Articles

Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function

Primary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time...

Authors: Sandra Habbig and Max Christoph Liebau

Submicroscopic copy-number variations associated with 46,XY disorders of sex development

Mutations in known causative genes and cytogenetically detectable chromosomal rearrangements account for a fraction of cases with 46,XY disorders of sex development (DSD). Recent advances in molecular cytogene...

Authors: Masafumi Kon and Maki Fukami

Metabolic origins of childhood asthma

Childhood obesity and incidence of asthma are increasing globally. The parallel increase of the two suggests that obesity and asthma may be related and that abnormalities in the lipid and/or glucose metabolism...

Authors: Hartmut Grasemann

Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium

Sodium channels predominantly expressed in brain are expressed in myocardial tissue and play an important role in cardiac physiology. Alterations of sodium channels are known to result in neurological disease ...

Authors: Ulrich Krause, Christian Alflen, Michael Steinmetz, Matthias J Müller, Thomas Quentin and Thomas Paul

Propofol administration to the maternal-fetal unit improved fetal EEG and influenced cerebral apoptotic pathway in preterm lambs suffering from severe asphyxia

Term and near-term infants are at high risk of developing brain injury and life-long disability if they have suffered from severe perinatal asphyxia. We hypothesized that propofol administration to the materna...

Authors: Matthias Seehase, Ward Jennekens, Alex Zwanenburg, Peter Andriessen, Jennifer JP Collins, Elke Kuypers, Luc J Zimmermann, Johan SH Vles, Antonio WD Gavilanes and Boris W Kramer

The role of chitin, chitinases, and chitinase-like proteins in pediatric lung diseases

Chitin, after cellulose, the second most abundant biopolymer on earth, is a key component of insects, fungi, and house-dust mites. Lower life forms are endowed with chitinases to defend themselves against chit...

Authors: Ines Mack, Andreas Hector, Marlene Ballbach, Julius Kohlhäufl, Katharina J Fuchs, Alexander Weber, Marcus A Mall and Dominik Hartl

Bronchopulmonary dysplasia - an overview about pathophysiologic concepts

Neonatal chronic lung disease in the preterm infant, i.e. bronchopulmonary dysplasia (BPD) is characterized by impaired pulmonary development with its effects persisting into adulthood. Triggered in the immatu...

Authors: Sophie Niedermaier and Anne Hilgendorff

miRNA-221 is elevated in cystic fibrosis airway epithelial cells and regulates expression of ATF6

MicroRNA (miRNA) and messenger RNA (mRNA) expression differs in cystic fibrosis (CF) versus non-CF bronchial epithelium. Here, the role of miRNA in basal regulation of the transcription factor ATF6 was investi...

Authors: Irene K Oglesby, Raman Agrawal, Marcus A Mall, Noel G McElvaney and Catherine M Greene

Proteostasis in pediatric pulmonary pathology

Protein homeostasis describes the tight supervision of protein synthesis, correct protein maturation and folding, as well as the timely disposal of unwanted and damaged proteins by the ubiquitin-proteasome pat...

Authors: Silke Meiners and Korbinian Ballweg

Mechanisms of hypothermia-induced cell protection in the brain

Therapeutic hypothermia is an effective cytoprotectant and promising intervention shown to improve outcome in patients following cardiac arrest and neonatal hypoxia-ischemia. However, despite our clinical and ...

Authors: Katharina Rose Luise Schmitt, Giang Tong and Felix Berger

Matrix metalloproteinases and epileptogenesis

Matrix metalloproteinases are vital drivers of synaptic remodeling in health and disease. It is suggested that at early stages of epileptogenesis, inhibition of matrix metalloproteinases may help ameliorate ce...

Authors: Chrysanthy Ikonomidou

Fanconi anemia: young patients at high risk for squamous cell carcinoma

Fanconi anemia is one of the best studied inherited cancer-prone diseases. Greatly improved protocols for hematopoietic stem cell transplantation increasingly save the lives of these young patients. However, i...

Authors: Eunike Velleuer and Ralf Dietrich

Cancer therapy: know your enemy?

Most cancer therapies are devised for adult or even elder patients. However, when dealing with pediatric cancers, additional considerations are needed.

Authors: Mike-Andrew Westhoff, Oliver Brühl and Klaus-Michael Debatin

Are microRNAs suitable biomarkers of immunity to tuberculosis?

