Articles

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents ...

Authors: Walid Fazeli, Mert Karakaya, Peter Herkenrath, Anne Vierzig, Jörg Dötsch, Jürgen-Christoph von Kleist-Retzow and Sebahattin Cirak

Mechanism of human rhinovirus infections

About 150 human rhinovirus serotypes are responsible for more than 50 % of recurrent upper respiratory infections. Despite having similar 3D structures, some bind members of the low-density lipoprotein recepto...

Authors: Dieter Blaas and Renate Fuchs

The cross-talk between enterocytes and intraepithelial lymphocytes

The gut mucosa is continuously exposed to food and microbial antigens. Both enterocytes and intraepithelial lymphocytes have a pivotal role in maintaining the integrity of intestinal mucosa, as these cells gua...

Authors: Serena Vitale, Stefania Picascia and Carmen Gianfrani

MicroRNA in late lung development and bronchopulmonary dysplasia: the need to demonstrate causality

MicroRNA are emerging as powerful regulators of cell differentiation and tissue and organ development. Several microRNA have been described to play a role in branching morphogenesis, a key step in early lung d...

Authors: Claudio Nardiello and Rory E. Morty

Mesenchymal stromal cells in the development and therapy of bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD), the chronic lung disease of prematurity, remains a major healthcare burden. Despite great progresses in perinatal medicine over the past decades, no cure for BPD has been foun...

Authors: Marius A. Möbius and Mario Rüdiger

Alveologenesis: key cellular players and fibroblast growth factor 10 signaling

Alveologenesis is the last stage in lung development and is essential for building the gas-exchanging units called alveoli. Despite intensive lung research, the intricate crosstalk between mesenchymal and epit...

Authors: Cho-Ming Chao, Alena Moiseenko, Klaus-Peter Zimmer and Saverio Bellusci

Inhaled protein/peptide-based therapies for respiratory disease

Asthma, chronic obstructive pulmonary disease (COPD), and cystic fibrosis (CF) are all chronic pulmonary diseases, albeit with different etiologies, that are characterized by airflow limitation, chronic inflam...

Authors: Robert C. Fellner, Shawn T. Terryah and Robert Tarran

Can the preterm lung recover from perinatal stress?

After birth, adequate lung function is necessary for the successful adaptation of a preterm baby. Both prenatal and postnatal insults and therapeutic interventions have an immediate effect on lung function and...

Authors: Matthias C. Hütten, Tim G. A. M. Wolfs and Boris W. Kramer

The impact of hypoxia on intestinal epithelial cell functions: consequences for invasion by bacterial pathogens

The maintenance of oxygen homeostasis in human tissues is mediated by several cellular adaptations in response to low-oxygen stress, called hypoxia. A decrease in tissue oxygen levels is initially counteracted...

Authors: Nathalie E. Zeitouni, Sucheera Chotikatum, Maren von Köckritz-Blickwede and Hassan Y. Naim

Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis

Cystic fibrosis (CF) is a lethal monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that entails the (diagnostic) increase in sweat electrolyte concent...

Authors: Speranza Esposito, Antonella Tosco, Valeria R. Villella, Valeria Raia, Guido Kroemer and Luigi Maiuri

Update on host-pathogen interactions in cystic fibrosis lung disease

Bacterial and fungal infections are hallmarks of cystic fibrosis (CF) lung disease. In the era of long-term inhaled antibiotics and increasing CF patient survival, new “emerging” pathogens are detected in CF a...

Authors: Andreas Hector, Nina Frey and Dominik Hartl

Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome

Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosoc...

Authors: Bruno P. Chumpitazi and Robert J. Shulman

Fructose malabsorption

Incomplete intestinal absorption of fructose might lead to abdominal complaints such as pain, flatulence and diarrhoea. Whether defect fructose transporters such as GLUT5 or GLUT2 are involved in the pathogene...

Authors: Karolin Ebert and Heiko Witt

Diverse roles of endoplasmic reticulum stress sensors in bacterial infection

Bacterial infection often leads to cellular damage, primarily marked by loss of cellular integrity and cell death. However, in recent years, it is being increasingly recognized that, in individual cells, there...

Authors: Helena Pillich, Maria Loose, Klaus-Peter Zimmer and Trinad Chakraborty

Endocytosis and transcytosis of gliadin peptides

Celiac disease (CD) is a frequent inflammatory intestinal disease, with a genetic background, caused by gliadin-containing food. Some gliadin peptides are not digested by intestinal proteases and can have diff...

Authors: M. Vittoria Barone and K. Peter Zimmer

Genetics of irritable bowel syndrome

Irritable bowel syndrome (IBS) is a common condition with a complex and largely unknown etiology. There is no cure, and treatment options are mainly directed to the amelioration of symptoms. IBS causes reduced...

