Literature DB >> 9878260

Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).

C Derst1, F Döring, R Preisig-Müller, J Daut, A Karschin, N Jeck, S Weber, H Engel, K H Grzeschik.   

Abstract

The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region of KCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assigns KCNJ13 to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524-->T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found. Copyright 1998 Academic Press.

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Year:  1998        PMID: 9878260     DOI: 10.1006/geno.1998.5598

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

Review 1.  Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.

Authors:  Bikash R Pattnaik; Matti P Asuma; Ryan Spott; De-Ann M Pillers
Journal:  Mol Genet Metab       Date:  2011-10-19       Impact factor: 4.797

2.  Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.

Authors:  Dongli Yang; Anuradha Swaminathan; Xiaoming Zhang; Bret A Hughes
Journal:  Exp Eye Res       Date:  2007-10-02       Impact factor: 3.467

3.  Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.

Authors:  Pawan K Shahi; Dalton Hermans; Divya Sinha; Simran Brar; Hannah Moulton; Sabrina Stulo; Katarzyna D Borys; Elizabeth Capowski; De-Ann M Pillers; David M Gamm; Bikash R Pattnaik
Journal:  Am J Hum Genet       Date:  2019-01-24       Impact factor: 11.025

4.  Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.

Authors:  Maria Toms; Thomas Burgoyne; Dhani Tracey-White; Rose Richardson; Adam M Dubis; Andrew R Webster; Clare Futter; Mariya Moosajee
Journal:  Sci Rep       Date:  2019-03-07       Impact factor: 4.379

5.  Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

Authors:  Bikash R Pattnaik; Sara Tokarz; Matti P Asuma; Tyler Schroeder; Anil Sharma; Julie C Mitchell; Albert O Edwards; De-Ann M Pillers
Journal:  PLoS One       Date:  2013-08-19       Impact factor: 3.240

  5 in total

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