Mutation
"Mutation" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Descriptor ID |
D009154
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MeSH Number(s) |
G05.365.590
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Mutation".
Below are MeSH descriptors whose meaning is more specific than "Mutation".
This graph shows the total number of publications written about "Mutation" by people in UAMS Profiles by year, and whether "Mutation" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2022 | 3 | 32 | 35 | 2021 | 16 | 35 | 51 | 2020 | 16 | 42 | 58 | 2019 | 17 | 44 | 61 | 2018 | 21 | 39 | 60 | 2017 | 18 | 39 | 57 | 2016 | 23 | 36 | 59 | 2015 | 18 | 39 | 57 | 2014 | 12 | 35 | 47 | 2013 | 13 | 39 | 52 | 2012 | 12 | 36 | 48 | 2011 | 16 | 31 | 47 | 2010 | 18 | 19 | 37 | 2009 | 16 | 17 | 33 | 2008 | 12 | 22 | 34 | 2007 | 10 | 19 | 29 | 2006 | 10 | 26 | 36 | 2005 | 8 | 27 | 35 | 2004 | 7 | 22 | 29 | 2003 | 11 | 24 | 35 | 2002 | 11 | 24 | 35 | 2001 | 4 | 12 | 16 | 2000 | 5 | 9 | 14 | 1999 | 3 | 8 | 11 | 1998 | 3 | 4 | 7 | 1997 | 4 | 4 | 8 | 1996 | 3 | 6 | 9 | 1995 | 2 | 2 | 4 | 1994 | 2 | 4 | 6 | 1993 | 0 | 1 | 1 | 1992 | 1 | 1 | 2 | 1991 | 1 | 1 | 2 | 1990 | 1 | 1 | 2 | 1989 | 0 | 2 | 2 | 1988 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Mutation" by people in Profiles over the past ten years.
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Samanta D. GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics. Epilepsy Res. 2023 Jan; 189:107065.
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Johann DJ, Shin IJ, Roberge A, Laun S, Peterson EA, Liu M, Steliga MA, Muesse J, Emmert-Buck MR, Tangrea MA. Effect of Antigen Retrieval on Genomic DNA From Immunodissected Samples. J Histochem Cytochem. 2022 09; 70(9):643-658.
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Samanta D, Ramakrishnaiah R, Frye RE. Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status. Neurol India. 2022 Sep-Oct; 70(5):2265-2267.
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Douglass DP, Navid F, Weiss AR. The Role of Pharmacotherapeutic Agents in Children with Desmoid Tumors. Paediatr Drugs. 2022 Sep; 24(5):433-445.
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Cai HC, Chen J, Liu T, Cai H, Duan MH, Li J, Zhou DB, Cao XX. Langerhans cell histiocytosis in adolescent patients: a single-centre retrospective study. Orphanet J Rare Dis. 2022 07 15; 17(1):268.
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Moon SH, Udaondo Z, Jun SR, Huang E. Cefiderocol heteroresistance in Klebsiella pneumoniae is linked to mutations in the siderophore receptor cirA and ß-lactamase activities. Int J Antimicrob Agents. 2022 09; 60(3):106635.
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Sudha P, Ahsan A, Ashby C, Kausar T, Khera A, Kazeroun MH, Hsu CC, Wang L, Fitzsimons E, Salminen O, Blaney P, Czader M, Williams J, Abu Zaid MI, Ansari-Pour N, Yong KL, van Rhee F, Pierceall WE, Morgan GJ, Flynt E, Gooding S, Abonour R, Ramasamy K, Thakurta A, Walker BA. Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma. Clin Cancer Res. 2022 07 01; 28(13):2854-2864.
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Tipton PW, Wierenga KJ, Wszolek ZK. Reply to: "The First Allogeneic Hematopoietic Stem Cell Transplantation in a Polish Patient with Adult-Onset Leukoencephalopathy with Spheroids and Pigmented Glia". Mov Disord. 2022 07; 37(7):1572-1573.
