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Literature DB >> 25096485

Aberrant transcriptional regulation could explain phenotypic variability in autosomal recessive polycystic kidney disease.

Friedrich C Luft¹.

Abstract

Entities: Disease

Mesh：

Substances：
Receptors, Cell Surface

Year: 2014 PMID： 25096485 DOI： 10.1007/s00109-014-1197-3

Source DB: PubMed Journal: J Mol Med (Berl) ISSN： 0946-2716 Impact factor: 4.599

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15 in total

Review 1. Mechanisms of alternative pre-messenger RNA splicing.

Authors: Douglas L Black
Journal: Annu Rev Biochem Date: 2003-02-27 Impact factor: 23.643

Review 2. Pre-messenger RNA processing and its regulation: a genomic perspective.

Authors: M Soller
Journal: Cell Mol Life Sci Date: 2006-04 Impact factor: 9.261

3. Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.

Authors: Anja Arbeiter; Rainer Büscher; Klaus-Eugen Bonzel; Anne-Margret Wingen; Udo Vester; Jeremias Wohlschläger; Klaus Zerres; Jens Nürnberger; Carsten Bergmann; Peter F Hoyer
Journal: Nephrol Dial Transplant Date: 2008-05-23 Impact factor: 5.992

4. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.

Authors: Kian Huat Lim; Luciana Ferraris; Madeleine E Filloux; Benjamin J Raphael; William G Fairbrother
Journal: Proc Natl Acad Sci U S A Date: 2011-06-17 Impact factor: 11.205

5. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Authors: Carsten Bergmann; Jan Senderek; Ellen Windelen; Fabian Küpper; Iris Middeldorf; Frank Schneider; Christian Dornia; Sabine Rudnik-Schöneborn; Martin Konrad; Claus P Schmitt; Tomas Seeman; Thomas J Neuhaus; Udo Vester; Jutta Kirfel; Reinhard Büttner; Klaus Zerres
Journal: Kidney Int Date: 2005-03 Impact factor: 10.612

Aberrant transcriptional regulation could explain phenotypic variability in autosomal recessive polycystic kidney disease.

Review 1. Mechanisms of alternative pre-messenger RNA splicing.

Review 2. Pre-messenger RNA processing and its regulation: a genomic perspective.

3. Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.

4. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.

5. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

6. Adaptable molecular interactions guide phosphorylation of the SR protein ASF/SF2 by SRPK1.

Review 7. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

8. The translational landscape of the splicing factor SRSF1 and its role in mitosis.

9. Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene.

10. Alternative isoform regulation in human tissue transcriptomes.

Review 1. Three-dimensional regulation of transcription.