First person - Elin Schoultz and Ellen Johansson.

abstract：:The incidence of oesophageal adenocarcinoma has increased dramatically in the Western world over the past two decades. Owing to its dismal 5-year prognosis in advanced stages, early diagnosis is required in order to improve survival rates. Barrett's oesophagus (Barrett's) has been recognised as a pre-cancerous conditi...

journal_title：Disease models & mechanisms

authors： di Pietro M,Peters CJ,Fitzgerald RC

更新日期：2008-07-01 00:00:00

abstract：:The tumor microenvironment consists of stromal cells and extracellular factors that evolve in parallel with carcinoma cells. To gain insights into the activities of stromal cell populations, we developed and applied multicolor imaging techniques to analyze the behavior of these cells within different tumor microenviro...

journal_title：Disease models & mechanisms

authors： Egeblad M,Ewald AJ,Askautrud HA,Truitt ML,Welm BE,Bainbridge E,Peeters G,Krummel MF,Werb Z

更新日期：2008-09-01 00:00:00

abstract：:Demyelination in the central nervous system is the hallmark feature in multiple sclerosis (MS). The mechanism resulting in destabilization of myelin is a complex multi-faceted process, part of which involves deimination of myelin basic protein (MBP). Deimination, the conversion of protein-bound arginine to citrulline,...

journal_title：Disease models & mechanisms

authors： Musse AA,Li Z,Ackerley CA,Bienzle D,Lei H,Poma R,Harauz G,Moscarello MA,Mastronardi FG

更新日期：2008-11-01 00:00:00

abstract：:Real-time imaging of stromal and immune cells in tumors is an emerging field that will greatly help us to understand the role of these non-malignant tumor components in tumor progression and therapy. ...

journal_title：Disease models & mechanisms

authors： Perentes JY,Duda DG,Jain RK

更新日期：2009-03-01 00:00:00

abstract：:The essential role of connexin43 (Cx43) during oogenesis has been demonstrated by the severe germ cell deficiency and arrested folliculogenesis observed in Cx43 knockout mice. Recently, another mutant mouse strain became available (Gja1(Jrt)/+) that carries the dominant loss-of-function Cx43 mutation, Cx43(G60S). Gja1...

journal_title：Disease models & mechanisms

authors： Tong D,Colley D,Thoo R,Li TY,Plante I,Laird DW,Bai D,Kidder GM

更新日期：2009-03-01 00:00:00

abstract：:A polyglutamine expansion in the huntingtin (HTT) gene causes neurodegeneration in Huntington's disease (HD), but the in vivo function of the native protein (Htt) is largely unknown. Numerous biochemical and in vitro studies have suggested a role for Htt in neuronal development, synaptic function and axonal traffickin...

journal_title：Disease models & mechanisms

authors： Zhang S,Feany MB,Saraswati S,Littleton JT,Perrimon N

更新日期：2009-05-01 00:00:00

abstract：:The genetic lesion that is diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate for a gene whose misexpression might lead to FSHD. Because FSHD pathology ...

journal_title：Disease models & mechanisms

authors： Wuebbles RD,Hanel ML,Jones PL

更新日期：2009-05-01 00:00:00

abstract：:Injury to the lung parenchyma results in the acute respiratory distress syndrome (ARDS), which is a common and life-threatening cause of respiratory failure and mortality that develops after a variety of insults, including sepsis, multiple trauma, pneumonia, aspiration of gastric contents and severe burns. The pathoge...

journal_title：Disease models & mechanisms

authors： Bastarache JA,Blackwell TS

更新日期：2009-05-01 00:00:00

abstract：:Examination of embryonic myogenesis of two distinct, but functionally related, skeletal muscle dystrophy mutants (mdx and cav-3(-/-)) establishes for the first time that key elements of the pathology of Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy type 1C (LGMD-1c) originate in the disruption o...

journal_title：Disease models & mechanisms

authors： Merrick D,Stadler LK,Larner D,Smith J

更新日期：2009-07-01 00:00:00

abstract：:Tyrosine site-specific recombinases (SSRs) including Cre and FLP are essential tools for DNA and genome engineering. Cre has long been recognized as the best SSR for genome engineering, particularly in mice. Obtaining another SSR that is as good as Cre will be a valuable addition to the genomic toolbox. To this end, w...

journal_title：Disease models & mechanisms

authors： Anastassiadis K,Fu J,Patsch C,Hu S,Weidlich S,Duerschke K,Buchholz F,Edenhofer F,Stewart AF