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ElSheikh RH, Aravindhan A, Boysen S, Veerapandiyan A. Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene. Pediatr Neurol. 2022 09; 134:71.
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Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. PLA2G6-associated neurodegeneration in four different populations-case series and literature review. Parkinsonism Relat Disord. 2022 08; 101:66-74.
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Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O. Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations. Parkinsonism Relat Disord. 2022 08; 101:31-38.
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Tu SM, Moran C, Norton W, Zacharias NM. Stem Cell Theory of Cancer: Origin of Metastasis and Sub-clonality. Semin Diagn Pathol. 2023 Jan; 40(1):63-68.
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Reasoner EE, van der Plas E, Al-Kaylani HM, Langbehn DR, Conrad AL, Schultz JL, Epping EA, Magnotta VA, Nopoulos PC. Behavioral features in child and adolescent huntingtin gene-mutation carriers. Brain Behav. 2022 07; 12(7):e2630.
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Wassenaar TM, Wanchai V, Buzard G, Ussery DW. The first three waves of the Covid-19 pandemic hint at a limited genetic repertoire for SARS-CoV-2. FEMS Microbiol Rev. 2022 05 06; 46(3).
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Ghosh RN, Guglani L, Westbrook AL, Mao CY, Bai S, Keens TG, Kasi AS. Impaired ventilation during 6-min walk test in congenital central hypoventilation syndrome. Pediatr Pulmonol. 2022 07; 57(7):1660-1667.
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Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genet Med. 2022 07; 24(7):1503-1511.
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Abushukair H, Syaj S, Ababneh O, Qarqash A, Schinke C, Thanendrarajan S, Zangari M, van Rhee F, Al Hadidi S. First- versus second-generation Bruton tyrosine kinase inhibitors in Waldenström's Macroglobulinemia: A systematic review and meta-analysis. Am J Hematol. 2022 07; 97(7):942-950.
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Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature. 2022 04; 604(7906):509-516.
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Fett J, Dimori M, Carroll JL, Morello R. Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers-Danlos syndrome. Physiol Rep. 2022 04; 10(8):e15275.
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Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S. Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study. PLoS One. 2022; 17(3):e0266112.
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Alagpulinsa DA, Toribio MP, Alhallak I, Shmookler Reis RJ. Advances in understanding the molecular basis of clonal hematopoiesis. Trends Mol Med. 2022 05; 28(5):360-377.
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Mao Y, Goulden P, Fan C, Maraka S. A novel MEN1 gene mutation associated with a pancreatic neuroendocrine tumor co-producing insulin and vasoactive intestinal polypeptide. Hormones (Athens). 2022 12; 21(4):743-745.
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Khan S, Wiegand J, Zhang P, Hu W, Thummuri D, Budamagunta V, Hua N, Jin L, Allegra CJ, Kopetz SE, Zajac-Kaye M, Kaye FJ, Zheng G, Zhou D. BCL-XL PROTAC degrader DT2216 synergizes with sotorasib in preclinical models of KRASG12C-mutated cancers. J Hematol Oncol. 2022 03 09; 15(1):23.
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Casado-Medrano V, O'Neill A, Halada S, Laetsch TW, Bauer AJ, Franco AT. NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives. Cancer Genet. 2022 06; 264-265:23-28.
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Boysen S, Elumalai V, ElSheikh RH, Aravindhan A, Veerapandiyan A. Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene. J Clin Neurosci. 2022 06; 100:212-213.
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Mansour HA, Chacko JA, Sanders RN, Schaefer GB, Uwaydat SH. Retinal Degeneration Associated With the G1606A Mitochondrial Mutation. Ophthalmic Surg Lasers Imaging Retina. 2022 02; 53(2):116-119.
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Smiech M, Leszczynski P, Wardell C, Poznanski P, Pierzchala M, Taniguchi H. Oncogenic Mutation BRAF V600E Changes Phenotypic Behavior of THLE-2 Liver Cells through Alteration of Gene Expression. Int J Mol Sci. 2022 Jan 28; 23(3).
