Published in Hum Mutat on April 01, 2011
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation. Am J Med Genet A (2012) 0.78
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A (2015) 0.76
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
The DNA sugar backbone 2' deoxyribose determines toll-like receptor 9 activation. Immunity (2008) 3.50
Photoreceptor layer thinning in idiopathic Parkinson's disease. Mov Disord (2014) 3.36
Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer. J Clin Oncol (2011) 3.31
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
beta-Catenin signals regulate cell growth and the balance between progenitor cell expansion and differentiation in the nervous system. Dev Biol (2003) 2.85
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol (2010) 2.82
Eculizumab for atypical hemolytic-uremic syndrome. N Engl J Med (2009) 2.80
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Schwann cell precursors from nerve innervation are a cellular origin of melanocytes in skin. Cell (2009) 2.53
Chlorophyll breakdown in senescent Arabidopsis leaves. Characterization of chlorophyll catabolites and of chlorophyll catabolic enzymes involved in the degreening reaction. Plant Physiol (2005) 2.39
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet (2005) 2.28
Neuregulin-1/ErbB signaling serves distinct functions in myelination of the peripheral and central nervous system. Neuron (2008) 2.27
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet (2008) 2.24
X-ray analysis of residual stress gradients in TiN coatings by a Laplace space approach and cross-sectional nanodiffraction: a critical comparison. J Appl Crystallogr (2013) 2.21
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet (2013) 2.10
Predictors of outcome in patients with suspected myocarditis. Circulation (2008) 2.03
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
Predictors of neonatal outcome in early-onset placental dysfunction. Obstet Gynecol (2007) 1.84
A 5-year experience with cardiopulmonary resuscitation using extracorporeal life support in non-postcardiotomy patients with cardiac arrest. Resuscitation (2012) 1.78
Activated beta-catenin induces osteoblast differentiation of C3H10T1/2 cells and participates in BMP2 mediated signal transduction. Biochem Biophys Res Commun (2003) 1.74
Extracorporeal membrane oxygenation for respiratory failure in adults. Curr Opin Crit Care (2012) 1.73
Novel lyssavirus in Natterer's bat, Germany. Emerg Infect Dis (2011) 1.71
Premature aging of the immune system in children with juvenile idiopathic arthritis. Arthritis Rheum (2008) 1.71
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Chlorophyll Catabolites - Chemical and Structural Footprints of a Fascinating Biological Phenomenon. European J Org Chem (2008) 1.62
Prediction of mortality in adult patients with severe acute lung failure receiving veno-venous extracorporeal membrane oxygenation: a prospective observational study. Crit Care (2014) 1.58
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord (2005) 1.54
Hepatitis B virus hepatotropism is mediated by specific receptor recognition in the liver and not restricted to susceptible hosts. Hepatology (2013) 1.52
The Dionaea muscipula ammonium channel DmAMT1 provides NH₄⁺ uptake associated with Venus flytrap's prey digestion. Curr Biol (2013) 1.51
Lower tidal volume strategy (≈3 ml/kg) combined with extracorporeal CO2 removal versus 'conventional' protective ventilation (6 ml/kg) in severe ARDS: the prospective randomized Xtravent-study. Intensive Care Med (2013) 1.49
Acquisition of neuronal and glial markers by neural crest-derived cells in the mouse intestine. J Comp Neurol (2003) 1.47
In vivo participation of red chlorophyll catabolite reductase in chlorophyll breakdown. Plant Cell (2007) 1.43
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet (2008) 1.43
First experience with the ultra compact mobile extracorporeal membrane oxygenation system Cardiohelp in interhospital transport. Interact Cardiovasc Thorac Surg (2011) 1.43
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet (2010) 1.42
Lbx1 acts as a selector gene in the fate determination of somatosensory and viscerosensory relay neurons in the hindbrain. J Neurosci (2007) 1.42
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol (2011) 1.41
Emerging technologies for the detection of rabies virus: challenges and hopes in the 21st century. PLoS Negl Trop Dis (2009) 1.40
Partial splenectomy: uses of error. Lancet (2002) 1.40
Sox2 and Mitf cross-regulatory interactions consolidate progenitor and melanocyte lineages in the cranial neural crest. Development (2012) 1.37
A yellow chlorophyll catabolite is a pigment of the fall colours. Photochem Photobiol Sci (2008) 1.34
Randomized, double-blind, placebo-controlled trial on symptomatic effects of coenzyme Q(10) in Parkinson disease. Arch Neurol (2007) 1.34
Fluorescent chlorophyll catabolites in bananas light up blue halos of cell death. Proc Natl Acad Sci U S A (2009) 1.32
The elimination of fox rabies from Europe: determinants of success and lessons for the future. Philos Trans R Soc Lond B Biol Sci (2013) 1.32