更新日期：2009-09-01 00:00:00

abstract：:In recent years Canis familiaris, the domestic dog, has drawn considerable attention as a system in which to investigate the genetics of disease susceptibility, morphology and behavior. Because dogs show remarkable intrabreed homogeneity, coupled with striking interbreed heterogeneity, the dog offers unique opportunit...

journal_title：Disease models & mechanisms

authors： Shearin AL,Ostrander EA

更新日期：2010-01-01 00:00:00

abstract：:Most forms of hearing loss are associated with loss of cochlear outer hair cells (OHCs). OHCs require the tectorial membrane (TM) for stereociliary bundle stimulation (forward transduction) and active feedback (reverse transduction). Alpha tectorin is a protein constituent of the TM and the C1509G mutation in alpha te...

journal_title：Disease models & mechanisms

authors： Xia A,Gao SS,Yuan T,Osborn A,Bress A,Pfister M,Maricich SM,Pereira FA,Oghalai JS

更新日期：2010-03-01 00:00:00

abstract：:Bone injury induces an inflammatory response that involves neutrophils, macrophages and other inflammatory cells. The recruitment of inflammatory cells to sites of injury occurs in response to specific signaling pathways. The CC chemokine receptor type 2 (CCR2) is crucial for recruiting macrophages, as well as regulat...

journal_title：Disease models & mechanisms

authors： Xing Z,Lu C,Hu D,Yu YY,Wang X,Colnot C,Nakamura M,Wu Y,Miclau T,Marcucio RS

更新日期：2010-07-01 00:00:00

abstract：:Epidemiological evidence links exposure to stressful life events with increased risk for mental illness. However, there is significant individual variability in vulnerability to environmental risk factors, and genetic variation is thought to play a major role in determining who will become ill. Several studies have sh...

journal_title：Disease models & mechanisms

authors： Bartolomucci A,Carola V,Pascucci T,Puglisi-Allegra S,Cabib S,Lesch KP,Parmigiani S,Palanza P,Gross C

更新日期：2010-07-01 00:00:00

abstract：:Tumor suppressor proteins protect cells and tissues from malignant transformation. Among their diverse actions, many of these proteins interact with the microtubule cytoskeleton. This review focuses on the interactions of several tumor suppressors with microtubules and speculates on how disruption of microtubule-depen...

journal_title：Disease models & mechanisms

authors： Hernandez P,Tirnauer JS

更新日期：2010-05-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that, for approximately 80% of patients, is fatal within five years of diagnosis. To better understand ALS, animal models have been essential; however, only rodent models of ALS exhibit the major hallmarks of the disease. Here, we report t...

journal_title：Disease models & mechanisms

authors： Ramesh T,Lyon AN,Pineda RH,Wang C,Janssen PM,Canan BD,Burghes AH,Beattie CE

更新日期：2010-09-01 00:00:00

abstract：:Classic galactosemia is a potentially lethal disorder that results from profound impairment of galactose-1-phosphate uridylyltransferase (GALT). Despite decades of research, the underlying pathophysiology of classic galactosemia remains unclear, in part owing to the lack of an appropriate animal model. Here, we report...

journal_title：Disease models & mechanisms

authors： Kushner RF,Ryan EL,Sefton JM,Sanders RD,Lucioni PJ,Moberg KH,Fridovich-Keil JL

更新日期：2010-09-01 00:00:00

abstract：:The small airways of the human lung undergo pathological changes in pulmonary disorders, such as chronic obstructive pulmonary disease (COPD), asthma, bronchiolitis obliterans and cystic fibrosis. These clinical problems impose huge personal and societal healthcare burdens. The changes, termed 'pathological airway rem...

journal_title：Disease models & mechanisms

authors： Rock JR,Randell SH,Hogan BL

更新日期：2010-09-01 00:00:00

abstract：:Btn1p the yeast homolog of human CLN3, which is associated with juvenile Batten disease has been implicated in several cellular pathways. Yeast cells lacking BTN1 are unable to couple ATP hydrolysis and proton pumping activities by the vacuolar ATPase (V-ATPase). In this work, we demonstrate that changes in extracellu...

journal_title：Disease models & mechanisms

authors： Wolfe DM,Padilla-Lopez S,Vitiello SP,Pearce DA

更新日期：2011-01-01 00:00:00

abstract：:It is seldom the primary tumour that proves fatal in cancer, with metastasis the fundamental pathological process for disease progression. Upregulation of Mena, a member of the evolutionarily conserved Ena/VASP family of actin cytoskeletal regulators, promotes metastasis and invasive motility of breast cancer cells in...

