Genomes and Genes
Affiliation: University of Munich
- KrÃ¶ner C, Reu S, Teusch V, Schams A, Grimmelt A, Barker M, et al. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J. 2015;46:197-206 pubmed publisher..Empiric treatments had variable effects, also in patients with the same genotype. Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers. ..
- Gothe F, Kappler M, Griese M. Increasing Total Serum IgE, Allergic Bronchopulmonary Aspergillosis, and Lung Function in Cystic Fibrosis. J Allergy Clin Immunol Pract. 2017;5:1591-1598.e6 pubmed publisher..05). ?IgE obtained from the course of t-IgE levels may be helpful in diagnosing treatment requiring ABPA and predicts the effect of systemic steroid treatment on pulmonary outcome. ..
- Griese M, Kappler M, Gaggar A, Hartl D. Inhibition of airway proteases in cystic fibrosis lung disease. Eur Respir J. 2008;32:783-95 pubmed publisher..The present review summarises and discusses the pathophysiological rationales, methodological requirements and clinical implications of inhibition of airway proteases in cystic fibrosis lung disease. ..
- ..It was commissioned by the ERS and critically presents progress made as well as drawbacks. ..
- Griese M, Latzin P, Kappler M, Weckerle K, Heinzlmaier T, Bernhardt T, et al. alpha1-Antitrypsin inhalation reduces airway inflammation in cystic fibrosis patients. Eur Respir J. 2007;29:240-50 pubmed..The alpha(1)-antitrypsin deposition region may play a minor role for alpha(1)-antitrypsin inhalation in cystic fibrosis patients. ..
- Woischnik M, Sparr C, Kern S, Thurm T, Hector A, Hartl D, et al. A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling. BMC Cell Biol. 2010;11:88 pubmed publisher..In addition, we show that some of the mentioned cellular aspects behind the disease can be modulated by application of pharmaceutical drugs commonly applied in the ILD therapy. ..
- Hildebrandt J, Yalcin E, Bresser H, Cinel G, Gappa M, Haghighi A, et al. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. Orphanet J Rare Dis. 2014;9:171 pubmed publisher..Our cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, and illustrates the favorable outcome of WLL treatment in severely affected patients. ..
- Griese M, Steinecker M, Schumacher S, Braun A, Lohse P, Heinrich S. Children with absent surfactant protein D in bronchoalveolar lavage have more frequently pneumonia. Pediatr Allergy Immunol. 2008;19:639-47 pubmed publisher..In contrast, SP-D deficiency due to consumption or failure to up-regulate SP-D may be linked to pulmonary morbidity in children. ..
- Höppner S, Kinting S, Torrano A, Schindlbeck U, Bräuchle C, Zarbock R, et al. Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter. Biochim Biophys Acta Mol Cell Res. 2017;1864:2330-2335 pubmed publisher..In addition to these findings, the assay used in this work for analysing the PC-lipid transport into ABCA3 positive vesicles will be useful to screen for compounds susceptible to restore function in mutated ABCA3 protein. ..
- Griese M, Essl R, Schmidt R, Ballmann M, Paul K, Rietschel E, et al. Sequential analysis of surfactant, lung function and inflammation in cystic fibrosis patients. Respir Res. 2005;6:133 pubmed..Our findings suggest a link between loss of surfactant function driven by progressive airway inflammation and loss of small airway function in CF patients with limited lung disease. ..
- Griese M, Essl R, Schmidt R, Rietschel E, Ratjen F, Ballmann M, et al. Pulmonary surfactant, lung function, and endobronchial inflammation in cystic fibrosis. Am J Respir Crit Care Med. 2004;170:1000-5 pubmed
- Griese M, Brasch F, Aldana V, Cabrera M, Goelnitz U, Ikonen E, et al. Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet. 2010;77:119-30 pubmed publisher..Our data indicate that respiratory distress in NPC2 disease is associated with a loss of normal NPC2 protein expression in alveolar macrophages and the accumulation of functionally inactive surfactant rich in cholesterol...
- Griese M. Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective. Pediatrics. 2017;140: pubmed publisher..Other treatment options and long-term survival are related to the condition causing the proteinosis. ..
- Donaldson S, Pilewski J, Griese M, Cooke J, Viswanathan L, Tullis E, et al. Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR. Am J Respir Crit Care Med. 2017;: pubmed publisher..05 for all). These results support continued clinical development of tezacaftor 100 mg qday in combination with ivacaftor 150 mg q12h in subjects with CF. Clinical trial registration available at www.clinicaltrials.gov, ID NCT0153167. ..
- Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, et al. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res. 2005;6:80 pubmed