Neural crest contributions to the ear: Implications for congenital hearing disorders (Q62937932)

PubMed publication ID

30455064

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30455064%20AND%20SRC:MED&resulttype=core&format=json

4 May 2020

title

Neural crest contributions to the ear: Implications for congenital hearing disorders (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

K Elaine Ritter

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13 May 2020

publication date

14 November 2018

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PubMed publication ID

30455064

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30455064%20AND%20SRC:MED&resulttype=core&format=json

4 May 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

volume

376

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

page(s)

22-32

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Stapedial hypoplasia in partial DiGeorge's syndrome

13 May 2020

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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Role of the tympanic ring in the pathogenesis of congenital cholesteatoma.

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Microtia grade as an indicator of middle ear development in aural atresia

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Induction of the prospective neural crest of Xenopus.

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Cloning and expression analysis of a novel mesodermally expressed cadherin.

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Cadherin-11 expressed in association with mesenchymal morphogenesis in the head, somite, and limb bud of early mouse embryos

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Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest

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A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene

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Embryonic expression and cloning of the murine GATA-3 gene

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Ear malformation and hearing loss in patients with Treacher Collins syndrome

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Treacher Collins syndrome

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The mutational spectrum in Waardenburg syndrome.

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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

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Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

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Congenital malformations of the external auditory canal

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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Temporal and Spatial Control of Murine GATA-3 Transcription by Promoter-Proximal Regulatory Elements

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SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities

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Cloning, characterization, and mapping of the mouse homeobox gene Hmx1

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Otologic management in children with the CHARGE association

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Branchio-oto-renal syndrome

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Audiological abnormalities in the Klippel-Feil syndrome

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Localization of distant urogenital system-, central nervous system-, and endocardium-specific transcriptional regulatory elements in the GATA-3 locus

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Tympanic membrane/middle ear pathologic correlates in chronic otitis media

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Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development.

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Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia

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Regulation of the onset of neural crest migration by coordinated activity of BMP4 and Noggin in the dorsal neural tube.

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Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development

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Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

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Inhibition of noggin expression in the dorsal neural tube by somitogenesis: a mechanism for coordinating the timing of neural crest emigration.

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Homeotic transformation of branchial arch identity after Hoxa2 overexpression.

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Craniofacial‐deafness‐hand syndrome revisited

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Formation of the outer and middle ear, molecular mechanisms

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Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects

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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

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

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Tbx1 is required for proper neural crest migration and to stabilize spatial patterns during middle and inner ear development

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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

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Temporal requirement of Hoxa2 in cranial neural crest skeletal morphogenesis

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Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients

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12 December 2020

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

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12 December 2020

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

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12 December 2020

Hearing levels in patients with microtia: correlation with temporal bone malformation

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12 December 2020

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

1 reference

12 December 2020

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

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12 December 2020

Auditory brainstem response abnormalities and hearing loss in children with craniosynostosis

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12 December 2020

The tyrosinase enhancer is activated by Sox10 and Mitf in mouse melanocytes

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12 December 2020

Treacher Collins syndrome

1 reference

12 December 2020

Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans

1 reference

12 December 2020

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

1 reference

12 December 2020

TFAP2A mutations result in branchio-oculo-facial syndrome

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12 December 2020

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

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12 December 2020

Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal

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12 December 2020

Cellular characterization of Connexin26 and Connnexin30 expression in the cochlear lateral wall

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12 December 2020

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

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12 December 2020

Exome sequencing identifies the cause of a mendelian disorder

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12 December 2020

Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse

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12 December 2020

Review and update of mutations causing Waardenburg syndrome.

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12 December 2020

CHD7 cooperates with PBAF to control multipotent neural crest formation

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12 December 2020

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

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12 December 2020

N-cadherin and cadherin 11 modulate postnatal bone growth and osteoblast differentiation by distinct mechanisms.

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12 December 2020

Glial but not neuronal development in the cochleo-vestibular ganglion requires Sox10.

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12 December 2020

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

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12 December 2020

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

1 reference

12 December 2020

Pou3f4 deficiency causes defects in otic fibrocytes and stria vascularis by different mechanisms.

