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Laryngoscope, ISSN 0023-852X, 2019
Branchio-oto-renal (BOR) syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies, whereas patients with all... 
epilepsy | branchio-oto-renal syndrome | CNV | hearing loss | EYA1
Journal Article
JAMA Pediatrics, ISSN 2168-6203, 04/2018, Volume 172, Issue 4, pp. 386 - 387
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 01/2019, Volume 21, Issue 1, pp. 138 - 148
Enlarged vestibular aqueduct (EVA) is an inner-ear malformation associated with sensorineural hearing impairment. Most EVAs are associated with Pendred... 
HEARING-LOSS | PENDRED-SYNDROME | FREQUENCIES | UNIQUE SPECTRUM | EYA1 | MOLECULAR DIAGNOSIS | SLC26A4 MUTATIONS | PATHOLOGY | RETINITIS-PIGMENTOSA | CHILDREN | DELETION
Journal Article
AJNR. American journal of neuroradiology, ISSN 0195-6108, 12/2018, Volume 39, Issue 12, pp. 2345 - 2349
BACKGROUND AND PURPOSE: Branchio-oto-renal syndrome is an important syndromic cause of hearing loss. Our aim was to determine the test characteristics of the... 
BOR SYNDROME | SENSORINEURAL HEARING-LOSS | EYA1 | ANOMALIES | TEMPORAL BONE FINDINGS | NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CLINICAL NEUROLOGY | FAMILY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome... 
CAKUT | SETBP1 | EYA1 | SIX5 | WNT5A | HSPA4L | HNF1B | GATA3 | PAX2 | GENETIC-VARIATION | ANOMALIES | ABNORMALITIES | URINARY-TRACT | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | RISK | RENAL HYPODYSPLASIA | EPIDEMIOLOGY | CHILDREN
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2018, Volume 63, Issue 5, pp. 647 - 656
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of... 
BOR SYNDROME | SALL1 | EYA1 | SIX2 | GENES | GENETICS & HEREDITY | KIDNEY DEVELOPMENT | MUTATIONS
Journal Article
Journal Article
Developmental dynamics : an official publication of the American Association of Anatomists, ISSN 1058-8388, 7/2015, Volume 244, Issue 7, pp. 866 - 873
Journal Article
Journal Article
Practica Otologica, Supplement, ISSN 0912-1870, 2018, Volume 152, pp. 106 - 107
Journal Article
Developmental Cell, ISSN 1534-5807, 02/2012, Volume 22, Issue 2, pp. 377 - 390
Inner-ear hair cell differentiation requires function, while , , and are coexpressed in sensory progenitors and mutations in these genes cause sensorineural... 
MATH1 | BRANCHIOOTORENAL BOR SYNDROME | GENE | MAMMALIAN INNER-EAR | DROSOPHILA-EYES-ABSENT | CRE RECOMBINASE | SIX1 | DEVELOPMENTAL BIOLOGY | MUTATIONS | ORGAN | CORTI | CELL BIOLOGY | Hair Cells, Auditory - metabolism | Phosphorylation | Immunoprecipitation | Homeodomain Proteins - metabolism | Protein Tyrosine Phosphatases - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Embryo, Mammalian - metabolism | Immunoenzyme Techniques | SOXB1 Transcription Factors - metabolism | Protein Tyrosine Phosphatases - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Chromatin Immunoprecipitation | SOXB1 Transcription Factors - genetics | Cochlea - metabolism | Gene Expression Regulation, Developmental | Cell Differentiation | Electrophoretic Mobility Shift Assay | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Electroporation | Nuclear Proteins - metabolism | Cochlea - cytology | Mutation - genetics | Blotting, Western | Homeodomain Proteins - genetics | Animals | Embryo, Mammalian - cytology | Mice | Proteins | Genes | Genetic transcription | Explants | Enhancers | Transcription | Eya1 protein | Hair cells | Stem cells | Cochlea | Mutation | Differentiation | Epithelium | Hearing loss
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 07/2019, Volume 10, p. 650
We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a... 
otofaciocervical syndrome | 6q23 deletion | EYA1 | array CGH | EYA4 | MUTATION | GENETICS & HEREDITY | PATIENT | DEAFNESS | PROTEINS | Genetic research | Branchio-Oto-Renal syndrome | Research | Diagnosis | Gene expression
Journal Article
Practica Oto-Rhino-Laryngologica, ISSN 0032-6313, 2017, Volume 110, Issue 9, pp. 629 - 635
Journal Article
International Review of Cell and Molecular Biology, ISSN 1937-6448, 2010, Volume 283, Issue C, pp. 129 - 234
Journal Article
DEVELOPMENTAL BIOLOGY, ISSN 0012-1606, 01/2017, Volume 421, Issue 2, pp. 171 - 182
Mutations in SIX1 and in its co-factor, EYA1, underlie Branchiootorenal Spectrum disorder (BOS), which is characterized by variable branchial arch, otic and... 
Plfap | DROSOPHILA VISUAL-SYSTEM | INNER-EAR | Eya1 | Branchiootorenal | SIX1 | DEVELOPMENTAL BIOLOGY | CELL FATE | BRANCHIOOTORENAL SYNDROME | XENOPUS-LAEVIS | SINE-OCULIS | CRANIAL PLACODES | ERBB-3 BINDING-PROTEIN | 6 FAMILY GENES | EYE DEVELOPMENT | Ebp1
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 08/2019, Volume 123, pp. 141 - 145
Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of... 
Mutation | EYA1 | Branchio-Oto syndrome | Targeted next-generation sequencing | Chinese Hans | BOR SYNDROME | OTORHINOLARYNGOLOGY | SPLICE-SITE MUTATION | SIX1 | PEDIATRICS | Deafness | Medical colleges | Deaf | Genetic research | Family | Genetic aspects | Nucleotide sequencing | DNA sequencing
Journal Article
Oncotarget, ISSN 1949-2553, 2017, Volume 8, Issue 62, pp. 105081 - 105092
EYA1 is a DNA repair enzyme that is induced after DNA damage and is upregulated in melanoma. However, its role in pathogenesis and therapeutic targeting of... 
Biomarker | Benzbromarone | EYA1 | Melanoma | Chromatin remodeling | SURVIVAL | MIGRATION | CUTANEOUS MALIGNANT-MELANOMA | APOPTOSIS | benzbromarone | ANGIOGENESIS | chromatin remodeling | melanoma | biomarker | CELL BIOLOGY | METASTATIC MELANOMA | ONCOLOGY | PROGNOSTIC-SIGNIFICANCE | EXPRESSION | PROGRESSION
Journal Article
American Journal of Translational Research, ISSN 1943-8141, 2019, Volume 11, Issue 4, pp. 2328 - 2338
Hepatocellular carcinoma (HCC) patients are at high risk for both local recurrence and distant metastasis and tightly associated with poor prognosis. Exploring... 
FNDC3B | Hepatocellular carcinoma | EYA1 | Tumor growth | EMT | MEDICINE, RESEARCH & EXPERIMENTAL | COMPLEX | PHOSPHATASE | PROLIFERATION | CANCER | ADHESION | TARGET GENES | ONCOLOGY | tumor growth | EXPRESSION | hepatocellular carcinoma
Journal Article
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