Authors: Maria Henström and Mauro D’Amato

Mesenchymal stem/stromal cells—a key mediator for regeneration after perinatal morbidity?

Perinatal complications in both term- and preterm-born infants are a leading cause of neonatal morbidities and mortality. Infants face different challenges in the neonatal intensive care unit with long-term mo...

Authors: Martin Mueller, Tim G. A. Wolfs, Andreina Schoeberlein, Antonio W. D. Gavilanes, Daniel Surbek and Boris W. Kramer

The clinical consequences of sucrase-isomaltase deficiency

Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express ...

Authors: Stanley A. Cohen

Milk glucosidase activity enables suckled pup starch digestion

Starch requires six enzymes for digestion to free glucose: two amylases (salivary and pancreatic) and four mucosal maltase activities; sucrase-isomaltase and maltase-glucoamylase. All are deficient in suckling...

Authors: B. L. Nichols, M. Diaz-Sotomayor, S. E. Avery, S. K. Chacko, D. L. Hadsell, S. S. Baker, B. R. Hamaker, L. K. Yan, H. M. Lin and R. Quezada-Calvillo

Towards understanding microvillus inclusion disease

Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical mic...

Authors: Georg F. Vogel, Michael W. Hess, Kristian Pfaller, Lukas A. Huber, Andreas R. Janecke and Thomas Müller

The multiple roles of sucrase-isomaltase in the intestinal physiology

Osmotic diarrhea and abdominal pain in humans are oftentimes associated with carbohydrate malabsorption in the small intestine due to loss of function of microvillar disaccharidases. Disaccharidases are crucia...

Authors: Birthe Gericke, Mahdi Amiri and Hassan Y. Naim

The role of hypoxia in intestinal inflammation

Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disease of the intestine. IBD is a multifactorial disorder, and IBD-associated genes are critical in innate immune response, inflammatory re...

Authors: Yatrik M. Shah

Expression and function of histamine and its receptors in atopic dermatitis

Atopic dermatitis constitutes a most burdensome chronic inflammatory skin disease. Standard treatment is cumbersome and often targets its main symptom, pruritus, only insufficiently.

Authors: M. Albrecht and A. M. Dittrich

Pluripotent stem cells for disease modeling and drug screening: new perspectives for treatment of cystic fibrosis?

Despite continuous improvements in treating clinical symptoms and the identification of single compounds that effectively rescue some rare mutations in the cystic fibrosis transmembrane conductance regulator (...

Authors: Ulrich Martin

Post stroke hemi-dystonia in children: a neglected area of research

Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystoni...

Authors: Daniel Tibussek, Ertan Mayatepek, Dirk Klee and Anne Koy

Airway reactivity and sphingolipids—implications for childhood asthma

Asthma is a clinically heterogeneous disorder, whose onset and progression results from a complex interplay between genetic susceptibility, allergens, and viral triggers. Sphingolipids and altered sphingolipid...

Authors: Jennie G. Ono, Tilla S. Worgall and Stefan Worgall

GM-CSF and the role of myeloid regulatory cells in the pathogenesis and treatment of Crohn’s disease

Intestinal monocytes/macrophages sustain the intestinal immune homeostasis and might be an attractive therapeutic target for the management of inflammatory bowel disease (IBD). Granulocyte macrophage colony-s...

Authors: Jan Däbritz

Modified mRNA as a new therapeutic option for pediatric respiratory diseases and hemoglobinopathies

The immunogenicity and limited stability of conventional messenger RNA (mRNA) has traditionally restricted its potential therapeutic use. In 1992, the first clinical application of mRNA was reported as a poten...

Authors: Justin S. Antony, Alexander Dewerth, Ashiqul Haque, Rupert Handgretinger and Michael S.D. Kormann

Stent implantation into the tracheo-bronchial system in rabbits: histopathologic sequelae in bare metal vs. drug-eluting stents

Stent implantation into the tracheo-bronchial system may be life-saving in selected pediatric patients with otherwise intractable stenosis of the upper airways. Following implantation, significant tissue proli...

Authors: Matthias Sigler, Julia Klötzer, Thomas Quentin, Thomas Paul and Oliver Möller

Lessons learned from metabolomics in cystic fibrosis

Cystic fibrosis is a mono-genetic multi-system disease; however, respiratory manifestations cause the main morbidity and mortality where chronic bacterial infections lead to bronchiectasis and ultimately respi...