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Zhang L, Moccia M, Briggs DC, Bharate JB, Lakkaniga NR, Knowles P, Yan W, Tran P, Kharbanda A, Wang X, Leung YK, Frett B, Santoro M, McDonald NQ, Carlomagno F, Li HY. Discovery of N-Trisubstituted Pyrimidine Derivatives as Type I RET and RET Gatekeeper Mutant Inhibitors with a Novel Kinase Binding Pose. J Med Chem. 2022 01 27; 65(2):1536-1551.
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Gambetta KE, McCulloch MA, Lal AK, Knecht K, Butts RJ, Villa CR, Johnson JN, Conway J, Bock MJ, Schumacher KR, Law SP, Friedland-Little JM, Deshpande SR, West SC, Lytrivi ID, Wittlieb-Weber CA. Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. Pediatr Cardiol. 2022 Apr; 43(4):855-867.
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Ricarte-Filho JC, Halada S, O'Neill A, Casado-Medrano V, Laetsch TW, Franco AT, Bauer AJ. The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer. Cancer Genet. 2022 04; 262-263:57-63.
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Koga S, Tipton PW, Wierenga KJ, Dickson DW, Wszolek ZK. Neuropathological Findings of CSF1R-Related Leukoencephalopathy After Long-Term Immunosuppressive Therapy. Mov Disord. 2022 02; 37(2):439-440.
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Franco AT, Ricarte-Filho JC, Isaza A, Jones Z, Jain N, Mostoufi-Moab S, Surrey L, Laetsch TW, Li MM, DeHart JC, Reichenberger E, Taylor D, Kazahaya K, Adzick NS, Bauer AJ. Fusion Oncogenes Are Associated With Increased Metastatic Capacity and Persistent Disease in Pediatric Thyroid Cancers. J Clin Oncol. 2022 04 01; 40(10):1081-1090.
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Harada Y, Sato A, Araki M, Matsumoto S, Isaka Y, Sagae Y, Abe T, Aoyagi Y, Sueoka E, Okuno Y, Kimura S, Sueoka-Aragane N. Integrated approach to functional analysis of an ERBB2 variant of unknown significance detected by a cancer gene panel test. Cell Oncol (Dordr). 2022 Feb; 45(1):121-134.
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Khan M, Guzman MA, Tanios A. Story of the solitary subependymal giant cell astrocytoma: A case report and literature review. Clin Neuropathol. 2022 Jan-Feb; 41(1):6-11.
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Hecht A, Meyer JA, Behnert A, Wong E, Chehab F, Olshen A, Hechmer A, Aftandilian C, Bhat R, Choi SW, Chonat S, Farrar JE, Fluchel M, Frangoul H, Han JH, Kolb EA, Kuo DJ, MacMillan ML, Maese L, Maloney KW, Narendran A, Oshrine B, Schultz KR, Sulis ML, Van Mater D, Tasian SK, Hofmann WK, Loh ML, Stieglitz E. Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia. Haematologica. 2022 01 01; 107(1):178-186.
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Suwala AK, Felix M, Friedel D, Stichel D, Schrimpf D, Hinz F, Hewer E, Schweizer L, Dohmen H, Pohl U, Staszewski O, Korshunov A, Stein M, Wongsurawat T, Cheunsuacchon P, Sathornsumetee S, Koelsche C, Turner C, Le Rhun E, Mühlebner A, Schucht P, Özduman K, Ono T, Shimizu H, Prinz M, Acker T, Herold-Mende C, Kessler T, Wick W, Capper D, Wesseling P, Sahm F, von Deimling A, Hartmann C, Reuss DE. Oligosarcomas, IDH-mutant are distinct and aggressive. Acta Neuropathol. 2022 02; 143(2):263-281.
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Henriksen RA, Jenjaroenpun P, Sjøstrøm IB, Jensen KR, Prada-Luengo I, Wongsurawat T, Nookaew I, Regenberg B. Circular DNA in the human germline and its association with recombination. Mol Cell. 2022 01 06; 82(1):209-217.e7.
