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| 1 | 12q24 locus association with type 1 diabetes:SH2B3 or ATXN2?显示文摘Genetic linkage analyses, genome-wide association studies of single nucleotide polymorphisms, copy number variation surveys, and mutation screenings found the human chromosomal 12q24 locus, with the genes SH2B3 and ATXN2 in its core, to be associated with an exceptionally wide spectrum of disease susceptibilities. Hematopoietic traits of red and white blood cells(like erythrocytosis and myeloproliferative disease), autoimmune disorders(like type 1 diabetes, coeliac disease, juvenile idiopathic arthritis, rheumatoid arthritis, thrombotic antiphospholipid syndrome, lupus erythematosus, multiple sclerosis, hypothyroidism and vitiligo), also vascular pathology(like kidney glomerular filtration rate deficits, serum urate levels, plasma beta-2-microglobulin levels, retinal microcirculation problems, diastolic and systolic blood pressure and hypertension, cardiovascular infarction), furthermore obesity, neurodegenerative conditions(like the polyglutamine-expansion disorder spinocerebellar ataxia type 2, Parkinson's disease, the motor-neuron disease amyotrophic lateral sclerosis, and progressive supranuclear palsy), andfinally longevity were reported. Now it is important to clarify, in which ways the loss or gain of function of the locally encoded proteins SH2B3/LNK and ataxin-2, respectively, contribute to these polygenic health problems. SH2B3/LNK is known to repress the JAK2/ABL1 dependent proliferation of white blood cells. Its null mutations in human and mouse are triggers of autoimmune traits and leukemia(acute lymphoblastic leukemia or chronic myeloid leukemia-like), while missense mutations were found in erythrocytosis-1 patients. Ataxin-2 is known to act on RNA-processing and trophic receptor internalization. While its polyglutamine-expansion mediated gain-of-function causes neuronal atrophy in human and mouse, its deletion leads to obesity and insulin resistance in mice. Thus, it is conceivable that the polygenic pathogenesis of type 1 diabetes is enhanced by an SH2B3-dysregulation-mediated predisposition to autoimmune diseases that conspires with an ATXN2-deficiency-mediated predisposition to lipid and glucose metabolism pathology. | Georg Auburger Suzana Gispert Suna Lahut Ozgür Omür Ewa Damrath Melanie Heck Nazlι Basak | 2014 | World Journal of Diabetes2014，5，3： | 2 |
| 2 | Studies on jutereinforced composites,its limitations,and some solutions through chemical modifications of fibers显示文摘 | MITRA B C BASAK R K SARKAR M | 1998 | Journal of Applied Polymer Science1998，67，6： | 1 |
| 3 | Consolidation of Clays for Variable Permeability and Compressibility显示文摘 | LEKHA K R KRISHNASWAMY N R BASAK P | 2003 | Journal of Geotechnical and Geoenvironmental Engineering2003，129，11： | 1 |
| 4 | Effect of herbicides on decomposition of soil organic matter and mineralization of nitrogen in fluventic ustochrept soil显示文摘 | JANA T K DEBNATH N C BASAK R K | 2004 | Journal of Interacademicia2004，8，2： | 1 |
| 5 | Quantitative structure-activity relationship modeling of mosquito repellents using calculated descriptors 显示文摘 | NATATAJAN R BASAK S C MILLS D | 2008 | Croatica Chemica Acta2008，81，2： | 1 |
| 6 | ffects of hexose starvation and the role of sialic acid in in?uenza virus release 显示文摘 | Griffin J A Basak S Compans R W | 1983 | Virology1983，125，2： | 1 |
| 7 | Unsupervised feature evaluation: A neuro-fuzzy approach 显示文摘 | Pal S K De R K Basak J | 2000 | IEEE Transactions on Neural Networks2000，11，2： | 1 |
| 8 | Steroids modulate the expression of a4 integrin in mouse blastocysts and uterus during implantation显示文摘 | Basak S Dhar R Das C | 2002 | Biol Reprod2002，66，6： | 1 |
| 9 | Behaviour of Li isotopes during continental weathering:the Bidar laterite profile,India显示文摘 | Basak K1sakürek Widdowson M James R H | 2004 | Chemical Geology2004，212，： | 1 |
| 10 | Microwave-assisted Michael reactions of 3-(2-nitrovinyl)indole with indoles on TLC grade silica gel~ a new, facile synthesis of 2,2-bis(3- indolyl)nitroethanes显示文摘 | Chakrabarty M Basak R Ghosh N | 2001 | Tetrahedron Letters2001，42，： | 1 |
| 11 | Neuro-fuzzy feature evaluation with theoretical analysis 显示文摘 | De R K Basak J Pal S K | 1999 | Neural Networks1999，12，10： | 1 |
| 12 | Fabrication and characterizations of biodegradable jute reinforced soy basedgreen composites 显示文摘 | Behera A K Avancha S Basak R K | 2012 | Carbohydrate Polymers2012，88，： | 1 |
| 13 | A so- journ in the synthesis and bioactivity of diindolylalkanes 显示文摘 | CHAKRABARTY M BASAK R HARIGAYA Y | 2001 | neterocycles2001，55，12： | 1 |
| 14 | Effect of thermal annealing treatment on structural, electrical and optical properties of transparent sol-gel ZnO thin films 显示文摘 | Ghosh R Paul G K Basak D | 2005 | Mater Res Bull2005，40，11： | 1 |
| 15 | Studies of the Optoelectronic Properties of ZnO Thin Films 显示文摘 | Ghosh R Fujihara S Basak D | 2006 | Journal of Electronic Materials2006，35，： | 1 |
| 16 | Studies on Jute-Reinforced Composites, Its Limitations, and Some Solutions Through Chemical Modification of ibers显示文摘 | C Mitra R K Basak | 1998 | J Appl Polym Sci1998，67，： | 1 |
| 17 | Inhibition of diethylnitrosamine-induced rat liver chromosomal aberrations and DNA-strand breaks by synergistic supplementation of vanadiurn and 1, 25-dihydroxyvitamin D3显示文摘 | Basak R Saha BK Chatterjee M | 2000 | Biochem Biophys Acta2000，150，： | 1 |
| 18 | Stability in distribution for a class of singular diffusion显示文摘 | BASAK G K BHATTACHARYA R N | 1992 | Ann Probab1992，20，： | 1 |
| 19 | Analytical solutions of sand drain problem显示文摘 | BASAK P MADHAV M R | 1978 | Journal of Geotechnical engineering ASCE1978，104，： | 1 |
| 20 | Consolidation of clays for variable permeability and compressibility显示文摘 | LEKHA K R KRISHNASWAMY N R BASAK P | 2003 | Journal of Geotechnical and Geoenvironmental Engineering ASCE2003，129，11： | 1 |
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