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Whole exome sequencing identifies new susceptibility candidates underlying community-acquired pneumonia
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作者 Jacobo Pardo-Seco Sandra Viz-Lasheras +14 位作者 Xabier Bello Alberto Gomez-Carballa alba camino-mera Sara Pischedda Maria Jose Curras-Tuala Irene Rivero-Calele Ana Dacosta-Urbieta Fernando Caamano-Vina Carmen Rodriguez-Tenreiro Sanchezz Isabel Cifuentes Cristina Mendez Chiea Chuen Khor Federico Martinon-Torres Antonio Salas on behalf of the CAPPRIC study group 《Genes & Diseases》 SCIE CSCD 2024年第6期47-51,共5页
Pneumonia is an inflammatory condition of the lung with symptoms that include productive dry cough,fever,chest pain,and difficulty breathing,and it is usually caused by viruses and bacteria,but also other microorganis... Pneumonia is an inflammatory condition of the lung with symptoms that include productive dry cough,fever,chest pain,and difficulty breathing,and it is usually caused by viruses and bacteria,but also other microorganisms(such as fungi and parasites).Community-acquired pneumonia(CAP)is a major cause of infectious diseases,hospitalization,and mortality,especially in the elderly population. 展开更多
关键词 PNEUMONIA MORTALITY LUNG
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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia
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作者 Alberto Gomez-Carballa Maria Jose Curras-Tuala +15 位作者 Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao alba camino-mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas 《Genes & Diseases》 SCIE CSCD 2024年第3期22-25,共4页
Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleot... Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches. 展开更多
关键词 stimulating driving ASI
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