| The impact of SBF2 on taxane-induced peripheral neuropathy. | The impact of SBF2 on taxane-induced peripheral neuropathy.
Cunningham GM, Shen F, Wu X, Cantor EL, Gardner L, Philips S, Jiang G, Bales CL, Tan Z, Liu Y, Wan J, Fehrenbacher JC, Schneider BP., Free PMC Article | 02/19/2022 |
| Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel. | Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.
Schneider BP, Lai D, Shen F, Jiang G, Radovich M, Li L, Gardner L, Miller KD, O'Neill A, Sparano JA, Xue G, Foroud T, Sledge GW Jr., Free PMC Article | 02/24/2018 |
| Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. | Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion.
Jean S, Cox S, Nassari S, Kiger AA., Free PMC Article | 12/12/2015 |
| SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2. | Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
Chen M, Wu J, Liang N, Tang L, Chen Y, Chen H, Wei W, Wei T, Huang H, Yi X, Qi M., Free PMC Article | 05/16/2015 |
| Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. | Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Abuzenadah AM, Zaher GF, Dallol A, Damanhouri GA, Chaudhary AG, Al-Sayes F, Gari MA, AlZahrani M, Hindawi S, Al-Qahtani MH. | 06/28/2014 |
| Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry. | Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
Wu C, Kraft P, Stolzenberg-Solomon R, Steplowski E, Brotzman M, Xu M, Mudgal P, Amundadottir L, Arslan AA, Bueno-de-Mesquita HB, Gross M, Helzlsouer K, Jacobs EJ, Kooperberg C, Petersen GM, Zheng W, Albanes D, Boutron-Ruault MC, Buring JE, Canzian F, Cao G, Duell EJ, Elena JW, Gaziano JM, Giovannucci EL, Hallmans G, Hutchinson A, Hunter DJ, Jenab M, Jiang G, Khaw KT, LaCroix A, Li Z, Mendelsohn JB, Panico S, Patel AV, Qian ZR, Riboli E, Sesso H, Shen H, Shu XO, Tjonneland A, Tobias GS, Trichopoulos D, Virtamo J, Visvanathan K, Wactawski-Wende J, Wang C, Yu K, Zeleniuch-Jacquotte A, Chanock S, Hoover R, Hartge P, Fuchs CS, Lin D, Wolpin BM., Free PMC Article | 02/15/2014 |
| REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases | Endosomal phosphoinositides and human diseases.
Nicot AS, Laporte J., Free PMC Article | 07/28/2010 |
| A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex | PtdIns5P regulation through evolution: roles in membrane trafficking?
Lecompte O, Poch O, Laporte J. | 07/28/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Chasman DI, Paré G, Mora S, Hopewell JC, Peloso G, Clarke R, Cupples LA, Hamsten A, Kathiresan S, Mälarstig A, Ordovas JM, Ripatti S, Parker AN, Miletich JP, Ridker PM., Free PMC Article | 01/20/2010 |
| review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies | Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Previtali SC, Quattrini A, Bolino A. | 01/21/2010 |
| FLNB and SBF2 are associated with human stature. | Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
Lei SF, Tan LJ, Liu XG, Wang L, Yan H, Guo YF, Liu YZ, Xiong DH, Li J, Yang TL, Chen XD, Guo Y, Deng FY, Zhang YP, Zhu XZ, Levy S, Papasian CJ, Hamilton JJ, Recker RR, Deng HW., Free PMC Article | 01/21/2010 |
| The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease. | A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A. | 01/21/2010 |
| Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork | Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E., Free PMC Article | 01/21/2010 |
| Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. | The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Robinson FL, Dixon JE. | 01/21/2010 |
| A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway. | SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. | 01/21/2010 |