Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus (Q28283551)

12

Saima Riazuddin

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Richard J Smith

11

Richard J H Smith

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Sheikh Riazuddin

14

Sheikh Riazuddin

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Shaheen Khan

10

Shaheen N Khan

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Shin-Ichiro Kitajiri

4

Shin-ichiro Kitajiri

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Saba Tasneem

6

Saba Tasneem

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Arabandi Ramesh

8

Arabandi Ramesh

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Srikumari Srisailpathy

9

Srikumari Srisailpathy

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author name string

Shahid Y Khan

1

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Zubair M Ahmed

2

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Muhammad I Shabbir

3

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Saeeda Kalsoom

5

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Sara Shayiq

Moesin, ezrin, and p205 are actin-binding proteins associated with neutrophil plasma membranes

7

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language of work or name

English

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publication date

May 2007

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published in

Human Mutation

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volume

28

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issue

5

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page(s)

417-23

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cites work

1 reference

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Mutations of MYO6 are associated with recessive deafness, DFNB37

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Parallel actin bundles and their multiple actin-bundling proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

ERM proteins and merlin: integrators at the cell cortex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Ion transport proteins anchor and regulate the cytoskeleton

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Human Nonsyndromic Sensorineural Deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Genetic insights into the morphogenesis of inner ear hair cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Insights into a Single Rod-like Helix in Activated Radixin Required for Membrane−Cytoskeletal Cross-Linking

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Structural conversion between open and closed forms of radixin: low-angle shadowing electron microscopy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Cortical actin organization: lessons from ERM (ezrin/radixin/moesin) proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Ezrin has a COOH-terminal actin-binding site that is conserved in the ezrin protein family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021

The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20469

7 January 2021