| Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. | Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Zhang Y, Morris R, Brown GJ, Lorenzo AMD, Meng X, Kershaw NJ, Kiridena P, Burgio G, Gross S, Cappello JY, Shen Q, Wang H, Turnbull C, Lea-Henry T, Stanley M, Yu Z, Ballard FD, Chuah A, Lee JC, Hatch AM, Enders A, Masters SL, Headley AP, Trnka P, Mallon D, Fletcher JT, Walters GD, Šestan M, Jelušić M, Cook MC, Athanasopoulos V, Fulcher DA, Babon JJ, Vinuesa CG, Ellyard JI., | 03/1/2024 |
| Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations. | Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations.
Lundin-Ström KB, Biloglav A, Castor A, Olsson-Arvidsson L, Johansson B. | 04/21/2023 |
| CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients. | CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients.
Vandewalle J, Desouter AK, Van der Auwera BJ, Tenoutasse S, Gillard P, De Block C, Keymeulen B, Gorus FK, Van de Casteele M, Belgian Diabetes Registry., Free PMC Article | 03/29/2023 |
| The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis. | The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.
Allenspach EJ, Shubin NJ, Cerosaletti K, Mikacenic C, Gorman JA, MacQuivey MA, Rosen ABI, Timms AE, Wray-Dutra MN, Niino K, Liggitt D, Wurfel MM, Buckner JH, Piliponsky AM, Rawlings DJ., Free PMC Article | 01/15/2022 |
| LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway. | LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway.
Tan M, Cheng Y, Zhong X, Yang D, Jiang S, Ye Y, Ding M, Guan G, Yang D, Zhao X., Free PMC Article | 08/21/2021 |
| The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects. | The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects.
Kuo CL, Joaquim M, Kuchel GA, Ferrucci L, Harries LW, Pilling LC, Melzer D., Free PMC Article | 02/13/2021 |
| Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures. | Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures.
Cielo D, Galatola M, Fernandez-Jimenez N, De Leo L, Garcia-Etxebarria K, Loganes C, Tommasini A, Not T, Auricchio R, Greco L, Bilbao JR., Free PMC Article | 10/24/2020 |
| Phosphorylation-related SNPs influence lipid levels and rheumatoid arthritis risk by altering gene expression and plasma protein levels. | Phosphorylation-related SNPs influence lipid levels and rheumatoid arthritis risk by altering gene expression and plasma protein levels.
Mo X, Guo Y, Qian Q, Fu M, Zhang H. | 08/22/2020 |
| The requirement of PI3K-Akt activation for the cardioprotective effect of Lnk was confirmed. | The lymphocyte adapter protein: A negative regulator of myocardial ischemia/reperfusion injury.
Huang J, Sun Y, Chen L, Ma G. | 06/27/2020 |
| LNK as an adaptor protein had low expression in colorectal cancer. | LNK protein: Low expression in human colorectal carcinoma and relationship with tumor invasion.
Pan J, Peng R, Cheng N, Chen F, Gao B. | 06/6/2020 |
| Germline SH2B3 pathogenic variant associated with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis. | Germline SH2B3 pathogenic variant associated with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.
Coltro G, Lasho TL, Finke CM, Gangat N, Pardanani A, Tefferi A, Jevremovic D, Altman JK, Patnaik MM. | 03/14/2020 |
| Study identified a role for LNK (SH2B3) in the pathology of aortic dissection in experimental animals and humans and described a new model that can be used to inform both inherited and acquired forms of this disease. | LNK deficiency promotes acute aortic dissection and rupture.
Laroumanie F, Korneva A, Bersi MR, Alexander MR, Xiao L, Zhong X, Van Beusecum JP, Chen Y, Saleh MA, McMaster WG, Gavulic KA, Dale BL, Zhao S, Guo Y, Shyr Y, Perrien DS, Cox NJ, Curci JA, Humphrey JD, Madhur MS., Free PMC Article | 01/11/2020 |
| Study in Russian patients confirmed that the minor 'T' allele of LNK polymorphism determines fertile ground for the development of JAK2V617F positive myeloproliferative neoplasms. However, no association of the 'C' allele of this LNK gene with chronic myeloid leukemia was found and authors do not see any clear reasons for such an association, except for the ethnic features of the LNK (rs3184504) polymorphism. | T784C LNK gene polymorphism and the risk of myeloproliferative disorders.
Olkhovskiy IA, Gorbenko AS, Stolyar MA, Vasiliev EV, Mikhalev MA, Tabakova KA. | 01/4/2020 |
| the SH2B3-beta2M axis plays a causal role in hypertension. | Evidence for a Causal Role of the SH2B3-β(2)M Axis in Blood Pressure Regulation.
Keefe JA, Hwang SJ, Huan T, Mendelson M, Yao C, Courchesne P, Saleh MA, Madhur MS, Levy D., Free PMC Article | 11/23/2019 |
| Decreased risk of sensitization to food allergens was associated with higher H3 acetylation levels in placentas at the IFNG and SH2B3 genes, and for H4 acetylation in HDAC4. Higher HDAC4 H4 acetylation levels were also associated with a decreased risk of sensitization to aeroallergens. | Epigenetic Modifications in Placenta are Associated with the Child's Sensitization to Allergens.
