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Abbasi, F.; Azizi, F.; Javaheri, M.; Mosallanejad, A.; Ebrahim-Habibi, A.; Ghafouri-Fard, S. |
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Title |
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family |
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Journal Article |
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Year |
2015 |
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Abbreviated Journal |
Gene |
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Volume |
557 |
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1 |
Pages |
103-105 |
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Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.10611066del6, p.V355S356del2) is shown to be segregated with the disease in this family. |
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0378-1119 |
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UofT @ mathieu.lemaire @ |
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45434 |
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ACMG, B. of D. |
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Title |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing |
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Journal Article |
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2015 |
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Genet Med |
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17 |
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1 |
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68-69 |
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DISCLAIMER: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these recommendations. |
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1098-3600 |
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UofT @ mathieu.lemaire @ |
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45436 |
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Abraham, G.; Inouye, M. |
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Title |
Genomic risk prediction of complex human disease and its clinical application |
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Journal Article |
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2015 |
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Curr Opin Genet Dev |
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33 |
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10-16 |
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Recent advances in genome-wide association studies have stimulated interest in the genomic prediction of disease risk, potentially enabling individual-level risk estimates for early intervention and improved diagnostic procedures. Here, we review recent findings and approaches to genomic prediction model construction and performance, then contrast the potential benefits of such models in two complex human diseases, aiding diagnosis in celiac disease and prospective risk prediction for cardiovascular disease. Early indications are that optimal application of genomic risk scores will differ substantially for each disease depending on underlying genetic architecture as well as current clinical and public health practice. As costs decline, genomic profiles become common, and popular understanding of risk and its communication improves, genomic risk will become increasingly useful for the individual and the clinician. |
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0959-437x |
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UofT @ mathieu.lemaire @ |
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45437 |
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Author |
Alkuraya, F.S. |
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Title |
Human knockout research: new horizons and opportunities |
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Journal Article |
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Year |
2015 |
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Trends Genet |
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31 |
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2 |
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108-115 |
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Although numerous approaches have been pursued to understand the function of human genes, Mendelian genetics has by far provided the most compelling and medically actionable dataset. Biallelic loss-of-function (LOF) mutations are observed in the majority of autosomal recessive Mendelian disorders, representing natural human knockouts and offering a unique opportunity to study the physiological and developmental context of these genes. The restriction of such context to ‘disease’ states is artificial, however, and the recent ability to survey entire human genomes for biallelic LOF mutations has revealed a surprising landscape of knockout events in ‘healthy’ individuals, sparking interest in their role in phenotypic diversity beyond disease causation. As I discuss in this review, the potentially wide implications of human knockout research warrant increased investment and multidisciplinary collaborations to overcome existing challenges and reap its benefits. |
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0168-9525 |
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UofT @ mathieu.lemaire @ |
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45506 |
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Adebayo, D.; Morabito, V.; Davenport, A.; Jalan, R. |
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Title |
Renal dysfunction in cirrhosis is not just a vasomotor nephropathy |
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Journal Article |
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Year |
2015 |
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Abbreviated Journal |
Kidney Int |
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87 |
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3 |
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509-515 |
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The short-term mortality of cirrhotic patients who develop renal dysfunction remains unacceptably high, and as such the treatment of this condition is an unmet need. Although features of kidney injury are well recognized in these patients, the pathophysiology is complex and not completely understood. Improved understanding of the pathophysiological mechanisms involved in renal dysfunction occurring on a background of cirrhosis is key to developing effective treatment strategies to improve survival. Renal dysfunction due to hepatorenal syndrome (HRS) is characteristic of cirrhosis. Our current understanding is that HRS is functional in nature and occurs as a consequence of hemodynamic changes associated with portal hypertension. However, there is evidence in the literature suggesting that, histologically, the kidneys are not always normal in the vast majority of patients who present with renal dysfunction on the background of cirrhosis. Furthermore, there is emerging data implicating nonvasomotor mechanisms in the pathophysiology of renal dysfunction in cirrhosis. This mini-review aims to present the evidence suggesting that factors other than hemodynamic dysregulation have an important role in the development of this major complication for patients with progressive cirrhosis. |
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0085-2538 |
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UofT @ mathieu.lemaire @ |
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45609 |
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Author |
Astudillo, L.; Sabourdy, F.; Therville, N.; Bode, H.; Ségui, B.; Andrieu-Abadie, N.; Hornemann, T.; Levade, T. |
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Title |
Human genetic disorders of sphingolipid biosynthesis |
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Journal Article |
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Year |
2015 |
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Abbreviated Journal |
J Inherit Metab Dis |
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38 |
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1 |
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65-76 |
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research support, non-u.s. gov’t; lipid human disease |
