Literature DB >> 19329736

A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study.

Y Ishihara1, K Hagiwara, K Zen, Y Hosokawa, A Natsuhara.   

Abstract

A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a single inbred patient.

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Year:  2009        PMID： 19329736     DOI： 10.1136/thx.2008.102996

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


  8 in total

Review 1.  Genetic interstitial lung disease.

Authors:  Megan Stuebner Devine; Christine Kim Garcia
Journal:  Clin Chest Med       Date:  2011-12-06       Impact factor: 2.878

Review 2.  Pulmonary alveolar microlithiasis: a case report and review of the literature.

Authors:  M Proesmans; M Boon; E Verbeken; U Ozcelik; N Kiper; W Van de Casseye; K De Boeck
Journal:  Eur J Pediatr       Date:  2012-02-04       Impact factor: 3.183

Review 3.  Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease.

Authors:  Jeffrey A Whitsett; Susan E Wert; Timothy E Weaver
Journal:  Annu Rev Med       Date:  2010       Impact factor: 13.739

4.  Pulmonary alveolar microlithiasis.

Authors:  Surender Kashyap; Prasanta R Mohapatra
Journal:  Lung India       Date:  2013-04

5.  SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction.

Authors:  Huiying Wang; Xinzhen Yin; Dingwen Wu; Xinguo Jiang
Journal:  Meta Gene       Date:  2014-08-15

6.  A novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.

Authors:  Hiroki Izumi; Jun Kurai; Masahiro Kodani; Masanari Watanabe; Akihiro Yamamoto; Eiji Nanba; Kaori Adachi; Tadashi Igishi; Eiji Shimizu
Journal:  Hum Genome Var       Date:  2017-01-26

7.  A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene.

Authors:  Lara Stokman; Esther J Nossent; Katrien Grunberg; Lilian Meijboom; Mustafa C Yakicier; Els Voorhoeve; Arjan C Houweling
Journal:  Clin Case Rep       Date:  2016-03-11

8.  Effect of SLC34A2 gene mutation on extracellular phosphorus transport in PAM alveolar epithelial cells.

Authors:  Tiangang Ma; Danhua Qu; Bingdi Yan; Qinghua Zhang; Jin Ren; Yanbing Hu
Journal:  Exp Ther Med       Date:  2017-10-27       Impact factor: 2.447
  8 in total

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