Cara J Westmark
Cara J Westmark
Background: 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...
Stent implantation into the tracheo-bronchial system in rabbits: histopathologic sequelae in bare metal vs. drug-eluting stents [0.03%]
裸金属与药物释放型支架植入兔支气管的组织病理学后果研究
Matthias Sigler,Julia Klötzer,Thomas Quentin et al.
Matthias Sigler et al.
Background: 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...
Marianne S Muhlebach,Wei Sha
Marianne S Muhlebach
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 respiratory failure. Metabolomics al...
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function [0.03%]
纤毛病-从罕见的遗传性囊性肾病到基本细胞功能研究
Sandra Habbig,Max Christoph Liebau
Sandra Habbig
Background: 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...
Submicroscopic copy-number variations associated with 46,XY disorders of sex development [0.03%]
亚微米级拷贝数变异与46，XY性别发育障碍相关性研究
Masafumi Kon,Maki Fukami
Masafumi Kon
Background: 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...
Hartmut Grasemann
Hartmut Grasemann
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 may contribute to the pathogen...
Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium [0.03%]
SCN1A和SCN8A在大鼠心肌中的成熟特征化研究电压门控钠通道
Ulrich Krause,Christian Alflen,Michael Steinmetz et al.
Ulrich Krause et al.
Background: 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 ...
Propofol administration to the maternal-fetal unit improved fetal EEG and influenced cerebral apoptotic pathway in preterm lambs suffering from severe asphyxia [0.03%]
异丙酚改善早产羊严重窒息的胎儿脑电图并影响凋亡通路
Matthias Seehase,Ward Jennekens,Alex Zwanenburg et al.
Matthias Seehase et al.
Background: 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...
The role of chitin, chitinases, and chitinase-like proteins in pediatric lung diseases [0.03%]
儿童肺部疾病中几丁质、几丁质酶及几丁质酶样蛋白的作用
Ines Mack,Andreas Hector,Marlene Ballbach et al.
Ines Mack et al.
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 chitin-bearing pathogens. Unexpecte...
Sophie Niedermaier,Anne Hilgendorff
Sophie Niedermaier
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 immature lung by infectious complicat...