 Germ-Line Mutation
"Germ-Line 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 alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
| Descriptor ID |
D018095
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| MeSH Number(s) |
G05.365.590.350
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| Concept/Terms |
Germ-Line Mutation- Germ-Line Mutation
- Germ Line Mutation
- Germline Mutation
- Germline Mutations
- Mutation, Germline
- Mutations, Germline
- Mutation, Germ-Line
- Germ-Line Mutations
- Mutation, Germ Line
- Mutations, Germ-Line
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Below are MeSH descriptors whose meaning is more general than "Germ-Line Mutation".
Below are MeSH descriptors whose meaning is more specific than "Germ-Line Mutation".
This graph shows the total number of publications written about "Germ-Line Mutation" by people in this website by year, and whether "Germ-Line 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 |
|---|
| 1994 | 0 | 1 | 1 | | 1995 | 1 | 0 | 1 | | 1996 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1999 | 1 | 0 | 1 | | 2001 | 0 | 1 | 1 | | 2003 | 2 | 1 | 3 | | 2004 | 2 | 1 | 3 | | 2005 | 3 | 1 | 4 | | 2008 | 0 | 1 | 1 | | 2009 | 0 | 2 | 2 | | 2010 | 1 | 3 | 4 | | 2011 | 1 | 2 | 3 | | 2012 | 2 | 2 | 4 | | 2013 | 0 | 1 | 1 | | 2014 | 1 | 3 | 4 | | 2015 | 2 | 3 | 5 | | 2016 | 2 | 0 | 2 | | 2017 | 2 | 9 | 11 | | 2018 | 1 | 5 | 6 | | 2019 | 5 | 5 | 10 | | 2020 | 1 | 4 | 5 | | 2021 | 4 | 8 | 12 | | 2022 | 3 | 1 | 4 | | 2023 | 2 | 1 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Germ-Line Mutation" by people in Profiles.
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Doughty ES, Norvik C, Levin A, Bodmer J, Tran-Lundmark K, Abman SH, Galambos C. Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype. Pediatr Dev Pathol. 2024 Jan-Feb; 27(1):83-89.
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Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Redline S, Cade BE, Gilliland FD, Chen Z, Gauderman WJ, Kumar R, Grammer L, Schleimer RP, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Weiss ST, Lasky-Su J, DeMeo DL, Palmer ND, Freedman BI, Bowden DW, Cho MH, Vasan RS, Johnson AD, Yanek LR, Becker LC, Kardia S, He J, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Manichaikul AW, Konkle BA, Johnsen JM, Wheeler MM, Custer BS, Duggirala R, Curran JE, Blangero J, Gui H, Xiao S, Williams LK, Meyers DA, Li X, Ortega V, McGarvey S, Gu CC, Chen YI, Lee WJ, Shoemaker MB, Darbar D, Roden D, Albert C, Kooperberg C, Desai P, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Mathias R, Natarajan P, Jaiswal S, Reiner AP, Bick AG. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 04 28; 9(17):eabm4945.
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Castle AMR, Empringham B, Pinto LM, Villani A, Kanwar N, Abbott LS, Sawyer SL. Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature. Pediatr Hematol Oncol. 2023; 40(5):506-515.
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Zhou C, Uluisik R, Rowley JW, David C, Jones CL, Scharer CD, Noetzli L, Fisher MH, Kirkpatrick GD, Bark K, Boss JM, Henry CJ, Pietras EM, Di Paola J, Porter CC. Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors. Exp Hematol. 2022 Aug-Sep; 112-113:24-34.
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Summers RJ, Castellino SM, Porter CC, MacDonald TJ, Basu GD, Szelinger S, Bhasin MK, Cash T, Carter AB, Castellino RC, Fangusaro JR, Mitchell SG, Pauly MG, Pencheva B, Wechsler DS, Graham DK, Goldsmith KC. Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care. JCO Precis Oncol. 2022 04; 6:e2100451.
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Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, Solis-Ruiz J, Borate U, Wilmot B, Tognon C, Bock AM, Pollyea DA, Radhakrishnan S, Radhakrishnan S, Patel P, Collins RH, Tantravahi S, Deininger MW, Fan G, Druker B, Shinde U, Tyner JW, Press RD, McWeeney S, Agarwal A. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood. 2022 02 24; 139(8):1208-1221.
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Das A, Sudhaman S, Morgenstern D, Coblentz A, Chung J, Stone SC, Alsafwani N, Liu ZA, Karsaneh OAA, Soleimani S, Ladany H, Chen D, Zatzman M, Cabric V, Nobre L, Bianchi V, Edwards M, Sambira Nahum LC, Ercan AB, Nabbi A, Constantini S, Dvir R, Yalon-Oren M, Campino GA, Caspi S, Larouche V, Reddy A, Osborn M, Mason G, Lindhorst S, Bronsema A, Magimairajan V, Opocher E, De Mola RL, Sabel M, Frojd C, Sumerauer D, Samuel D, Cole K, Chiaravalli S, Massimino M, Tomboc P, Ziegler DS, George B, Van Damme A, Hijiya N, Gass D, McGee RB, Mordechai O, Bowers DC, Laetsch TW, Lossos A, Blumenthal DT, Sarosiek T, Yen LY, Knipstein J, Bendel A, Hoffman LM, Luna-Fineman S, Zimmermann S, Scheers I, Nichols KE, Zapotocky M, Hansford JR, Maris JM, Dirks P, Taylor MD, Kulkarni AV, Shroff M, Tsang DS, Villani A, Xu W, Aronson M, Durno C, Shlien A, Malkin D, Getz G, Maruvka YE, Ohashi PS, Hawkins C, Pugh TJ, Bouffet E, Tabori U. Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nat Med. 2022 01; 28(1):125-135.
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Karlitz JJ, Phillips A, Sorrells KS, Rao S. Genetic Analysis of Archived Tumor Specimens for Hereditary Colorectal Cancer Syndromes in the Cajuns of Louisiana, a US Founder Population. Clin Transl Gastroenterol. 2021 09 21; 12(9):e00392.
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Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de las Fuentes L, Hwu CM, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 Aug 27; 373(6558):1030-1035.
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Self C, Suttman A, Wolfe Schneider K, Hoffman L. Lynch syndrome: further defining the pediatric spectrum. Cancer Genet. 2021 11; 258-259:37-40.
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