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Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
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Quintanal-Villalonga A, Taniguchi H, Zhan YA, Hasan MM, Chavan SS, Meng F, Uddin F, Manoj P, Donoghue MTA, Won HH, Chan JM, Ciampricotti M, Chow A, Offin M, Chang JC, Ray-Kirton J, Tischfield SE, Egger J, Bhanot UK, Linkov I, Asher M, Sinha S, Silber J, Iacobuzio-Donahue CA, Roehrl MH, Hollmann TJ, Yu HA, Qiu J, de Stanchina E, Baine MK, Rekhtman N, Poirier JT, Loomis B, Koche RP, Rudin CM, Sen T. Multiomic Analysis of Lung Tumors Defines Pathways Activated in Neuroendocrine Transformation. Cancer Discov. 2021 12 01; 11(12):3028-3047.
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Rom JS, Beenken KE, Ramirez AM, Walker CM, Echols EJ, Smeltzer MS. Limiting protease production plays a key role in the pathogenesis of the divergent clinical isolates of Staphylococcus aureus LAC and UAMS-1. Virulence. 2021 12; 12(1):584-600.
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D'Souza Z, Sumya FT, Khakurel A, Lupashin V. Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation. Cells. 2021 11 23; 10(12).
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Douglass DP, Stine KC, Farrar JE. A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance. J Pediatr Hematol Oncol. 2021 Nov 01; 43(8):e1220-e1222.
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Byron SA, Hendricks WPD, Nagulapally AB, Kraveka JM, Ferguson WS, Brown VI, Eslin DE, Mitchell D, Cornelius A, Roberts W, Isakoff MS, Oesterheld JE, Wada RK, Rawwas J, Neville K, Zage PE, Harrod VL, Bergendahl G, VanSickle E, Dykema K, Bond J, Chou HC, Wei JS, Wen X, Reardon HV, Roos A, Nasser S, Izatt T, Enriquez D, Hegde AM, Cisneros F, Christofferson A, Turner B, Szelinger S, Keats JJ, Halperin RF, Khan J, Saulnier Sholler GL, Trent JM. Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion. Cancer Res. 2021 12 01; 81(23):5818-5832.
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Chen J, Zhao AL, Duan MH, Cai H, Gao XM, Liu T, Sun J, Liang ZY, Zhou DB, Cao XX, Li J. Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis. Leukemia. 2022 02; 36(2):573-576.
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Nanah A, Al Hadidi S. Bing-Neel Syndrome: Update on the Diagnosis and Treatment. Clin Lymphoma Myeloma Leuk. 2022 03; 22(3):e213-e219.
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Wolfe AR, Chablani P, Siedow MR, Miller ED, Walston S, Kendra KL, Wuthrick E, Williams TM. BRAF mutation correlates with worse local-regional control following radiation therapy in patients with stage III melanoma. Radiat Oncol. 2021 Sep 18; 16(1):181.
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Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 10; 9(10):e1799.
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Dhasakeerthi T, Aravindhan A, Woodall A, Mills W, Veerapandiyan A. Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene. J Clin Neuromuscul Dis. 2021 Sep 01; 23(1):54-55.
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Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review. Dev Neurosci. 2021; 43(6):348-357.
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Zhang L, Lakkaniga NR, Bharate JB, Mcconnell N, Wang X, Kharbanda A, Leung YK, Frett B, Shah NP, Li HY. Discovery of imidazo[1,2-a]pyridine-thiophene derivatives as FLT3 and FLT3 mutants inhibitors for acute myeloid leukemia through structure-based optimization of an NEK2 inhibitor. Eur J Med Chem. 2021 Dec 05; 225:113776.
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Jones JR, Barber A, Le Bihan YV, Weinhold N, Ashby C, Walker BA, Wardell CP, Wang H, Kaiser MF, Jackson GH, Davies FE, Chopra R, Morgan GJ, Pawlyn C. Mutations in CRBN and other cereblon pathway genes are infrequently associated with acquired resistance to immunomodulatory drugs. Leukemia. 2021 10; 35(10):3017-3020.
