Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures (Q48106045)

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English	Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/29082607

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/29082607

Donna M. Martin

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yehoash Raphael

4

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Daniel I Choo

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Kareem O Tawfik

2

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

publication date

30 October 2017

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Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/29082607

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

175

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

4

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

439-449

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Harnessing molecular motors for nanoscale pulldown in live cells.

1 reference

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29 September 2018

Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Self-reported benefit, sound perception, and quality-of-life in patients with auditory brainstem implants (ABIs).

1 reference

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29 September 2018

Tmc gene therapy restores auditory function in deaf mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome

1 reference

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29 September 2018

Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness

1 reference

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29 September 2018

CHD7 maintains neural stem cell quiescence and prevents premature stem cell depletion in the adult hippocampus.

1 reference

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29 September 2018

Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice

1 reference

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29 September 2018

Outcomes of cochlear implantation in children with CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome

1 reference

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29 September 2018

The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors

1 reference

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Systems genetics implicates cytoskeletal genes in oocyte control of cloned embryo quality.

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29 September 2018

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

1 reference

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29 September 2018

Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy.

1 reference

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29 September 2018

Cochlear implantation in children with labyrinthine anomalies and cochlear nerve deficiency: implications for auditory brainstem implantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

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Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

1 reference

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29 September 2018

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

1 reference

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29 September 2018

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

CHD7 cooperates with PBAF to control multipotent neural crest formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

1 reference

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29 September 2018

Outcomes in nontumor adults fitted with the auditory brainstem implant: 10 years' experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

1 reference

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29 September 2018

Marinobufagenin induces increases in procollagen expression in a process involving protein kinase C and Fli-1: implications for uremic cardiomyopathy

1 reference

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29 September 2018

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

1 reference

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29 September 2018

Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics

1 reference

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29 September 2018

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1 reference

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29 September 2018

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

1 reference

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29 September 2018

Coxsackie adenovirus receptor and alpha nu beta3/alpha nu beta5 integrins in adenovirus gene transfer of rat cochlea.

1 reference

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29 September 2018

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

1 reference

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29 September 2018

Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

In vitro and in vivo suppression of GJB2 expression by RNA interference.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Early prognostic factors for intellectual outcome in CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Math1 gene transfer generates new cochlear hair cells in mature guinea pigs in vivo

1 reference

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29 September 2018

Gene transfer into supporting cells of the organ of Corti

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Cochlear implantation in children with CHARGE association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

CHARGE syndrome: a window of opportunity for audiologic intervention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

The Wheels mutation in the mouse causes vascular, hindbrain, and inner ear defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Otological manifestations of CHARGE association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

CHARGE association: an update and review for the primary pediatrician

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Vestibular abnormalities in charge association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Heterozygosity mapping of partially congenic lines: mapping of a semidominant neurological mutation, Wheels (Whl), on mouse chromosome 4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Clinical manifestations of CHARGE Association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5726934

29 September 2018

Mutagenesis and behavioral screening for altered circadian activity identifies the mouse mutant, Wheels

1 reference

https://pubmed.ncbi.nlm.nih.gov/29082607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29082607

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.C.31587

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29082607%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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