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Literature DB >> 14717907

Ear and kidney syndromes: molecular versus clinical approach.

Hassane Izzedine¹, Frederic Tankere, Vincent Launay-Vacher, Gilbert Deray.

Abstract

The association between ear and kidney anomalies is not usually due to an insult to the embryo. In recent years, many essential development control genes that coordinate the assembly and function of kidney and ear have been discovered through the generation of animal mutants and have increased our understanding of the mechanisms of human oto-renal diseases. Here, we describe ear and kidney clinical syndromes and their molecular expression.

Entities: Disease Species

Mesh：

Year: 2004 PMID： 14717907 DOI： 10.1111/j.1523-1755.2004.00390.x

Source DB: PubMed Journal: Kidney Int ISSN： 0085-2538 Impact factor: 10.612

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Cited

20 in total

1. Genotype-phenotype correlation in X-linked Alport syndrome.

Authors: Mir Reza Bekheirnia; Berenice Reed; Martin C Gregory; Kim McFann; Alireza Abdollah Shamshirsaz; Amirali Masoumi; Robert W Schrier
Journal: J Am Soc Nephrol Date: 2010-04-08 Impact factor: 10.121

2. Uremia presented as acute cranial neuropathy.

Authors: Wook Hur; Ji Yeon Chung; Pahn Kyu Choi; Hyun Goo Kang
Journal: Neurol Sci Date: 2019-02-01 Impact factor: 3.307

3. Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations.

Authors: Angela M Meyer zum Gottesberge; Heidi Felix
Journal: Histochem Cell Biol Date: 2005-07-26 Impact factor: 4.304

4. SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation.

Authors: Xuguang Nie; Jianbo Sun; Ronald E Gordon; Chen-Leng Cai; Pin-Xian Xu
Journal: Development Date: 2010-01-28 Impact factor: 6.868

5. Novel EYA1 variants causing Branchio-oto-renal syndrome.

Authors: Kyle D Klingbeil; Christopher M Greenland; Selcuk Arslan; Arianne Llamos Paneque; Hakan Gurkan; Selma Demir Ulusal; Reza Maroofian; Andrea Carrera-Gonzalez; Stefany Montufar-Armendariz; Rosario Paredes; Nursel Elcioglu; Ibis Menendez; Mahdiyeh Behnam; Joseph Foster; Shengru Guo; Sebastian Escarfuller; Filiz Basak Cengiz; Duygu Duman; Guney Bademci; Mustafa Tekin
Journal: Int J Pediatr Otorhinolaryngol Date: 2017-04-26 Impact factor: 1.675

6. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Authors: Bethan E Hoskins; Carl H Cramer; Derek Silvius; Dan Zou; Richard M Raymond; Dana J Orten; William J Kimberling; Richard J H Smith; Dominique Weil; Christine Petit; Edgar A Otto; Pin-Xian Xu; Friedhelm Hildebrandt
Journal: Am J Hum Genet Date: 2007-02-22 Impact factor: 11.025

Ear and kidney syndromes: molecular versus clinical approach.

1. Genotype-phenotype correlation in X-linked Alport syndrome.

2. Uremia presented as acute cranial neuropathy.

3. Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations.

4. SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation.

5. Novel EYA1 variants causing Branchio-oto-renal syndrome.

6. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

7. Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

8. Hyaluronan up-regulation is linked to renal dysfunction and hearing loss induced by silver nanoparticles.

9. SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.

10. Drug-related nephrotoxic and ototoxic reactions : a link through a predictive mechanistic commonality.