Authors: Marianne S. Muhlebach and Wei Sha

Cilia-associated cellular function of the AAA ATPases RUVBL1 and RUVBL2

Authors: Claudia Dafinger, Markus Rinschen, Carolin Ehrenberg, Mareike Franke, Heike Göbel, Jörg Dötsch, Thomas Benzing, Bernhard Schermer and Max Christoph Liebau

Simultaneously double infection of oncolytic viruses leads to addition of cell death induction in glioblastoma cell lines

Authors: Michael Ehrhardt, Julia Frank, Sigrun Smola and Norbert Graf

A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy

Authors: Sebahattin Cirak, Haicui Wang, Raul Heredia, Francesco Muntoni, Yetrib Hathout, Peter Herkenrath, Jörg Dötsch and Peter Nürnberg

Fibrocystin in MDCK cells: impact on cell adhesion and epithelial morphogenesis

Authors: Birga Sötje, Dieter Haffner and Wolfgang H Ziegler

TMEM18 is a regulator of adipogenesis and involved in PPARG signalling in vivo

Authors: Kathrin Landgraf, Julian Schwartze, Denise Rockstroh, Wieland Kiess and Antje Körner

Neutralization of interleukin-17 produced by gamma delta T cells constrains inflammation in experimental biliary atresia

Authors: Christian Klemann, Arne Schröder, Anika Dreier, Nora Moehn, Stephanie Dippel, Thomas Winterberg, Anne Wilde, Yi Yu, Faikah Gueler, Anne Joerns, Eva Tolosa, Johannes Leonhardt, Jan D Haas, Immo Prinz, Claus Petersen and Joachim F Kuebler

Hypoxia potentiates cytotoxicity of LPS-activated microglial BV2 cells in vitro by synergistic effects on cytokine and nitric oxide secretion

Authors: Susan Jung, Daniel Frey, Florian Brackmann, Mandy Richter-Kraus and Regina Trollmann

Regulation of PACAP receptors in respiratory distress syndrome (RDS) of preterms and newborns

Authors: MJ Müller, A Kislat, A Hippe, A Poppe, S Goldmann, T Paul and S Seeliger

Is the implementation of a microbiological surveillance screening beneficial in a neonatal intensive care unit?

Authors: I Schmeh, A Welk, T Schwanz, A Diefenbach, B Jansen and E Mildenberger

Modern chronic heart failure therapy in context of pulmonary banding to avoid heart transplantation

Authors: S Recla, B Steinbrenner, T Logeswaran, L Rüblinger, D Schmidt, J Bauer, C Apitz, J Thul and D Schranz

Impact of embryonic Fgf10 expression deficiency on embryonic mouse lung development and repair following hyperoxia injury

Authors: CM Chao, D Al Alam, S Schermuly, H Ehrhardt, KP Zimmer and S Bellusci

Singleton-Merten Syndrome: a rare autoimmune disorder caused by a specific IFIH1 mutation

Authors: I Buers, Y Nitschke, RC Hennekam, M MacDougall, C Lu, O Mamaeva, GI Rice, H Erlandsen, HG Kehl, H Thiele, P Nürnberg, W Höhne, YJ Crow, A Feigenbaum and F Rutsch

Neuroprotection after infection-sensitized neonatal hypoxic-ischemic brain injury

Authors: Hemmen Sabir, Damjan Osredkar, Elke Maes, Thomas Wood and Marianne Thoresen

Integrated genomics elucidates relative spatial homogeneity of embryonal brain tumors

Authors: Marc Remke, Florence Cavalli, A Sorana Morrissy, Vijay Ramaswamy, David Jones, Roger Packer, Eric Bouffet, Gary Bader, Arndt Borkhardt, Stefan Pfister, Nada Jabado, Marco Marra and Michael D Taylor

Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders

Authors: Pia Hermanns, Małgorzata Kumorowicz-Czoch and Joachim Pohlenz

Nexilin mutations are associated with left ventricular noncompaction cardiomyopathy

Authors: E Pardun, K Wenzel, H-H Kramer, F Berger, B Gerull and S Klaassen

Differential expression of mucosal trefoil factors and mucins in pediatric inflammatory bowel diseases

Authors: Andreas C Jenke, Veronika Boland, Jan Postberg, Silvia Vogel, Daniel Gödde, Matthias Zilbauer, Robert Heuschkel, Stefan Wirth and Kai O Hensel

Functional genomic screening reveals asparagine dependence as a metabolic vulnerability in sarcoma

Authors: Simone Hettmer, Anna C Schinzel, Daria Tchessalova, Nigel Richards, William C Hahn and Amy J Wagers

A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS

Authors: Chidiebere U Awah, Silke Hedtfeld, Burkhard Tümmler and Frauke Stanke

Novel orphan medicines and abandoned pathways - the US Orphan Drug Act of 1983 and the impact on rare rheumatologic diseases and lysosomal storage disorders

Authors: Markus Ries, Thomas Lutz, Anette Lampert, William Mountford, Konstantin Mechler and Georg F Hoffmann