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Muecksch F, Weisblum Y, Barnes CO, Schmidt F, Schaefer-Babajew D, Wang Z, C Lorenzi JC, Flyak AI, DeLaitsch AT, Huey-Tubman KE, Hou S, Schiffer CA, Gaebler C, Da Silva J, Poston D, Finkin S, Cho A, Cipolla M, Oliveira TY, Millard KG, Ramos V, Gazumyan A, Rutkowska M, Caskey M, Nussenzweig MC, Bjorkman PJ, Hatziioannou T, Bieniasz PD. Affinity maturation of SARS-CoV-2 neutralizing antibodies confers potency, breadth, and resilience to viral escape mutations. Immunity. 2021 08 10; 54(8):1853-1868.e7.
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Greaney AJ, Starr TN, Barnes CO, Weisblum Y, Schmidt F, Caskey M, Gaebler C, Cho A, Agudelo M, Finkin S, Wang Z, Poston D, Muecksch F, Hatziioannou T, Bieniasz PD, Robbiani DF, Nussenzweig MC, Bjorkman PJ, Bloom JD. Mapping mutations to the SARS-CoV-2 RBD that escape binding by different classes of antibodies. Nat Commun. 2021 07 07; 12(1):4196.
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Garitano-Trojaola A, Sancho A, Götz R, Eiring P, Walz S, Jetani H, Gil-Pulido J, Da Via MC, Teufel E, Rhodes N, Haertle L, Arellano-Viera E, Tibes R, Rosenwald A, Rasche L, Hudecek M, Sauer M, Groll J, Einsele H, Kraus S, Kortüm MK. Actin cytoskeleton deregulation confers midostaurin resistance in FLT3-mutant acute myeloid leukemia. Commun Biol. 2021 06 25; 4(1):799.
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Fowlkes JL, Thrailkill KM, Bunn RC. RASopathies: The musculoskeletal consequences and their etiology and pathogenesis. Bone. 2021 11; 152:116060.
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Nduom EK, Gephart MH, Chheda MG, Suva ML, Amankulor N, Battiste JD, Campian JL, Dacey RG, Das S, Fecci PE, Hadjipanayis CG, Hoang KB, Jalali A, Orringer D, Patel AJ, Placantonakis D, Rodriguez A, Yang I, Yu JS, Zipfel GJ, Dunn GP, Leuthardt EC, Kim AH. Re-evaluating Biopsy for Recurrent Glioblastoma: A Position Statement by the Christopher Davidson Forum Investigators. Neurosurgery. 2021 06 15; 89(1):129-132.
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Wang Y, Mittelstaedt RA, Wynne R, Chen Y, Cao X, Muskhelishvili L, Davis K, Robison TW, Sun W, Schmidt EK, Smith TH, Norgaard ZK, Valentine CC, Yaplee J, Williams LN, Salk JJ, Heflich RH. Genetic toxicity testing using human in vitro organotypic airway cultures: Assessing DNA damage with the CometChip and mutagenesis by Duplex Sequencing. Environ Mol Mutagen. 2021 06; 62(5):306-318.
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Bakare AB, Daniel J, Stabach J, Rojas A, Bell A, Henry B, Iyer S. Quantifying Mitochondrial Dynamics in Patient Fibroblasts with Multiple Developmental Defects and Mitochondrial Disorders. Int J Mol Sci. 2021 Jun 10; 22(12).
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Maura F, Weinhold N, Diamond B, Kazandjian D, Rasche L, Morgan G, Landgren O. The mutagenic impact of melphalan in multiple myeloma. Leukemia. 2021 08; 35(8):2145-2150.
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Chakiryan NH, Hajiran A, Kim Y, Aydin AM, Zemp L, Katende E, Nguyen J, Fan W, Cheng CH, Lopez-Blanco N, Chahoud J, Spiess PE, Fournier M, Dhillon J, Wang L, Moran-Segura C, Mulé J, Du D, Yoder SJ, Berglund A, Teer JK, Manley BJ. Correlating Immune Cell Infiltration Patterns with Recurrent Somatic Mutations in Advanced Clear Cell Renal Cell Carcinoma. Eur Urol Focus. 2022 05; 8(3):784-793.
