Modifier variant of METTL13 suppresses human GAB1-associated profound deafness (Q48510407)

6 July 2018

title

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness (English)

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6 July 2018

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3

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6 July 2018

Thomas B. Friedman

9

Thomas B Friedman

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6 July 2018

Saima Riazuddin

10

Saima Riazuddin

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6 July 2018

Robert J. Morell

4

Robert J Morell

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6 July 2018

Sheikh Riazuddin

8

Sheikh Riazuddin

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6 July 2018

Rizwan Yousaf

1

Rizwan Yousaf

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6 July 2018

Ayala Lagziel

5

Ayala Lagziel

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6 July 2018

author name string

Zubair M Ahmed

2

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6 July 2018

Alain Dabdoub

6

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6 July 2018

Edward R Wilcox

7

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6 July 2018

language of work or name

English

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publication date

12 March 2018

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6 July 2018

Journal of Clinical Investigation

published in

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6 July 2018

volume

128

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6 July 2018

issue

4

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6 July 2018

page(s)

1509-1522

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6 July 2018

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5873844/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Harnessing molecular motors for nanoscale pulldown in live cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Analysis of protein-coding genetic variation in 60,706 humans

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A global reference for human genetic variation

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A novel potent tumour promoter aberrantly overexpressed in most human cancers

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A framework for variation discovery and genotyping using next-generation DNA sequencing data

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

MutationTaster evaluates disease-causing potential of sequence alterations

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A method and server for predicting damaging missense mutations

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Fast and accurate short read alignment with Burrows-Wheeler transform

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A primer for morpholino use in zebrafish.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

High-resolution in situ hybridization to whole-mount zebrafish embryos

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Distinct requirements for Gab1 in Met and EGF receptor signaling in vivo

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Sprouty2 binds Grb2 at two different proline-rich regions, and the mechanism of ERK inhibition is independent of this interaction

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Tricellulin is a tight-junction protein necessary for hearing

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A disorganized innervation of the inner ear persists in the absence of ErbB2.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

SNPs3D: candidate gene and SNP selection for association studies.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

The "Gab" in signal transduction.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

The role of gene-environment interaction in the aetiology of human cancer: examples from cancers of the large bowel, lung and breast.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Early-onset Alzheimer's disease in Scotland: environmental and familial factors.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

NeuroD-null mice are deaf due to a severe loss of the inner ear sensory neurons during development

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Essential role of Gab1 for signaling by the c-Met receptor in vivo

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Coupling of Gab1 to c-Met, Grb2, and Shp2 mediates biological responses

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Candidate locus for a nuclear modifier gene for maternally inherited deafness

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Genotype and phenotype in cystic fibrosis

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Gab-1-mediated IGF-1 signaling in IRS-1-deficient 3T3 fibroblasts

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A novel positive feedback loop mediated by the docking protein Gab1 and phosphatidylinositol 3-kinase in epidermal growth factor receptor signaling

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Functional variants in the lipoprotein lipase gene and risk cardiovascular disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

ErbB3 is required for normal cerebellar and cardiac development: a comparison with ErbB2-and heregulin-deficient mice

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Severe neuropathies in mice with targeted mutations in the ErbB3 receptor

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

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

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Sonic hedgehog mediates the polarizing activity of the ZPA

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Congenital deafness and multiple lentigines. A report of cases in a mother and daughter

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Survival of adult spiral ganglion neurons requires erbB receptor signaling in the inner ear.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Genetic modifiers of hereditary hearing loss.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Cochlear abnormalities in insulin-like growth factor-1 mouse mutants.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

A pathway model of lipid metabolism to predict the effect of genetic variability on lipid levels.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Protein gene product 9.5 in the developing cochlea of the rat: cellular distribution and relation to the cochlear cytoskeleton.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5873844

Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

14 August 2018

1 reference

12 December 2020

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

12 December 2020

Delayed inner ear maturation and neuronal loss in postnatal Igf-1-deficient mice

1 reference

12 December 2020

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

1 reference

12 December 2020

https://api.fatcat.wiki/v0/release/qbtmnis5qbcndgamxcad4632te

Identifiers

1 reference

30 July 2022

release_qbtmnis5qbcndgamxcad4632te

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/qbtmnis5qbcndgamxcad4632te

30 July 2022

https://api.fatcat.wiki/v0/release/qbtmnis5qbcndgamxcad4632te

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30 July 2022

https://api.fatcat.wiki/v0/release/qbtmnis5qbcndgamxcad4632te

PubMed publication ID

1 reference

30 July 2022