Titlebook: Clinical Relevance of Genetic Factors in Pulmonary Diseases; Takeshi Kaneko Book 2018 Springer Nature Singapore Pte Ltd. 2018 Smoking.Bron

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Other Diffuse Lung Diseases: Diffuse Cystic Lung Diseases (LAM, TSC, BHD), Sarcoidosis, Pulmonary Als. LAM occurs in patients with tuberous sclerosis complex (TSC-LAM) and as a sporadic form in patients who do not have tuberous sclerosis (S-LAM). Patients with TSC-LAM have germline mutations either in TSC1 located on chromosome 9q34 or TSC2 located on chromosome 16p13.3, and the majority have a ge

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Pulmonary Vascular Diseases: Pulmonary Hypertension and HHT—What Are the Roles of Genetic Factors in. HHT is often found to be the underlying cause of pulmonary arteriovenous malformations (PAVMs). Mutations in ., ., ., ., ., and . have been identified in cases of HPAH. Mutations in ., ., and . have been identified in cases of HHT. The average penetrance of . mutations is only 30% in HPAH. In cont

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Genetic Factors in Sleep Disorders: What Are the Roles of Genetic Factors in the Pathogenesis of SleOSA) is a common and complex sleep disorder and has heritability. A recent genome-wide association study (GWAS) identified some genetic risks for OSA with genome-wide levels of significance for the first time. Congenital central hypoventilation syndrome has causative mutations in the paired-like hom

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EGFR: How Important Is EGFR Mutation Status in the Management of Lung Cancer?ammed cell death. Along with the molecular biology of the cell, over the last several decades, numerous other important factors that contribute to cell growth, differentiation, and proliferation processes have been found. In contrast to normal cells, cancer cells have the capacity to proliferate wit

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ALK and Others: How Important Are ALK and Other Mutations in the Management of Lung Cancer?ular-targeted agents. Over the last decade, treatment strategies for non-small cell lung cancer (NSCLC) patients have rapidly evolved beyond conventional chemotherapy with molecular-targeted agents. Gene aberration in . (.) or . (.) has successfully being targeted, and the corresponding tyrosine kin