Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
出版年份 2023 全文链接
标题
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
作者
关键词
-
出版物
Nature Communications
Volume 14, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2023-01-19
DOI
10.1038/s41467-022-32936-3
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- FinnGen provides genetic insights from a well-phenotyped isolated population
- (2023) Mitja I. Kurki et al. NATURE
- LocusZoom.js: interactive and embeddable visualization of genetic association study results
- (2021) Andrew P Boughton et al. BIOINFORMATICS
- ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease
- (2021) Pyry Helkkula et al. PLoS Genetics
- A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
- (2021) Allan Thomas Højland et al. HUMAN GENETICS
- A compendium of uniformly processed human gene expression and splicing quantitative trait loci
- (2021) Nurlan Kerimov et al. NATURE GENETICS
- A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
- (2021) Nelly Abdelfatah et al. HUMAN GENETICS
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- A simple new approach to variable selection in regression, with application to genetic fine mapping
- (2020) Gao Wang et al. JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- (2020) Cristopher V. Van Hout et al. NATURE
- MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk
- (2020) Ida Surakka et al. Nature Communications
- Postnatal Expression and Possible Function of RANK and RANKL in the Murine Inner Ear
- (2020) Shyan-Yuan Kao et al. BONE
- TGF β-1 and WNT signaling pathways collaboration associated with cochlear implantation trauma-induced fibrosis
- (2019) Esperanza Bas et al. Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology
- Regulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2
- (2019) Toshihisa Komori INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Insufficient evidence for a role of SERPINF1 in otosclerosis
- (2019) Hanne Valgaeren et al. MOLECULAR GENETICS AND GENOMICS
- Proteome of normal human perilymph and perilymph from people with disabling vertigo
- (2019) Hsiao-Chun Lin et al. PLoS One
- Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population
- (2018) Andrew J. Mowat et al. HUMAN GENETICS
- Otosclerosis
- (2018) Alicia M. Quesnel et al. OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
- Otosclerosis
- (2018) Thomas A. Babcock et al. OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
- Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
- (2018) Wei Zhou et al. NATURE GENETICS
- ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci
- (2018) David Stacey et al. NUCLEIC ACIDS RESEARCH
- Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
- (2018) Isabelle Schrauwen et al. GENETICS IN MEDICINE
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- SumHer better estimates the SNP heritability of complex traits from summary statistics
- (2018) Doug Speed et al. NATURE GENETICS
- Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
- (2017) Mario Mitt et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
- (2017) Michael R. Bowl et al. Nature Communications
- Colocalization of GWAS and eQTL Signals Detects Target Genes
- (2016) Farhad Hormozdiari et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
- (2016) Jie Zheng et al. BIOINFORMATICS
- High-throughput discovery of novel developmental phenotypes
- (2016) Mary E. Dickinson et al. NATURE
- Reference-based phasing using the Haplotype Reference Consortium panel
- (2016) Po-Ru Loh et al. NATURE GENETICS
- Otosclerosis Associated with a De Novo Mutation −832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level
- (2016) Saurabh Priyadarshi et al. Scientific Reports
- The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
- (2015) Marije E. C. Meuwissen et al. GENETICS IN MEDICINE
- The pathophysiology of otosclerosis: Review of current research
- (2015) M. Rudic et al. HEARING RESEARCH
- Latent TGF-β-binding proteins
- (2015) Ian B. Robertson et al. MATRIX BIOLOGY
- An atlas of genetic correlations across human diseases and traits
- (2015) Brendan Bulik-Sullivan et al. NATURE GENETICS
- LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
- (2015) Brendan K Bulik-Sullivan et al. NATURE GENETICS
- MAGMA: Generalized Gene-Set Analysis of GWAS Data
- (2015) Christiaan A. de Leeuw et al. PLoS Computational Biology
- Second-generation PLINK: rising to the challenge of larger and richer datasets
- (2015) Christopher C Chang et al. GigaScience
- The Molecular Signatures Database Hallmark Gene Set Collection
- (2015) Arthur Liberzon et al. Cell Systems
- Bone marrow mesenchymal stem cells and TGF-β signaling in bone remodeling
- (2014) Janet L. Crane et al. JOURNAL OF CLINICAL INVESTIGATION
- A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine
- (2014) Masahiro Nakajima et al. NATURE GENETICS
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- (2014) Elaine T. Lim et al. PLoS Genetics
- Genetic Association and Gene Expression Profiles of TGFB1 and the Contribution of TGFB1 to Otosclerosis Susceptibility
- (2013) Saurabh Priyadarshi et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Loss of osteoprotegerin expression in the inner ear causes degeneration of the cochlear nerve and sensorineural hearing loss
- (2013) Shyan-Yuan Kao et al. NEUROBIOLOGY OF DISEASE
- An Introduction of Genetics in Otosclerosis
- (2013) Arnold J. N. Bittermann et al. OTOLARYNGOLOGY-HEAD AND NECK SURGERY
- COL1A1 association and otosclerosis: A meta-analysis
- (2012) Isabelle Schrauwen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population
- (2011) Ayda Khalfallah et al. ANNALS OF HUMAN GENETICS
- CD109-mediated degradation of TGF-β receptors and inhibition of TGF-β responses involve regulation of SMAD7 and Smurf2 localization and function
- (2011) Albane A. Bizet et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
- (2011) Ingrid M B H van de Laar et al. JOURNAL OF MEDICAL GENETICS
- GWAMA: software for genome-wide association meta-analysis
- (2010) Reedik Mägi et al. BMC BIOINFORMATICS
- Differences in gene expression between the otic capsule and other bones
- (2010) Konstantina M. Stankovic et al. HEARING RESEARCH
- A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis
- (2009) Isabelle Schrauwen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Detection of Rare Nonsynonymous Variants inTGFB1in Otosclerosis Patients
- (2009) M. Thys et al. ANNALS OF HUMAN GENETICS
- Type IV collagens regulate BMP signalling in Drosophila
- (2008) Xiaomeng Wang et al. NATURE
- BMP type I receptor inhibition reduces heterotopic ossification
- (2008) Paul B Yu et al. NATURE MEDICINE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now