Cargando…

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable numbe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Mengnan, Nishio, Shin-ya, Naruse, Chie, Riddell, Meghan, Sapski, Sabrina, Katsuno, Tatsuya, Hikita, Takao, Mizapourshafiyi, Fatemeh, Smith, Fiona M., Cooper, Leanne T., Lee, Min Goo, Asano, Masahide, Boettger, Thomas, Krueger, Marcus, Wietelmann, Astrid, Graumann, Johannes, Day, Bryan W., Boyd, Andrew W., Offermanns, Stefan, Kitajiri, Shin-ichiro, Usami, Shin-ichi, Nakayama, Masanori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067772/ https://www.ncbi.nlm.nih.gov/pubmed/32165640 http://dx.doi.org/10.1038/s41467-020-15198-9

Ejemplares similares

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question
por: Tesolin, Paola, et al.
Publicado: (2021)

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant
por: Kitano, Tomohiro, et al.
Publicado: (2019)

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
por: Fujioka, Masato, et al.
Publicado: (2020)

Pendred syndrome with hyperthyroidism
por: Kusano, Yoshiro
Publicado: (2020)

Tricellular Tight Junctions in the Inner Ear
por: Kitajiri, Shin-ichiro, et al.
Publicado: (2016)

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants
por: Hiramatsu, Ken, et al.
Publicado: (2021)

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo−Pendred Syndrome?
por: Kara, Cengiz, et al.
Publicado: (2010)

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
por: Ganaha, Akira, et al.
Publicado: (2013)

Evidence That the EphA2 Receptor Exacerbates Ischemic Brain Injury
por: Thundyil, John, et al.
Publicado: (2013)

Life-threatening metabolic alkalosis in Pendred syndrome
por: Kandasamy, Narayanan, et al.
Publicado: (2011)

Deficiency of Angulin-2/ILDR1, a Tricellular Tight Junction-Associated Membrane Protein, Causes Deafness with Cochlear Hair Cell Degeneration in Mice
por: Higashi, Tomohito, et al.
Publicado: (2015)

Digenic inheritance in medical genetics
por: Schäffer, Alejandro A
Publicado: (2013)

ENAM mutations and digenic inheritance
por: Zhang, Hong, et al.
Publicado: (2019)

Hoffmann’s Syndrome Secondary to Pendred Syndrome: A Rare Case
por: Tahir, Faryal, et al.
Publicado: (2019)

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
por: Skrivan, Jiri, et al.
Publicado: (2021)

Digenic Inheritance in Cystinuria Mouse Model
por: Espino, Meritxell, et al.
Publicado: (2015)

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
por: König, Eva, et al.
Publicado: (2017)

Understanding mutational effects in digenic diseases
por: Gazzo, Andrea, et al.
Publicado: (2017)

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss
por: Oka, Shin-ichiro, et al.
Publicado: (2020)

Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells
por: Kitajiri, Shin-ichiro, et al.
Publicado: (2014)

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis
por: Steen, Erica A., et al.
Publicado: (2021)

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model
por: Jabba, Sairam V, et al.
Publicado: (2006)

Goiter and hearing impairment: A case of a male patient with Pendred syndrome
por: HU, ER-WEI, et al.
Publicado: (2014)

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population
por: Taniguchi, Mirei, et al.
Publicado: (2015)

The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification
por: Nishio, Shin‐ya, et al.
Publicado: (2017)

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
por: Nishio, Shin-ya, et al.
Publicado: (2021)

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
por: Usami, Shin-ichi, et al.
Publicado: (2021)

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
por: Nishio, Shin-ya, et al.
Publicado: (2022)

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
por: Zhang, Chuan, et al.
Publicado: (2020)

The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
por: Maler, Neal, et al.
Publicado: (2021)

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
por: Lu, Ya-Ting, et al.
Publicado: (2022)

Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss
por: Ueyama, Takehiko, et al.
Publicado: (2016)

DIDA: A curated and annotated digenic diseases database
por: Gazzo, Andrea M., et al.
Publicado: (2016)

Non-collagen genes role in digenic Alport syndrome
por: Daga, S., et al.
Publicado: (2019)

Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family
por: Riahi, Kourosh, et al.
Publicado: (2021)

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting
por: Petzold, Friederike, et al.
Publicado: (2023)

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study
por: Miyagawa, Maiko, et al.
Publicado: (2012)

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening
por: Yano, Takuya, et al.
Publicado: (2014)

Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
por: Miyagawa, Maiko, et al.
Publicado: (2014)

A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology
por: Miyagawa, Maiko, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_r77krrlt2itk5kfu1qqcivqi1n