Haploid genetic screening identifies a novel regulator of BMPR2

B. Dunmore (Cambridge, United Kingdom), S. Burr (Cambridge, United Kingdom), P. Upton (Cambridge, United Kingdom), J. Nathan (Cambridge, United Kingdom), N. Morrell (Cambridge, United Kingdom)

Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension
Session: Genetics and genomics of pulmonary arterial hypertension
Session type: Oral Presentation
Number: 4462
Disease area: Pulmonary vascular diseases

Congress or journal article abstractWebcastSlide presentationE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
B. Dunmore (Cambridge, United Kingdom), S. Burr (Cambridge, United Kingdom), P. Upton (Cambridge, United Kingdom), J. Nathan (Cambridge, United Kingdom), N. Morrell (Cambridge, United Kingdom). Haploid genetic screening identifies a novel regulator of BMPR2. 4462

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Identification and analysis of rare and novel mutations of the alpha-1-antitrypsin gene
Source: Annual Congress 2009 - What is new in molecular pathology and functional genomics of neoplastic and non-neoplastic lung disease?
Year: 2009


Identification and characterisation of seven novel SERPINA1 null mutations
Source: International Congress 2014 – Genes and environment in asthma and COPD
Year: 2014



A large-scale genome-wide association analysis of lung function in the Chinese population identifies novel loci and highlights shared genetic aetiology with obesity
Source: Eur Respir J, 58 (4) 2100199; 10.1183/13993003.00199-2021
Year: 2021



Positional cloning on 19q13 identifies UPAR as a potential asthma susceptibility gene
Source: Eur Respir J 2007; 30: Suppl. 51, 37s
Year: 2007

Identification and characterisation of twenty-two novel SERPINA1 pathological mutations
Source: Virtual Congress 2020 – Genetic and environmental influences on development of asthma and COPD
Year: 2020




Combined genome-wide transcriptomic and epigenetic profiling across disease stages identifies novel regulators of COPD in human lung fibroblasts
Source: Virtual Congress 2020 – Physiological and cellular mechanisms affecting pulmonary pathologies
Year: 2020


Identification of novel rare genetic variants associated with COPD in the general population
Source: International Congress 2018 – Multiomics studies in epidemiology: what can they tell us?
Year: 2018



An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis
Source: Eur Respir J, 50 (6) 1700426; 10.1183/13993003.00426-2017
Year: 2017



Genetic studies as a tool for identifying novel potential targets for treatment of COPD
Source: Eur Respir J, 50 (5) 1702042; 10.1183/13993003.02042-2017
Year: 2017



Meta-analysis of genome-wide association studies of single nucleotide polymorphisms in selected genes of the WNT signaling pathway
Source: Annual Congress 2012 - Asthma and the genes: from GWAS to next generation transcriptome analyses
Year: 2012



Transcriptional characterisation of human lung cells identifies novel mesenchymal lineage markers
Source: Eur Respir J, 55 (1) 1900746; 10.1183/13993003.00746-2019
Year: 2020



Investigation for candidate genes of glucocorticoid resistance by genome-wide gene expression profiling in animal model of asthma
Source: Annual Congress 2011 - New mechanisms in airway disease
Year: 2011

Gene expression profiling: identifying novel gene targets for therapeutic intervention
Source: Annual Congress 2008 - PG8 - Cellular and molecular technologies of today - treatments of tomorrow
Year: 2008



Target other gene point mutations: HER2 and rare EGFR mutations
Source: ERS Research Seminar
Year: 2015

A pooling based genome-wide analysis identifies new potential candidate genes for atopy in the echrs study
Source: Annual Congress 2009 - Asthma genetics: from genome wide to single nucleotide polymorphisms
Year: 2009

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Source: Eur Respir J, 54 (2) 1801965; 10.1183/13993003.01965-2018
Year: 2019



Candidate surrogate markers for COPD identified by differential gene expression
Source: Eur Respir J 2002; 20: Suppl. 38, 583s
Year: 2002

Description of new CFTR gene’s mutations in patients of Russia
Source: Virtual Congress 2020 – Cystic fibrosis
Year: 2020


Genetic association studies between the myd88 adaptor pathway SNPs and the development of sarcoidosis
Source: Annual Congress 2009 - Sarcoidosis in review
Year: 2009