Cargando…
New Genetic Variants in CYP2B6 and SLC6A Support the Role of Oxidative Stress in Familial Ménière’s Disease
The objective was to study the genetic etiology of Ménière’s disease (MD) using next-generation sequencing in three families with three cases of MD. Whole exome sequencing was used to identify rare genetic variants co-segregating with MD in Finnish families. In silico estimations and population data...
Autores principales: | Skarp, Sini, Korvala, Johanna, Kotimäki, Jouko, Sorri, Martti, Männikkö, Minna, Hietikko, Elina |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222295/ https://www.ncbi.nlm.nih.gov/pubmed/35741759 http://dx.doi.org/10.3390/genes13060998 |
Ejemplares similares
-
A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients
por: Parviainen, Roope, et al.
Publicado: (2020) -
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
por: Costantini, Alice, et al.
Publicado: (2018) -
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion
por: Skarp, Sini, et al.
Publicado: (2020) -
TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway
por: Sliz, Eeva, et al.
Publicado: (2017) -
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis
por: Skarp, Sini, et al.
Publicado: (2018)