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Literature DB >> 18973245

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Redouane Boulouiz¹, Yun Li, Hafid Soualhine, Omar Abidi, Abdelaziz Chafik, Gudrun Nürnberg, Christian Becker, Peter Nürnberg, Christian Kubisch, Bernd Wollnik, Abdelhamid Barakat.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2008 PMID： 18973245 DOI： 10.1002/ajmg.a.32525

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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8 in total

1. The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.

Authors: Majida Charif; Safaa Bounaceur; Omar Abidi; Halima Nahili; Hassan Rouba; Mostafa Kandil; Redouane Boulouiz; Abdelhamid Barakat
Journal: Mol Biol Rep Date: 2012-10-08 Impact factor: 2.316

2. Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.

Authors: Yuichiro Izumi; Ami Hamaguchi; Rei Miura; Terumasa Nakagawa; Miyuki Nakagawa; Ken Saida; Noriko Miyake; Yu Nagayoshi; Yutaka Kakizoe; Taku Miyoshi; Yukimasa Kohda; Yohei Misumi; Naomichi Matsumoto; Yukio Ando; Masashi Mukoyama
Journal: CEN Case Rep Date: 2019-11-01

Review 3. Autosomal recessive nonsyndromic deafness genes: a review.

Authors: Duygu Duman; Mustafa Tekin
Journal: Front Biosci (Landmark Ed) Date: 2012-06-01

4. Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees.

Authors: Amina Bakhchane; Majida Charif; Sara Salime; Redouane Boulouiz; Halima Nahili; Rachida Roky; Guy Lenaers; Abdelhamid Barakat
Journal: PLoS One Date: 2015-09-15 Impact factor: 3.240

5. Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.

Authors: Majida Charif; Redouane Boulouiz; Amina Bakhechane; Houda Benrahma; Halima Nahili; Abdelmajid Eloualid; Hassan Rouba; Mostafa Kandil; Omar Abidi; Guy Lenaers; Abdelhamid Barakat
Journal: Indian J Hum Genet Date: 2013-07

6. Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.

Authors: Haiyang Liu; Jianchao Li; Manmeet H Raval; Ningning Yao; Xiaoying Deng; Qing Lu; Si Nie; Wei Feng; Jun Wan; Christopher M Yengo; Wei Liu; Mingjie Zhang
Journal: Elife Date: 2016-01-19 Impact factor: 8.140

7. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Authors: Yun Li; Esther Pohl; Redouane Boulouiz; Margit Schraders; Gudrun Nürnberg; Majida Charif; Ronald J C Admiraal; Simon von Ameln; Ingelore Baessmann; Mostafa Kandil; Joris A Veltman; Peter Nürnberg; Christian Kubisch; Abdelhamid Barakat; Hannie Kremer; Bernd Wollnik
Journal: Am J Hum Genet Date: 2010-02-18 Impact factor: 11.025

Review 8. Cytoskeleton Molecular Motors: Structures and Their Functions in Neuron.

Authors: Qingpin Xiao; Xiaohui Hu; Zhiyi Wei; Kin Yip Tam
Journal: Int J Biol Sci Date: 2016-07-18 Impact factor: 6.580

8 in total