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Xu Q, Liu Q, Chen Z, Yue Y, Liu Y, Zhao Y, Zhou DX. Histone deacetylases control lysine acetylation of ribosomal proteins in rice. Nucleic Acids Res. 2021 05 07; 49(8):4613-4628.
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Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A. Haematologica. 2021 05 01; 106(5):1303-1310.
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Choi J, Manzano A, Dong W, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD. Integrated mutational landscape analysis of uterine leiomyosarcomas. Proc Natl Acad Sci U S A. 2021 04 13; 118(15).
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Vijayan M, Bose C, Reddy PH. Protective effects of a small molecule inhibitor, DDQ against amyloid beta in Alzheimer's disease. Mitochondrion. 2021 07; 59:17-29.
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Oltvai ZN, Harley SE, Koes D, Michel S, Warlick ED, Nelson AC, Yohe S, Mroz P. Assessing acquired resistance to IDH1 inhibitor therapy by full-exon IDH1 sequencing and structural modeling. Cold Spring Harb Mol Case Stud. 2021 04; 7(2).
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McCarty TR, Paleti S, Rustagi T. Molecular analysis of EUS-acquired pancreatic cyst fluid for KRAS and GNAS mutations for diagnosis of intraductal papillary mucinous neoplasia and mucinous cystic lesions: a systematic review and meta-analysis. Gastrointest Endosc. 2021 05; 93(5):1019-1033.e5.
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Sadr AS, Eslahchi C, Ghassempour A, Kiaei M. In silico studies reveal structural deviations of mutant profilin-1 and interaction with riluzole and edaravone in amyotrophic lateral sclerosis. Sci Rep. 2021 03 25; 11(1):6849.
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Alkam D, Jenjaroenpun P, Ramirez AM, Beenken KE, Spencer HJ, Smeltzer MS. The Increased Accumulation of Staphylococcus aureus Virulence Factors Is Maximized in a purR Mutant by the Increased Production of SarA and Decreased Production of Extracellular Proteases. Infect Immun. 2021 03 17; 89(4).
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Hölzl-Armstrong L, Kucab JE, Zwart EP, Luijten M, Phillips DH, Arlt VM. Mutagenicity of N-hydroxy-4-aminobiphenyl in human TP53 knock-in (Hupki) mouse embryo fibroblasts. Environ Mol Mutagen. 2021 04; 62(4):252-264.
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Zarate YA, Örsell JL, Bosanko K, Srikanth S, Cascio L, Pauly R, Boccuto L. Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations. Metab Brain Dis. 2021 06; 36(5):1049-1056.
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Bauer MA, Ashby C, Wardell C, Boyle EM, Ortiz M, Flynt E, Thakurta A, Morgan G, Walker BA. Differential RNA splicing as a potentially important driver mechanism in multiple myeloma. Haematologica. 2021 03 01; 106(3):736-745.
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Ketkar A, Smith L, Johnson C, Richey A, Berry M, Hartman JH, Maddukuri L, Reed MR, Gunderson JEC, Leung JWC, Eoff RL. Human Rev1 relies on insert-2 to promote selective binding and accurate replication of stabilized G-quadruplex motifs. Nucleic Acids Res. 2021 02 26; 49(4):2065-2084.
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Schultz JL, van der Plas E, Langbehn DR, Conrad AL, Nopoulos PC. Age-Related Cognitive Changes as a Function of CAG Repeat in Child and Adolescent Carriers of Mutant Huntingtin. Ann Neurol. 2021 05; 89(5):1036-1040.
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Wardell CP, Ashby C, Bauer MA. FiNGS: high quality somatic mutations using filters for next generation sequencing. BMC Bioinformatics. 2021 Feb 18; 22(1):77.
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