journal_title：Disease models & mechanisms

authors： Tucker PK,Evans IR,Wood W

更新日期：2011-01-01 00:00:00

abstract：:SHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological and skeletal abnorm...

journal_title：Disease models & mechanisms

authors： Bauler TJ,Kamiya N,Lapinski PE,Langewisch E,Mishina Y,Wilkinson JE,Feng GS,King PD

更新日期：2011-03-01 00:00:00

abstract：:Transient expression of the transcription factor neurogenin-3 marks progenitor cells in the pancreas as they differentiate into islet cells. We developed a transgenic mouse line in which the surrogate markers secreted alkaline phosphatase (SeAP) and enhanced green florescent protein (EGFP) can be used to monitor neuro...

journal_title：Disease models & mechanisms

authors： Shimajiri Y,Kosaka Y,Scheel DW,Lynn FC,Kishimoto N,Wang J,Zhao S,German MS

更新日期：2011-03-01 00:00:00

abstract：:Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasting. DM presents in two forms, DM1 and DM2, both of which are caused by nucleo...

journal_title：Disease models & mechanisms

authors： Machuca-Tzili LE,Buxton S,Thorpe A,Timson CM,Wigmore P,Luther PK,Brook JD

更新日期：2011-05-01 00:00:00

abstract：:The hallmark of tuberculosis (TB) is the formation of granulomas, which are clusters of infected macrophages surrounded by additional macrophages, neutrophils and lymphocytes. Although it has long been thought that granulomas are beneficial for the host, there is evidence that mycobacteria also promote the formation o...

journal_title：Disease models & mechanisms

authors： Stoop EJ,Schipper T,Rosendahl Huber SK,Nezhinsky AE,Verbeek FJ,Gurcha SS,Besra GS,Vandenbroucke-Grauls CM,Bitter W,van der Sar AM

更新日期：2011-07-01 00:00:00

abstract：:Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important s...

journal_title：Disease models & mechanisms

authors： Garrido-Allepuz C,Haro E,González-Lamuño D,Martínez-Frías ML,Bertocchini F,Ros MA

更新日期：2011-05-01 00:00:00

abstract：:Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management of this disease are complex, and the molecular changes underlying sensory cell...

journal_title：Disease models & mechanisms

authors： Phillips JB,Blanco-Sanchez B,Lentz JJ,Tallafuss A,Khanobdee K,Sampath S,Jacobs ZG,Han PF,Mishra M,Titus TA,Williams DS,Keats BJ,Washbourne P,Westerfield M

更新日期：2011-11-01 00:00:00

abstract：:Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and results in a large number of phenotypes, including learning difficulties, cardiac defects, distinguishing facial features and leukaemia. These are likely to result from an increased dosage of one or more of the ∼310 genes present on Hsa21. The ...

journal_title：Disease models & mechanisms

authors： Lana-Elola E,Watson-Scales SD,Fisher EM,Tybulewicz VL

更新日期：2011-09-01 00:00:00

abstract：:The severe pediatric disorder mucolipidosis II (ML-II; also known as I-cell disease) is caused by defects in mannose 6-phosphate (Man-6-P) biosynthesis. Patients with ML-II exhibit multiple developmental defects, including skeletal, craniofacial and joint abnormalities. To date, the molecular mechanisms that underlie ...

journal_title：Disease models & mechanisms

authors： Petrey AC,Flanagan-Steet H,Johnson S,Fan X,De la Rosa M,Haskins ME,Nairn AV,Moremen KW,Steet R

更新日期：2012-03-01 00:00:00

abstract：:Preeclampsia is a pregnancy-specific disorder characterized by hypertension and excess protein excretion in the urine. It is an important cause of maternal and fetal morbidity and mortality worldwide. The disease is almost exclusive to humans and delivery of the pregnancy continues to be the only effective treatment. ...

journal_title：Disease models & mechanisms

authors： Pennington KA,Schlitt JM,Jackson DL,Schulz LC,Schust DJ

更新日期：2012-01-01 00:00:00

abstract：:Urothelial cell carcinoma (UCC) of the bladder is one of the most common malignancies worldwide, causing considerable morbidity and mortality. It is unusual among the epithelial carcinomas because tumorigenesis can occur by two distinct pathways: low-grade, recurring papillary tumours usually contain oncogenic mutatio...

journal_title：Disease models & mechanisms

authors： Ahmad I,Sansom OJ,Leung HY

更新日期：2012-05-01 00:00:00