Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
Haploinsufficiency for human EYA1, a homologue of the Drosophila melanogaster gene
eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) …
eyes absent (eya), results in the dominantly inherited disorders branchio-oto-renal (BOR) …
A novel nonsense mutation in the EYA1 gene associated with branchio‐oto‐renal/branchiootic syndrome in an Afrikaner kindred
JC Clarke, EM Honey, E Bekker, LC Snyman… - Clinical …, 2006 - Wiley Online Library
Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder characterized by
the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic …
the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic …
Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1
S Abdelhak, V Kalatzis, R Heilig… - Human molecular …, 1997 - academic.oup.com
Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder,
characterised by the association of branchial, otic and renal anomalies with variable …
characterised by the association of branchial, otic and renal anomalies with variable …
Six1 controls patterning of the mouse otic vesicle
H Ozaki, K Nakamura, J Funahashi, K Ikeda… - 2004 - journals.biologists.com
Six1 is a member of the Six family homeobox genes, which function as components of the
Pax-Six-Eya-Dach gene network to control organ development. Six1 is expressed in otic …
Pax-Six-Eya-Dach gene network to control organ development. Six1 is expressed in otic …
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome
Abstract Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder
characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of …
characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of …
Dysfunction of programmed embryo senescence is linked to genetic developmental defects
C De Lope, R García-Lucena, M Magariños… - …, 2023 - journals.biologists.com
Developmental senescence is a form of programmed senescence that contributes to
morphogenesis during embryonic development. We showed recently that the SIX1 …
morphogenesis during embryonic development. We showed recently that the SIX1 …
[HTML][HTML] Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
P Tang, J Li, J Li, J Yang, J Zhu - Medicine, 2022 - journals.lww.com
Background: Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder
characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in …
characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in …
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically
characterized by the coexistence of some or all of the following major disorders: deafness …
characterized by the coexistence of some or all of the following major disorders: deafness …
HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome
A Sanchez‐Valle, X Wang, L Potocki… - American Journal of …, 2010 - Wiley Online Library
Branchio‐oto‐renal syndrome is characterized by branchial defects, hearing loss,
preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of …
preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of …
Genetic and Pharmacological Interruption of the SIX1/EYA2 Axis Impairs Leukemia Proliferation
Background: The CALM-AF10 translocation is found in 5-10% of T-cell acute lymphoblastic
leukemias (T-ALL), and a subset of acute myeloid leukemias (AML). CALM-AF10 leukemias …
leukemias (T-ALL), and a subset of acute myeloid leukemias (AML). CALM-AF10 leukemias …