Harb H, Alashkar Alhamwe B, Acevedo N, Frumento P, Johansson C, Eick L, Papadogiannakis N, Alm J, Renz H, Potaczek DP, Scheynius A., Free PMC Article | 11/16/2019 |
| a tight association between overrepresentation of chromosome 21 and both CN-LOH 12q and SH2B3 abnormalities in B-ALL. | SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain.
Sinclair PB, Ryan S, Bashton M, Hollern S, Hanna R, Case M, Schwalbe EC, Schwab CJ, Cranston RE, Young BD, Irving JAE, Vora AJ, Moorman AV, Harrison CJ., Free PMC Article | 11/2/2019 |
| Study found that LNK is significantly elevated in cutaneous melanoma; this elevation is correlated with hyperactive signaling of the RAS-RAF-MEK pathway. Elevated LNK enhances cell growth and survival in adverse conditions. Forced expression of LNK inhibits signaling by interferon-STAT1 and suppresses interferon induced cell cycle arrest and cell apoptosis. | LNK suppresses interferon signaling in melanoma.
Ding LW, Sun QY, Edwards JJ, Fernández LT, Ran XB, Zhou SQ, Scolyer RA, Wilmott JS, Thompson JF, Doan N, Said JW, Venkatachalam N, Xiao JF, Loh XY, Pein M, Xu L, Mullins DW, Yang H, Lin DC, Koeffler HP., Free PMC Article | 06/8/2019 |
| Clinical significance of novel SH2B3 mutations in adult Chinese acute lymphoblastic leukemia patients. | Clinical significance of novel SH2B3 mutations in adult Chinese acute lymphoblastic leukemia patients.
Gu Y, Han Q, McGrath M, Song C, Ge Z. | 04/6/2019 |
| Loss of SH2B3 contributes to disease progression and raises the possibility that these leukemias may be sensitive to tyrosine kinase inhibitors. | SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia.
Baughn LB, Meredith MM, Oseth L, Smolarek TA, Hirsch B. | 03/16/2019 |
| The R262W polymorphism is associated with risk of coronary heart disease or myocardial infarction in Europeans, but not in Asians. | Role of SH2B3 R262W gene polymorphism and risk of coronary heart disease: A PRISMA-compliant meta-analysis.
Hong L, Jiang YF, Chen M, Zhang NN, Yang HJ, Rui Q, Zhou YF., Free PMC Article | 01/12/2019 |
| Significant associations were found for SH2B3 T allele and PTPN22 A allele and autoimmune hepatitis | Association of STAT4, TGFβ1, SH2B3 and PTPN22 polymorphisms with autoimmune hepatitis.
Chaouali M, Fernandes V, Ghazouani E, Pereira L, Kochkar R. | 01/5/2019 |
| As a novel finding, our study suggests a role for KCNK5 in the regulation of platelet size and maturity. Furthermore, our findings confirm an association between the SH2B3-locus and platelet count. | The SH2B3 and KCNK5 loci may be implicated in regulation of platelet count, volume, and maturity.
Christiansen MK, Larsen SB, Nyegaard M, Neergaard-Petersen S, Würtz M, Grove EL, Hvas AM, Jensen HK, Kristensen SD. | 08/11/2018 |
| Single-nucleotide polymorphism in SH2B3 gene is associated with Hashimoto's thyroiditis. | Association of established hypothyroidism-associated genetic variants with Hashimoto's thyroiditis.
Barić A, Brčić L, Gračan S, Torlak Lovrić V, Gunjača I, Šimunac M, Brekalo M, Boban M, Polašek O, Barbalić M, Zemunik T, Punda A, Boraska Perica V. | 08/4/2018 |
| four selected single-nucleotide polymorphisms (SNPs) in the SH2B3 gene were genotyped in 158 patients with AIH, 327 patients with primary biliary cholangitis, 160 patients with autoimmune pancreatitis, and 325 healthy subjects of Japanese descent. Our findings suggest that an SNP and haplotype in SH2B3 are associated with Autoimmune hepatitis. | Association of autoimmune hepatitis with Src homology 2 adaptor protein 3 gene polymorphisms in Japanese patients.
Umemura T, Joshita S, Hamano H, Yoshizawa K, Kawa S, Tanaka E, Ota M. | 06/23/2018 |
| In conclusion, germ line LNK mutations rarely occur in familial myeloproliferative neoplasms (MPNs) and do not segregate with the disease phenotype. The findings suggest that mutations in LNK, either germ line or acquired, may cooperate with acquired driver mutations in JAK2, CALR, or MPL to determine disease phenotype in MPNs. | LNK mutations in familial myeloproliferative neoplasms.
Rumi E, Harutyunyan AS, Pietra D, Feenstra JD, Cavalloni C, Roncoroni E, Casetti I, Bellini M, Milanesi C, Renna MC, Gotti M, Astori C, Kralovics R, Cazzola M. | 01/27/2018 |