Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. - Wikidata - awgldk - TriplyDB

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

http://www.wikidata.org/entity/Q37065180

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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans Structure-function analyses of the human SIX1–EYA2 complex reveal insights into metastasis and BOR syndrome Genome-wide analysis of gene expression in primate taste buds reveals links to diverse processes Growth mixture modelling in families of the Framingham Heart Study EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.The SIX1-EYA transcriptional complex as a therapeutic target in cancer.Eya2 is required to mediate the pro-metastatic functions of Six1 via the induction of TGF-β signaling, epithelial-mesenchymal transition, and cancer stem cell properties.Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.The canonical wnt signal restricts the glycogen synthase kinase 3/fbw7-dependent ubiquitination and degradation of eya1 phosphatase.No eye for ears.The homeoprotein SIX1 controls cellular senescence through the regulation of p16INK4A and differentiation-related genes.Germinal mosaicism in a family with BO syndrome.Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.Negative regulation of endothelin signaling by SIX1 is required for proper maxillary development.A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Novel EYA1 variants causing Branchio-oto-renal syndrome.[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

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Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

http://www.wikidata.org/entity/Q37065180

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article científic

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article scientifique

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articolo scientifico

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bilimsel makale

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scientific article published on April 2008

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vetenskaplig artikel

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vědecký článek

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... he mutational genetics of BOR.

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Branchio-oto-renal syndrome (B ...... the mutational genetics of BOR

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Cor W R J Cremers

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Dana J Orten

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Henri A M Marres

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Jessica L Sorensen

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Katherine O Welch

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Stephanie M Fischer

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Uppala Radhakrishna

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William J Kimberling

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P2860

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

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

Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

Folic acid supplements and risk of facial clefts: national population based case-control study

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

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537-544

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scholarly article

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10.1002/HUMU.20691

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4

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29

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Richard J Smith

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2008-04-01T00:00:00Z

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5632080

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18220287

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