1 reference

12 December 2020

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

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12 December 2020

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

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12 December 2020

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

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12 December 2020

Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

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12 December 2020

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

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12 December 2020

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome

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12 December 2020

Auriculo-condylar syndrome. Confronting a diagnostic challenge

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12 December 2020

Dual embryonic origin of the mammalian otic vesicle forming the inner ear.

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12 December 2020

Cochlear gene therapy

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12 December 2020

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

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12 December 2020

Auditory function in children with Charcot-Marie-Tooth disease

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12 December 2020

Evolution of the mammalian middle ear and jaw: adaptations and novel structures

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12 December 2020

Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis

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12 December 2020

Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

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12 December 2020

Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis

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12 December 2020

Ectodermal-derived Endothelin1 is required for patterning the distal and intermediate domains of the mouse mandibular arch

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12 December 2020

Unmasking Kabuki syndrome

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12 December 2020

Cadherin dynamics during neural crest cell ontogeny

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12 December 2020

Dual origin of the epithelium of the mammalian middle ear.

1 reference

12 December 2020

Continued expression of GATA3 is necessary for cochlear neurosensory development

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12 December 2020

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

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12 December 2020

edn1 and hand2 Interact in early regulation of pharyngeal arch outgrowth during zebrafish development

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12 December 2020

Slit/Robo signaling mediates spatial positioning of spiral ganglion neurons during development of cochlear innervation.

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12 December 2020

Cranial neural crest cells form corridors prefiguring sensory neuroblast migration

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12 December 2020

Precise toxigenic ablation of intermediate cells abolishes the "battery" of the cochlear duct

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12 December 2020

Mouse Hoxa2 mutations provide a model for microtia and auricle duplication

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12 December 2020

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

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12 December 2020

Cochleovestibular nerve development is integrated with migratory neural crest cells

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12 December 2020

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

1 reference

12 December 2020

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

1 reference

12 December 2020

CHARGE syndrome: a review

1 reference

12 December 2020

Pax3 function is required specifically for inner ear structures with melanogenic fates.

1 reference

12 December 2020

Targeted deletion of Sox10 by Wnt1-cre defects neuronal migration and projection in the mouse inner ear

1 reference

12 December 2020

PAX3 gene deletion detected by microarray analysis in a girl with hearing loss

1 reference

12 December 2020

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment

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12 December 2020

The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research

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12 December 2020

Single-cell RNA-seq: advances and future challenges

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12 December 2020

Inner ear development: building a spiral ganglion and an organ of Corti out of unspecified ectoderm

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12 December 2020

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

1 reference

12 December 2020

Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

1 reference

12 December 2020

Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness

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12 December 2020

Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder

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12 December 2020

Cadherin-11 localizes to focal adhesions and promotes cell-substrate adhesion

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12 December 2020

A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons

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12 December 2020

Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome

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12 December 2020

Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.

1 reference

12 December 2020

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

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12 December 2020

A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

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12 December 2020

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

1 reference

12 December 2020

Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

1 reference

12 December 2020

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

1 reference

12 December 2020

BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation

1 reference

12 December 2020

Identification of mouse cochlear progenitors that develop hair and supporting cells in the organ of Corti

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12 December 2020

Inner ear ossification and mineralization kinetics in human embryonic development - microtomographic and histomorphological study.

1 reference

12 December 2020

COUP-TFII is required for morphogenesis of the neural crest-derived tympanic ring

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12 December 2020

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

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12 December 2020

An Eya1-Notch axis specifies bipotential epibranchial differentiation in mammalian craniofacial morphogenesis

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12 December 2020

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children

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12 December 2020

The adhesion molecule cadherin 11 is essential for acquisition of normal hearing ability through middle ear development in the mouse

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12 December 2020

Cochlear Gene Therapy for Sensorineural Hearing Loss: Current Status and Major Remaining Hurdles for Translational Success.

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12 December 2020

10.1016/J.HEARES.2018.11.005

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json

13 May 2020

PubMed publication ID

30455064

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6456423&resulttype=core&format=json