MicroRNAs (miRNAs) are crucial regulators of human immunity e.g. against Mycobacterium tuberculosis. Against the background of still alarming high mortality of tuberculosis effective biomarkers to improve diagnos...

Authors: Bianca Ueberberg, Malte Kohns, Ertan Mayatepek and Marc Jacobsen

Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD^−/−) mice

Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD) is the most common disorder of mitochondrial β-oxidation of long-chain fatty acids. In order to maintain glucose homeostasis, the kidney and liver a...

Authors: Sara Tucci, Antonia Krogmann, Diran Herebian and Ute Spiekerkoetter

Catheter-based ablation of supraventricular tachycardias in a paediatric population – a decade of experience at a single centre

Authors: Backhoff David, Bahrke Sophia, Kriebel Thomas, Müller Matthias, Schneider Heike, Paul Thomas and Krause Ulrich

Microevolution of Pseudomonas aeruginosa in cystic fibrosis lungs

Authors: Nina Cramer, Jens Klockgether, Colin F Davenport and Burkhard Tümmler

Evidence that Fgf10 offers therapeutic opportunities after hyperoxic lung injury in mice

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

NMDA receptor dependent anti-diabetic effects

Authors: Jan Marquard, Silke Otter, Alena Welters, Diran Herebian, Fatih Demir, Annett Schroeter, Olaf Kletke, Martin Kragl, Daniel Eberhard, Barbara Bartosinska, Masa Skelin Klemen, Andraz Stozer, Martin Köhler, Alin Stirban, Freimut Schliess, Tim Heise…

Cardiac FGF23 expression correlates with left ventricular hypertrophy in patients with chronic kidney disease

Authors: Maren Leifheit-Nestler, Robert Große Siemer, Kathrin Flasbart, Dagmar-Christiane Fischer, Michael Klintschar, Jan U Becker, Christoph Aufricht, Tomas Seeman and Dieter Haffner

A novel mutation in the PAX8 promoter region causes permanent congenital hypothyroidism in a patient with Down’s Syndrome

Authors: Pia Hermanns, Sunia Khadouma, Scott Shepherd, Mohamed Mansor, John Schulga, J Jones, M Donaldson and Joachim Pohlenz

Microbiome analysis in a pediatric cohort of inflammatory bowel disease supports the rational of fecal microbiome therapy

Authors: Aysefa Doganci, Rebecca L Knoll, Claudius U Meyer, Ulrike Kullmer, Fred Zepp and Stephan Gehring

Overcoming apoptosis resistance in high risk acute lymphoblastic leukemia by SMAC mimetics in a preclinical ALL xenograft model in vivo

Authors: Melanie Schirmer, Manon Queudeville, Luca Trentin, Sarah Mirjam Eckhoff, Lüder Hinrich Meyer and Klaus-Michael Debatin

Characterization of leukemia-specific NK cell subsets against acute lymphoblastic leukemia in children

Authors: Florian Babor, Angela Manser, Kathrin Schönberg, Jürgen Enczmann, Arndt Borkhardt, Roland Meisel and Markus Uhrberg

Characterization of oncogenes on chromosome 21 identified by shRNA-based viability screening

Authors: Lena Stachorski, Veera Raghavan Thangapandi, Dirk Reinhardt and Jan-Henning Klusmann

Characterization and identification of leukemia initiating cells in pediatric acute lymphoblastic leukemia

Authors: Luca Trentin, Manon Queudeville, Sarah Mirjam Eckhoff, Nabiul Hasan, Klaus-Michael Debatin and Lueder Hinrich Meyer

The accumulation of multifunctional T cells in hypertrophied adenoids is dependent on age and related to clinical manifestation

Authors: J Knolle, K Hebel, C Arens, C Hahne, G Jorch and M Brunner-Weinzierl

Stat3 and Stat5 govern IL-10 expression in T cells through trans-activation and epigenetic remodelling in health and disease

Authors: CM Hedrich, T Rauen, JC Crispin and GC Tsokos

Molecular dissection of human B-cell tolerance – insights from patients with rare genetic diseases

Authors: Henner Morbach, Greta Meyers, Yen-Shing Ng, Jean-Nicolas Schickel, Laurence Menard, Sergei Rudchenko, Jessica L Rojas, Charlotte Cunningham-Rundles, Mary Ellen Conley, Ismail Reisli, Jose Luis Franco and Eric Meffre

