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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 | On the Standard and Rational Completeness of Some Axiomatic Extensions of the Monoidal t-norm Based Logic显示文摘 | ESTEVA F GISPERT J GODO L | 2002 | Stud Logica2002，71，： | 1 |
| 3 | Effect of feed deprivation and lairage time on carcass and meat quality traits on pigs under minimal stressful conditions显示文摘 | Panella-Riera N Gispert M Gil M Soler J Tibau J Oliver M A Velarde A Fàbrega E | | 0，，01： | 1 |
| 4 | Carcass and meat quality characteristics of immunocastrated male, surgically castrated male, entire male and female pigs显示文摘 | Gispert M Oliver M A Velarde A | 2010 | Meat Science2010，85，5： | 1 |
| 5 | Relative influence of wildfire on soil properties and erosion processes in different Mediteranean environment in NE Spain显示文摘 | Pardini G Gispert M Dunjo G | 2004 | Science of the Total Environment2004，328，： | 1 |
| 6 | Relative influence of wildfire on soil properties and erosion processes in different Mediterranean environments in NE Spain 显示文摘 | Pardini G Gispert M Dunjo G | 2004 | Science of the Total Environment2004，328，： | 1 |
| 7 | Efficacy of ebastine, cetirizine, and lo- ratadine in histamine cutaneous challenges 显示文摘 | Gispert J Antonijoan R Barbanoj M | 2002 | Ann Allergy Asthma Immunol2002，89，3： | 1 |
| 8 | Efficacy of ebas-tine,cetirizine,and loratadine in histamline cutaneous challen-ges 显示文摘 | Gispert J Antonijoan R Barhanoj M | 2002 | Ann Allergy Asthma Immnol2002，89，3： | 1 |
| 9 | Friction and wear mechanism in hip prosthesis : comparison of joint materials be- haviour in several lubricants 显示文摘 | Gispert M P Serro A P Colaco R | 2006 | Wear2006，260，12： | 1 |
| 10 | An energy-based model for the wear of UHMWPE显示文摘 | Colaco R Gispert M P Serro A P | 2007 | Tribol Lett2007，26，2： | 1 |
| 11 | The role of landuse- land cover on runoff generation and sediment yield at a micro plot scale, in a small Mediterranean catchment显示文摘 | DUNJO G PARDINI G GISPERT M | 2004 | Journal of Arid Environments2004，57，2： | 1 |
| 12 | Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation显示文摘 | Gispert S Del Turco D Garrett L | 2003 | Mol Cell Neurosci2003，24，2： | 1 |
| 13 | Runoff erosion and nutrient depletion in five Mediterranean soils of NE Spain under different land use显示文摘 | GIOVANNI PARDINI MARIA GISPERT GEMMA DUNJO | 2003 | The Science of the Total Environment2003，30，9： | 1 |
| 14 | The role of land use-land cover on runoff generation and sediment yield at a microplot scale,in a small Mediterranean catchment显示文摘 | GEMMA DUNJO GIOVANNI PARDINI MARIA GISPERT | 2004 | Journal of Arid Environments2004，57，： | 1 |
| 15 | The impact of avoidable mortality on life expectancy at birth in Spain: changes between three periods, from 1987 to 2001显示文摘 | Gispert R Serra I Bar6s MA | 2008 | J Epidemiol Commun Health2008，62，9： | 1 |
| 16 | Efficacy of ebastine, cetifizine, and loratadine in histamine cutaneous Challenges 显示文摘 | Gispert J Antonijoan R Barbanoj M | 2002 | Ann Allergy Asthma lmmunol2002，89，3： | 1 |
| 17 | Patterns of soil organic carbon, glomalin and structural stability in abandoned Mediterranean terraced lands显示文摘 | Emran M Gispert M Pardini G | 2012 | European Journal of Soil Science2012，63，5： | 1 |
| 18 | Efficacy of ebastine,cetirizine,and loratadine inHistamine cutaneous challenges显示文摘 | Gispert J Antonijoan R Barbanoj M | 2002 | Ann Allergy Asthma Immunol2002，89，3： | 1 |
| 19 | Lactic Acidosis Complicating Mefformin and Non - Nucleoside Reverse Transcriptase Inhibitor Combination Therapy : A Smoldering Threat in the Post - HAART Era 显示文摘 | Ortiz - Brizuela E Perez - Patrigeon S Recillas - Gispert C | 2015 | Rev Invest Clin2015，67，4： | 1 |
| 20 | Adsorption of albumin on prosthetic materials:implication for tribological be- havior 显示文摘 | Serro A P Gispert M P Martins M C L | 2006 | Journal of Biomedical Materials Research : Part A2006，78，3： | 1 |
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