Below are the most recent publications written about "Mutation" by people in Profiles.
-
Merlini L, Sabatelli P, Gualandi F, Redivo E, Di Martino A, Faldini C. New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients. Int J Mol Sci. 2023 Aug 05; 24(15).
-
Bulen BJ, Khazanov NA, Hovelson DH, Lamb LE, Matrana M, Burkard ME, Yang ES, Edenfield WJ, Claire Dees E, Onitilo AA, Buchschacher GL, Miller AM, Parsons BM, Wassenaar TR, Suga JM, Siegel RD, Irvin W, Nair S, Slim JN, Misleh J, Khatri J, Masters GA, Thomas S, Safa MM, Anderson DM, Mowers J, Dusenbery AC, Drewery S, Plouffe K, Reeder T, Vakil H, Patrias L, Falzetta A, Hamilton R, Kwiatkowski K, Johnson DB, Rhodes DR, Tomlins SA. Validation of Immunotherapy Response Score as Predictive of Pan-solid Tumor Anti-PD-1/PD-L1 Benefit. Cancer Res Commun. 2023 07; 3(7):1335-1349.
-
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients. Orphanet J Rare Dis. 2023 07 05; 18(1):177.
-
Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med. 2023 Jun; 29(6):1530-1539.
-
Meredith L, Chao T, Nevler A, Basu Mallick A, Singla RK, McCue PA, Bowne WB, Jiang W. A rare metastatic mesenteric malignant PEComa with TSC2 mutation treated with palliative surgical resection and nab-sirolimus: a case report. Diagn Pathol. 2023 Apr 11; 18(1):45.
-
Meyer SE. Context is key for FLT3-ITD. Blood. 2023 Mar 23; 141(12):1373-1374.
-
Rodler E, Sharma P, Barlow WE, Gralow JR, Puhalla SL, Anders CK, Goldstein L, Tripathy D, Brown-Glaberman UA, Huynh TT, Szyarto CS, Godwin AK, Pathak HB, Swisher EM, Radke MR, Timms KM, Lew DL, Miao J, Pusztai L, Hayes DF, Hortobagyi GN. Cisplatin with veliparib or placebo in metastatic triple-negative breast cancer and BRCA mutation-associated breast cancer (S1416): a randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol. 2023 02; 24(2):162-174.
-
Miller JJ, Gonzalez Castro LN, McBrayer S, Weller M, Cloughesy T, Portnow J, Andronesi O, Barnholtz-Sloan JS, Baumert BG, Berger MS, Bi WL, Bindra R, Cahill DP, Chang SM, Costello JF, Horbinski C, Huang RY, Jenkins RB, Ligon KL, Mellinghoff IK, Nabors LB, Platten M, Reardon DA, Shi DD, Schiff D, Wick W, Yan H, von Deimling A, van den Bent M, Kaelin WG, Wen PY. Isocitrate dehydrogenase (IDH) mutant gliomas: A Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions. Neuro Oncol. 2023 01 05; 25(1):4-25.
-
Tu WT, Hou PC, Chen PC, Chen WR, Huang HY, Wang JY, Huang YT, Wu YH, Su CL, Tang YA, Iwata H, Natsuga K, Chao SC, Sun HS, Tang MJ, Lee JY, McGrath JA, Hsu CK. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients. Orphanet J Rare Dis. 2022 12 28; 17(1):451.
-
Sivakumar S, Jin DX, Tukachinsky H, Murugesan K, McGregor K, Danziger N, Pavlick D, Gjoerup O, Ross JS, Harmon R, Chung J, Decker B, Dennis L, Frampton GM, Molinero L, Oesterreich S, Venstrom JM, Oxnard GR, Hegde PS, Sokol ES. Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer. Nat Commun. 2022 12 05; 13(1):7495.