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders

Authors: Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Peter Frommolt, Peter Nürnberg, Knut Brockmann and Jutta Gärtner

Granulocytic myeloid-derived suppressor cells expand in cord blood and human pregnancy and modulate T cell responses

Authors: Natascha Köstlin, Hellen Kugel, Nikolaus Rieber, Bärbel Spring, Alexander Marmé, Christian F Poets and Christian Gille

Uncovering common pathogenic transcriptional dysregulations in Silver-Russell syndrome

Authors: Florian Bohne, Ursula Martiné, Matthias Begemann, Thomas Eggermann, Thorsten Enklaar and Dirk Prawitt

A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse

Authors: Johanna Hammersen, Jin Hou, Stephanie Wünsche, Sven Brenner, Thomas Winkler and Holm Schneider

Connexin 37 and Connexin 43 genotypes in correlation to cytokines in induced sputum and blood in cystic fibrosis (CF)

Authors: M Ludwig, O Eickmeier, C Smaczny, F Schreiner, W Dubois, D NGampolo, R Schubert, S Zielen, R Ganschow and S Schmitt-Grohé

Personalized medicine in patients with Osteogenesis imperfecta

Authors: Oliver Semler, Heike Hoyer-Kuhn, Joerg Doetsch and Eckhard Schoenau

MIRIS – an adequate method to measure fortified breast milk?

Authors: Alexandra Kreissl, Valentina Zwiauer, Andreas Repa, Christoph Binder, Margarita Thanhaeuser, Angelika Berger and Nadja Haiden

Hepatitis B virus suppression through pEPI vectors and expression of small non-coding RNA molecules

Authors: Kai Hensel, Andreas Klein, Lisa Willuhn, Susanna Prax, Andreas Jenke, Stefan Wirth and Jan Postberg

Neuroprotective effects of hypothermia and levetiracetam after hypoxia-ischemia in the neonatal mouse brain

Authors: Katja Straßer, Daniela Brait, Laura Lückemann, Barbara Simone Reinboth, Josephine Herz, Ivo Bendix and Ursula Felderhoff-Müser

Development of the cerebellar white matter is impaired by postnatal hyperoxia and protected by minocycline

Authors: Thomas Schmitz, Till Scheuer and Christoph Bührer

Fetal growth pattern is regulated sex-specific dependent on maternal BMI

Authors: B Brune, D Naehter and T Brune

Simulation-based neonatal resuscitation training of medical students: is Peyton’s 4-stage approach more effective than traditional 2-stage technique?

Authors: Erol Tutdibi, Ludwig Gortner, Thomas Volk and Erik Reus

Genetic risk factors for respiratory diseases of preterm infants

Authors: Friederike Pagel, Sarah Leick, Michael Preuß, Christoph Härtel, Egbert Herting and Wolfgang Göpel

Fetal response to placental dysfunction leads to 5-hmeC and H2A.Z/H3 acetylation in NOS3 while short-termed mRNA boost entails deferred self-attenuation

Authors: Andreas Jenke, M Kanders, S Forcob, R Willems, S Wirth and J Postberg

Propofol administration to the fetal-maternal unit preserved cardiac function in late-preterm lambs subjected to severe prenatal asphyxia and cardiac arrest

Authors: Matthias Seehase, Patrick Houthuizen, Reint K Jellema, Jennifer JP Collins, Otto Bekers and Boris W Kramer

Molecular and Cellular Pediatrics

No abstract.

Authors: Klaus-Michael Debatin

Monogenic forms of childhood obesity due to mutations in the leptin gene

Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight disti...

Authors: Jan-Bernd Funcke, Julia von Schnurbein, Belinda Lennerz, Georgia Lahr, Klaus-Michael Debatin, Pamela Fischer-Posovszky and Martin Wabitsch

Perinatal programming - myths, fact, and future of research

Perinatal programming, i.e., the (epigenetic) modification of (genetic) functions throughout lifetime, suffers from the notion of premature theories and difficult and extensive research strategies.

Authors: Jörg Dötsch

The quest for fragile X biomarkers

Fragile X is the most common form of inherited intellectual disability and the leading known genetic cause of autism. There is currently no cure or approved medication for fragile X although various drugs targ...

Authors: Cara J Westmark