MDM2

Acta Pharmaceutica Sinica B, 2023
Pulmonary fibrosis (PF) is the pathological structure of incurable fibroproliferative lung diseases that are attributed to the repeated lung injury-caused failure of lung alveolar regeneration (LAR). Here, we report that repetitive lung damage results in
Xiaoxi Lv, Shanshan Liu, Chang Liu, Yunxuan Li, Tingting Zhang, Jie Qi, Ke Li, Fang Hua, Bing Cui, Xiaowei Zhang, Yuxin Liu, Jiaojiao Yu, Jinmei Yu, Li Li, Xia Li, Zhigang Yao, Bo Huang   +16 more
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Effect of SLC34A2 gene mutation on extracellular phosphorus transport in PAM alveolar epithelial cells

Experimental and Therapeutic Medicine, 2017
A mutation in the IIb sodium phosphate transporter SLC34A2 gene has recently been described in pulmonary alveolar microlithiasis (PAM) patients. Experiments in this study were aimed at confirming the role of the gene product in PAM by comparing phosphorylated products in extracellular fluid of alveolar epithelial cells overexpressing the SLC34A2 gene ...
Tiangang Ma, Danhua Qu, Bingdi Yan, Qinghua Zhang, Jin Ren, Yanbing Hu   +5 more
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Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy

Radiology Case Reports, 2019
Pulmonary alveolar microlithiasis is rare disease characterized by accumulation of calcium phosphate microlithis in the alveoli. The pathogenesis relates to mutation in the gene SLC34A2 (solute carrier family 34 member 2) located on chromosome 4p15.2 ...
Emad Alkhankan, MD, Hasan Yamin, MD, Hazim Bukamur, MD, Fadi Alkhankan, MD, Yousef Shweihat, MD, Fuad Zeid, MD   +5 more
doaj   +1 more source