Double-stranded RNA induces an antiviral defense status in epidermal keratinocytes through TLR3-, PKR-, and MDA5/RIG-I-mediated differential signaling. J Immunol (2008) 1.30
Pumpless extracorporeal lung assist: a 10-year institutional experience. Ann Thorac Surg (2008) 1.29
Hydrogen- and fluorine-bridged disilyl cations and their use in catalytic C-F activation. J Am Chem Soc (2006) 1.28
Blue luminescence of ripening bananas. Angew Chem Int Ed Engl (2008) 1.28
Cytochrome P450 CYP89A9 is involved in the formation of major chlorophyll catabolites during leaf senescence in Arabidopsis. Plant Cell (2013) 1.28
Pattern recognition by Toll-like receptors. Adv Exp Med Biol (2009) 1.27
The bHLH transcription factor Olig3 marks the dorsal neuroepithelium of the hindbrain and is essential for the development of brainstem nuclei. Development (2008) 1.26
The asialoglycoprotein receptor clears glycoconjugates terminating with sialic acid alpha 2,6GalNAc. Proc Natl Acad Sci U S A (2005) 1.26
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26
Extracorporeal lung support in trauma patients with severe chest injury and acute lung failure: a 10-year institutional experience. Crit Care (2013) 1.26
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). Hum Mutat (2004) 1.22
Renewed global partnerships and redesigned roadmaps for rabies prevention and control. Vet Med Int (2011) 1.22
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum Mutat (2010) 1.20
A transcriptional network coordinately determines transmitter and peptidergic fate in the dorsal spinal cord. Dev Biol (2008) 1.19
Gene expression profiling in respiratory tissues from rats exposed to mainstream cigarette smoke. Carcinogenesis (2003) 1.18
dILA neurons in the dorsal spinal cord are the product of terminal and non-terminal asymmetric progenitor cell divisions, and require Mash1 for their development. Development (2006) 1.18
Venovenous extracorporeal membrane oxygenation for acute lung failure in adults. J Heart Lung Transplant (2011) 1.18
Sarizotan as a treatment for dyskinesias in Parkinson's disease: a double-blind placebo-controlled trial. Mov Disord (2007) 1.17
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet (2009) 1.15
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol (2012) 1.14
Desmocollin 3-mediated binding is crucial for keratinocyte cohesion and is impaired in pemphigus. J Biol Chem (2009) 1.13
Serologic evidence of West Nile virus infections in wild birds captured in Germany. Am J Trop Med Hyg (2007) 1.12
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol (2007) 1.12
How the colourless 'nonfluorescent' chlorophyll catabolites rust. Chemistry (2011) 1.11
Assessment of simple movements reflects impairment in Huntington's disease. Mov Disord (2006) 1.11
Shuttling germanium atoms into branched polysilanes. J Am Chem Soc (2009) 1.10
A cyclic disilylated stannylene: synthesis, dimerization, and adduct formation. J Am Chem Soc (2011) 1.10
Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Eur J Paediatr Neurol (2007) 1.10
MES16, a member of the methylesterase protein family, specifically demethylates fluorescent chlorophyll catabolites during chlorophyll breakdown in Arabidopsis. Plant Physiol (2011) 1.10
Assessment of complex movements reflects dysfunction in Huntington's disease. J Neurol (2003) 1.10
Bmp and Wnt/beta-catenin signals control expression of the transcription factor Olig3 and the specification of spinal cord neurons. Dev Biol (2006) 1.09
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genet (2009) 1.09
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet (2009) 1.09
A novel blue fluorescent chlorophyll catabolite accumulates in senescent leaves of the peace lily and indicates a split path of chlorophyll breakdown. FEBS Lett (2010) 1.08
The kinetics of transcriptomic changes induced by cigarette smoke in rat lungs reveals a specific program of defense, inflammation, and circadian clock gene expression. Toxicol Sci (2006) 1.08
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure. Clin J Am Soc Nephrol (2009) 1.07
Genetic characterisation of attenuated SAD rabies virus strains used for oral vaccination of wildlife. Vaccine (2008) 1.07
Dispersion energy enforced dimerization of a cyclic disilylated plumbylene. J Am Chem Soc (2012) 1.06
Alternating 2'-O-ribose methylation is a universal approach for generating non-stimulatory siRNA by acting as TLR7 antagonist. Immunobiology (2009) 1.06
First isolation of EBLV-2 in Germany. Vet Microbiol (2008) 1.05
Cardiac decompression on extracorporeal life support: a review and discussion of the literature. ASAIO J (2013) 1.05
Diseases and causes of death in European bats: dynamics in disease susceptibility and infection rates. PLoS One (2011) 1.05
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
Placebo influences on dyskinesia in Parkinson's disease. Mov Disord (2008) 1.03
Hereditary isolated ankyloblepharon filiforme adnatum. Plast Reconstr Surg (2005) 1.03
Support time-dependent outcome analysis for veno-venous extracorporeal membrane oxygenation. Eur J Cardiothorac Surg (2011) 1.03