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Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite good agreement with the known critical roles of sphingolipids in cells from the nervous system and the epidermis, these genetic defects clinically manifest as neurological disorders, including paraplegia, epilepsy or peripheral neuropathies, or present with ichthyosis. The present review summarizes the genetic alterations, biochemical changes and clinical symptoms of this new group of inherited metabolic disorders. Hypotheses regarding the molecular pathophysiology and potential treatments of these diseases are also discussed. |
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0141-8955 |
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UofT @ mathieu.lemaire @ |
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45621 |
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Gros, A.; Syvannarath, V.; Lamrani, L.; Ollivier, V.; Loyau, S.; Goerge, T.; Nieswandt, B.; Jandrot-Perrus, M.; Ho-Tin-Noé, B. |
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Title |
Single platelets seal neutrophil-induced vascular breaches via GPVI during immune complex-mediated inflammation in mice |
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Journal Article |
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2015 |
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Blood |
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Confocal; IVM; Microscopy; Model: Mouse; Mouse; Multiphoton; Thrombosis |
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Platelets protect vascular integrity during inflammation. Recent evidence suggests that this action is independent of thrombus formation and requires the engagement of glycoprotein VI (GPVI), but it remains unclear how platelets prevent inflammatory bleeding. We investigated whether platelets and GPVI act primarily by preventing detrimental effects of neutrophils using models of immune complex(IC)-mediated inflammation in mice immuno-depleted in platelets and/or neutrophils or deficient in GPVI. Depletion of neutrophils prevented bleeding in thrombocytopenic and GPVI-/- mice during IC-mediated dermatitis. GPVI deficiency did not modify neutrophil recruitment, which was however reduced by thrombocytopenia. Neutrophil cytotoxic activities were reduced in thrombocytopenic and GPVI-/- mice during IC-mediated inflammation. Intravital microscopy revealed that in this setting, intravascular binding sites for platelets were exposed by neutrophils, and GPVI supported the recruitment of individual platelets to these spots. Furthermore, the platelet secretory response accompanying IC-mediated inflammation was partly mediated by GPVI and blocking of GPVI signalling impaired the vasculoprotective action of platelets. Together, our results show that GPVI plays a dual role in inflammation by enhancing neutrophil damaging activities while supporting the activation and hemostatic adhesion of single platelets to neutrophil-induced vascular breaches. |
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UofT @ mathieu.lemaire @ |
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45622 |
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Author |
Alsady, M.; Baumgarten, R.; Deen, P.M.; de Groot, T. |
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Title |
Lithium in the Kidney: Friend and Foe |
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Journal Article |
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2015 |
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J Am Soc Nephrol |
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Nephrology |
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Trace amounts of lithium are essential for our physical and mental health, and administration of lithium has improved the quality of life of millions of patients with bipolar disorder for >60 years. However, in a substantial number of patients with bipolar disorder, long-term lithium therapy comes at the cost of severe renal side effects, including nephrogenic diabetes insipidus and rarely, ESRD. Although the mechanisms underlying the lithium-induced renal pathologies are becoming clearer, several recent animal studies revealed that short-term administration of lower amounts of lithium prevents different forms of experimental AKI. In this review, we discuss the knowledge of the pathologic and therapeutic effects of lithium in the kidney. Furthermore, we discuss the underlying mechanisms of these seemingly paradoxical effects of lithium, in which fine-tuned regulation of glycogen synthase kinase type 3, a prime target for lithium, seems to be key. The new discoveries regarding the protective effect of lithium against AKI in rodents call for follow-up studies in humans and suggest that long-term therapy with low lithium concentrations could be beneficial in CKD. |
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1046-6673 |
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UofT @ mathieu.lemaire @ |
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45624 |
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Author |
Andersson, R.; Sandelin, A.; Danko, C.G. |
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Title |
A unified architecture of transcriptional regulatory elements |
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Journal Article |
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Year |
2015 |
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Abbreviated Journal |
Trends Genet |
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Volume |
31 |
Issue |
8 |
Pages |
426-433 |
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Abstract |
Gene expression is precisely controlled in time and space through the integration of signals that act at gene promoters and gene-distal enhancers. Classically, promoters and enhancers are considered separate classes of regulatory elements, often distinguished by histone modifications. However, recent studies have revealed broad similarities between enhancers and promoters, blurring the distinction: active enhancers often initiate transcription, and some gene promoters have the potential to enhance transcriptional output of other promoters. Here, we propose a model in which promoters and enhancers are considered a single class of functional element, with a unified architecture for transcription initiation. The context of interacting regulatory elements and the surrounding sequences determine local transcriptional output as well as the enhancer and promoter activities of individual elements. |
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0168-9525 |
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UofT @ mathieu.lemaire @ |
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45626 |
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Author |
Aoki-Kinoshita, K.F. |
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Title |
Glycoinformatics: Overview |
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Book Chapter |
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2015 |
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Glycoinformatics: Overview |
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Volume |
Glycoscience: Biology and Medicine |
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185-192 |
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Because of the many different glycan-related databases now publicly available, a number of different glycan structure representations are used to graphically and textually display glycans structures. This overview provides an easy reference to each representation format as well as links to several major databases and web resources that may be useful for glycobiologists. Many of the major databases, glycan sequence and structure representation formats, and tools that are currently available and used in the glycoscience field will be … |
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Springer |
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Tokyo |
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Endo, T.; Seeberger, P.H.; Hart, G.W.; Wong, C.-H.; Taniguchi, N. |
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978-4-431-54836-2 |
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UofT @ mathieu.lemaire @ |
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45629 |
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