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	题名	作者	年代	出处	被引量
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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	Tribological behavior of Cl^- implanted TiN coatings for biomedical applications 显示文摘	Gispert M P Serro A P Colaco R	2007	Wear2007，262，：	1
10	Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by Parkin显示文摘	Exner N Treske B Paquet D Holmstrm K Schiesling C Gispert S Carballo-Carbajal I Berg D Hoepken HH Gasser T Krüger R Winklhofer KF Vogel F Reichert AS Auburger G Kahle PJ Schmid B Haass C	2007	J Neurosci2007，27，12：	1
11	Efficacy of ebastine, cetirizine, and loratadine in histamine cutaneous challenges显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
12	Efficacy of ebastine,cetirizine,and loratadine in histamine cutaneous challenges显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
13	Efficacy of ebastine,cetirizine, and loratadine in histamine cutaneous challenges 显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
14	Efficacy of ebastine, cetiffzine, and loratadine in histamine cutaneous challenges 显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
15	The effect of roughness on the tribological behavior of the prosthetic pair UHMWPE/TiN-coated stainless steel 显示文摘	Gispert MP Serro AP Colaco R	2008	J Biomed Mater Res B Appl Biomater2008，84，1：	1
16	Efficacy of ebastine,cetirizine, and loratadine in histamine cutaneous challenges显示文摘	Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
17	Efficacy of ebastine, cetirizine, and lora- tadine in histamline cutaneous challenges 显示文摘	Gispert J Antonijoan R Barhanoj M el al	2002	Ann Allergy Asthma Immnol2002，89，3：	1
18	Efficacy of ebastine, cetirizine, and loratadine in histamine cutaneous challenges 显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immunol2002，89，3：	1
19	Efficacy of ebas- tine,cetirizine,andloratadine in histamine cutaneous Challenges 显示文摘	Gispert J Antonijoan R Barbanoj M	2002	Ann Allergy Asthma Immumol2002，89，3：	1
20	Fecundity and spawning mode of three introduced fish species in Lake Banyoles ( Catalunya, Spain) in comparison with other localities显示文摘	VILA - GISPERT A MORENO - AMICH R	2000	Aquat Sci2000，61，：	1

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