Literature DB >> 19215054

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

A Eliot Shearer1, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster, Batool Azadeh, William J Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard J H Smith, Melanie Bahlo.   

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Year:  2009        PMID： 19215054      PMCID： PMC2650742          DOI： 10.1002/ajmg.a.32670

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


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  14 in total

1.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

2.  A high-resolution recombination map of the human genome.

Authors:  Augustine Kong; Daniel F Gudbjartsson; Jesus Sainz; Gudrun M Jonsdottir; Sigurjon A Gudjonsson; Bjorgvin Richardsson; Sigrun Sigurdardottir; John Barnard; Bjorn Hallbeck; Gisli Masson; Adam Shlien; Stefan T Palsson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Kari Stefansson
Journal:  Nat Genet       Date:  2002-06-10       Impact factor: 38.330

3.  Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.

Authors:  Xiaojun Di; Hajime Matsuzaki; Teresa A Webster; Earl Hubbell; Guoying Liu; Shoulian Dong; Dan Bartell; Jing Huang; Richard Chiles; Geoffrey Yang; Mei-mei Shen; David Kulp; Giulia C Kennedy; Rui Mei; Keith W Jones; Simon Cawley
Journal:  Bioinformatics       Date:  2005-01-18       Impact factor: 6.937

4.  A genotype calling algorithm for affymetrix SNP arrays.

Authors:  Nusrat Rabbee; Terence P Speed
Journal:  Bioinformatics       Date:  2005-11-02       Impact factor: 6.937

5.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

Authors:  M B Shapiro; P Senapathy
Journal:  Nucleic Acids Res       Date:  1987-09-11       Impact factor: 16.971

6.  Comprehensive human genetic maps: individual and sex-specific variation in recombination.

Authors:  K W Broman; J C Murray; V C Sheffield; R L White; J L Weber
Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025

Review 7.  Sensorineural hearing loss in children.

Authors:  Richard J H Smith; James F Bale; Karl R White
Journal:  Lancet       Date:  2005 Mar 5-11       Impact factor: 79.321

8.  Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes.

Authors:  Shojiro Kikuchi; Masaki Hata; Kanehisa Fukumoto; Yukari Yamane; Takeshi Matsui; Atsushi Tamura; Shigenobu Yonemura; Hisakazu Yamagishi; Dietrich Keppler; Shoichiro Tsukita; Sachiko Tsukita
Journal:  Nat Genet       Date:  2002-06-17       Impact factor: 38.330

9.  Radixin is a constituent of stereocilia in hair cells.

Authors:  F Pataky; R Pironkova; A J Hudspeth
Journal:  Proc Natl Acad Sci U S A       Date:  2004-02-24       Impact factor: 11.205

10.  Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.

Authors:  Shin-ichiro Kitajiri; Kanehisa Fukumoto; Masaki Hata; Hiroyuki Sasaki; Tatsuya Katsuno; Takayuki Nakagawa; Juichi Ito; Shoichiro Tsukita; Sachiko Tsukita
Journal:  J Cell Biol       Date:  2004-08-16       Impact factor: 10.539
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  8 in total

1.  CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity.

Authors:  Binytha Wegner; Abass Al-Momany; Stephen C Kulak; Kathy Kozlowski; Marya Obeidat; Nadia Jahroudi; John Paes; Mark Berryman; Barbara J Ballermann
Journal:  Am J Physiol Renal Physiol       Date:  2010-03-24

Review 2.  Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Authors:  Maryam Beheshtian; Mojgan Babanejad; Hela Azaiez; Niloofar Bazazzadegan; Diana Kolbe; Christina Sloan-Heggen; Sanaz Arzhangi; Kevin Booth; Marzieh Mohseni; Kathy Frees; Mohammad Hossein Azizi; Ahmad Daneshi; Mohammad Farhadi; Kimia Kahrizi; Richard Jh Smith; Hossein Najmabadi
Journal:  Arch Iran Med       Date:  2016-10-01       Impact factor: 1.354

3.  CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI.

Authors:  Felipe T Salles; Leonardo R Andrade; Soichi Tanda; M'hamed Grati; Kathleen L Plona; Leona H Gagnon; Kenneth R Johnson; Bechara Kachar; Mark A Berryman
Journal:  Cytoskeleton (Hoboken)       Date:  2013-12-10

4.  The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

Authors:  Christian Vogl; Tanvi Butola; Natja Haag; Torben J Hausrat; Michael G Leitner; Michel Moutschen; Philippe P Lefèbvre; Carsten Speckmann; Lillian Garrett; Lore Becker; Helmut Fuchs; Martin Hrabe de Angelis; Sandor Nietzsche; Michael M Kessels; Dominik Oliver; Matthias Kneussel; Manfred W Kilimann; Nicola Strenzke
Journal:  EMBO Rep       Date:  2017-09-11       Impact factor: 8.807

Review 5.  Autosomal recessive nonsyndromic deafness genes: a review.

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

6.  Radixin modulates the function of outer hair cell stereocilia.

Authors:  Sonal Prasad; Barbara Vona; Marta Diñeiro; María Costales; Rocío González-Aguado; Ana Fontalba; Clara Diego-Pérez; Asli Subasioglu; Guney Bademci; Mustafa Tekin; Rubén Cabanillas; Juan Cadiñanos; Anders Fridberger
Journal:  Commun Biol       Date:  2020-12-23

7.  Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Authors:  Kwanghyuk Lee; Mohammad Amin Ud Din; Muhammad Ansar; Regie Lyn P Santos-Cortez; Wasim Ahmad; Suzanne M Leal
Journal:  Genet Res Int       Date:  2011-11-01

8.  Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.

Authors:  Masoud Akbarzadeh Laleh; Marzieh Naseri; Ali Akbar Poursadegh Zonouzi; Ahmad Poursadegh Zonouzi; Marjan Masoudi; Najmeh Ahangari; Leila Shams; Azim Nejatizadeh
Journal:  J Res Med Sci       Date:  2017-08-16       Impact factor: 1.852
  8 in total

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