Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss (Q35136943)

6 August 2017

0 references

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss (English)

1 reference

6 August 2017

1 reference

3

1 reference

6 August 2017

15

Gudrun Nürnberg

0 references

Peter Nürnberg

17

object named as

Peter Nürnberg

1 reference

6 August 2017

Ignacio del Castillo

19

0 references

Ingo Kurth

object named as

Ingo Kurth

20

0 references

Janine Altmüller

7

object named as

Janine Altmüller

1 reference

6 August 2017

18

Christian A Hübner

1 reference

6 August 2017

6

Holger Thiele

1 reference

ORCID Public Data File 2021

6 August 2017

1 reference

author name string

Antje K Huebner

1

1 reference

6 August 2017

Marta Gandia

2

1 reference

6 August 2017

Anika Maak

4

1 reference

6 August 2017

Eva M Wicklein

5

1 reference

6 August 2017

Florian Wagner

8

1 reference

6 August 2017

Antonio Viñuela

9

1 reference

6 August 2017

Luis A Aguirre

10

1 reference

6 August 2017

Felipe Moreno

11

1 reference

6 August 2017

Hannes Maier

12

1 reference

6 August 2017

Isabella Rau

13

1 reference

6 August 2017

Sebastian Giesselmann

14

1 reference

6 August 2017

Andreas Gal

16

1 reference

6 August 2017

language of work or name

English

0 references

publication date

5 May 2011

1 reference

American Journal of Human Genetics

6 August 2017

published in

1 reference

6 August 2017

volume

88

1 reference

6 August 2017

issue

5

1 reference

6 August 2017

page(s)

621-627

1 reference

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

PRPS1 mutations: four distinct syndromes and potential treatment.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

A method and server for predicting damaging missense mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

The small GTPase Rac1 regulates auditory hair cell morphogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Hearing loss: mechanisms revealed by genetics and cell biology

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

The Sequence Alignment/Map format and SAMtools

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Linking genes underlying deafness to hair-bundle development and function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Fast and accurate short read alignment with Burrows-Wheeler transform

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Mechanotransduction gone awry

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Mapping short DNA sequencing reads and calling variants using mapping quality scores

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Dynamic length regulation of sensory stereocilia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Newborn hearing screening--a silent revolution

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Distribution and intensity of constraint in mammalian genomic sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Muscle costameric protein, Chisel/Smpx, associates with focal adhesion complexes and modulates cell spreading in vitro via a Rac1/p38 pathway.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Costameres: the Achilles' heel of Herculean muscle

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Exploring the neighborhood: adhesion-coupled cell mechanosensors.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Identification of a novel stretch-responsive skeletal muscle gene (Smpx)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Allegro, a new computer program for multipoint linkage analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Sensorineural hearing loss in insulin-like growth factor I-null mice: a new model of human deafness

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

Minocycline prevents gentamicin-induced ototoxicity by inhibiting p38 MAP kinase phosphorylation and caspase 3 activation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146719

HaploPainter: a tool for drawing pedigrees with complex haplotypes

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21549336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.04.007

1 reference

release_sj2dwzf4qrbavculu43knewl7m

6 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sj2dwzf4qrbavculu43knewl7m

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3146719

1 reference

6 August 2017

1 reference