FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1489355663> ?p ?o ?g. }

• W1489355663 abstract "Hereditary lung diseases can affect the airways (asthma, COPD, cystic fibrosis and primary ciliary dyskinesia), parenchyma (pulmonary fibrosis, Birt Hogg Dube syndrome and tuberous sclerosis) and vasculature (hereditary heamorrhagic telangiectasia) of the lung. Such conditions include simple monogenic disorders such as Kartagener syndrome and α1-antitrypsin, wherein mutations of critical genes are sufficient to induce well-defined disease phenotypes. However, many are complex genetic traits in which inheritance subtly affects pathogenesis, for example asthma and idiopathic pulmonary fibrosis. A greater understanding of the genetic basis of pulmonary conditions has provided new insights into their underlying pathophysiology and helped in some cases to shed light on more common sporadic forms. Importantly, the identification of causative genes has also enabled prenatal diagnosis and genetic counselling to be introduced for many diseases.Key Concepts: Common diseases frequently have a genetic component, which with the advent of genome-wide association studies can now be elucidated.The study of rare monogenic disorders can provide important mechanistic clues to the pathogensis of more common sporadic disease.Pulmonary manifestations can be the presenting feature of several important inherited diseases.Keywords:fibrosing alveolitis;bronchiectasis;primary ciliary dyskinesia;hyaline membrane disease;serpinopathies;pneumothorax;Birt–Hogg–Dube syndrome;tuberous sclerosis;hereditary haemorrhagic telangiectasia;Marfan syndrome" @default.
• W1489355663 created "2016-06-24" @default.
• W1489355663 creator A5024911132 @default.
• W1489355663 creator A5036734448 @default.
• W1489355663 date "2010-09-15" @default.
• W1489355663 modified "2023-09-25" @default.
• W1489355663 title "Pulmonary Disorders: Hereditary" @default.
• W1489355663 cites W1866342749 @default.
• W1489355663 cites W1963487888 @default.
• W1489355663 cites W1970736297 @default.
• W1489355663 cites W1972494520 @default.
• W1489355663 cites W1981032421 @default.
• W1489355663 cites W1984506440 @default.
• W1489355663 cites W1985135790 @default.
• W1489355663 cites W1987959828 @default.
• W1489355663 cites W1998682046 @default.
• W1489355663 cites W2005028693 @default.
• W1489355663 cites W2006720016 @default.
• W1489355663 cites W2008599922 @default.
• W1489355663 cites W2011697505 @default.
• W1489355663 cites W2019094071 @default.
• W1489355663 cites W2020236767 @default.
• W1489355663 cites W2020863153 @default.
• W1489355663 cites W2022192316 @default.
• W1489355663 cites W2027716666 @default.
• W1489355663 cites W2032848771 @default.
• W1489355663 cites W2037443445 @default.
• W1489355663 cites W2047214755 @default.
• W1489355663 cites W2054248890 @default.
• W1489355663 cites W2056347820 @default.
• W1489355663 cites W2066777346 @default.
• W1489355663 cites W2083120544 @default.
• W1489355663 cites W2087783778 @default.
• W1489355663 cites W2100950730 @default.
• W1489355663 cites W2110091913 @default.
• W1489355663 cites W2112662842 @default.
• W1489355663 cites W2113186534 @default.
• W1489355663 cites W2115176808 @default.
• W1489355663 cites W2115714868 @default.
• W1489355663 cites W2117015911 @default.
• W1489355663 cites W2117079188 @default.
• W1489355663 cites W2117257160 @default.
• W1489355663 cites W2118518545 @default.
• W1489355663 cites W2122078978 @default.
• W1489355663 cites W2123393840 @default.
• W1489355663 cites W2125875820 @default.
• W1489355663 cites W2130894454 @default.
• W1489355663 cites W2138796152 @default.
• W1489355663 cites W2147238277 @default.
• W1489355663 cites W2150459172 @default.
• W1489355663 cites W2157693596 @default.
• W1489355663 cites W2159477646 @default.
• W1489355663 cites W2162721157 @default.
• W1489355663 cites W2315096416 @default.
• W1489355663 cites W4249429130 @default.
• W1489355663 doi "https://doi.org/10.1002/9780470015902.a0005517.pub2" @default.
• W1489355663 hasPublicationYear "2010" @default.
• W1489355663 type Work @default.
• W1489355663 sameAs 1489355663 @default.
• W1489355663 citedByCount "0" @default.
• W1489355663 crossrefType "reference-entry" @default.
• W1489355663 hasAuthorship W1489355663A5024911132 @default.
• W1489355663 hasAuthorship W1489355663A5036734448 @default.
• W1489355663 hasConcept C126322002 @default.
• W1489355663 hasConcept C142724271 @default.
• W1489355663 hasConcept C2776938444 @default.
• W1489355663 hasConcept C2777714996 @default.
• W1489355663 hasConcept C2778206077 @default.
• W1489355663 hasConcept C2778980267 @default.
• W1489355663 hasConcept C2779134260 @default.
• W1489355663 hasConcept C2779379686 @default.
• W1489355663 hasConcept C2780559512 @default.
• W1489355663 hasConcept C2780561598 @default.
• W1489355663 hasConcept C2781244666 @default.
• W1489355663 hasConcept C71924100 @default.
• W1489355663 hasConceptScore W1489355663C126322002 @default.
• W1489355663 hasConceptScore W1489355663C142724271 @default.
• W1489355663 hasConceptScore W1489355663C2776938444 @default.
• W1489355663 hasConceptScore W1489355663C2777714996 @default.
• W1489355663 hasConceptScore W1489355663C2778206077 @default.
• W1489355663 hasConceptScore W1489355663C2778980267 @default.
• W1489355663 hasConceptScore W1489355663C2779134260 @default.
• W1489355663 hasConceptScore W1489355663C2779379686 @default.
• W1489355663 hasConceptScore W1489355663C2780559512 @default.
• W1489355663 hasConceptScore W1489355663C2780561598 @default.
• W1489355663 hasConceptScore W1489355663C2781244666 @default.
• W1489355663 hasConceptScore W1489355663C71924100 @default.
• W1489355663 hasLocation W14893556631 @default.
• W1489355663 hasOpenAccess W1489355663 @default.
• W1489355663 hasPrimaryLocation W14893556631 @default.
• W1489355663 hasRelatedWork W119149678 @default.
• W1489355663 hasRelatedWork W1535025565 @default.
• W1489355663 hasRelatedWork W1767645170 @default.
• W1489355663 hasRelatedWork W2015315262 @default.
• W1489355663 hasRelatedWork W2051587856 @default.
• W1489355663 hasRelatedWork W2099474566 @default.
• W1489355663 hasRelatedWork W2120493665 @default.
• W1489355663 hasRelatedWork W2189394153 @default.
• W1489355663 hasRelatedWork W2198565348 @default.
• W1489355663 hasRelatedWork W2274447602 @default.

• next