Literature DB >> 22641203

Exploring the variation within.

Evan Z Macosko, Steven A McCarroll.   

Abstract

We usually think of an individual's cells as sharing the same genome. Challenging this notion, two new studies show that somatic mosaicism is common and can be an early herald of cancer.

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Mesh:

Year:  2012        PMID: 22641203     DOI: 10.1038/ng.2311

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  12 in total

1.  Age-related somatic structural changes in the nuclear genome of human blood cells.

Authors:  Lars A Forsberg; Chiara Rasi; Hamid R Razzaghian; Geeta Pakalapati; Lindsay Waite; Krista Stanton Thilbeault; Anna Ronowicz; Nathan E Wineinger; Hemant K Tiwari; Dorret Boomsma; Maxwell P Westerman; Jennifer R Harris; Robert Lyle; Magnus Essand; Fredrik Eriksson; Themistocles L Assimes; Carlos Iribarren; Eric Strachan; Terrance P O'Hanlon; Lisa G Rider; Frederick W Miller; Vilmantas Giedraitis; Lars Lannfelt; Martin Ingelsson; Arkadiusz Piotrowski; Nancy L Pedersen; Devin Absher; Jan P Dumanski
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

2.  The complete genome of an individual by massively parallel DNA sequencing.

Authors:  David A Wheeler; Maithreyan Srinivasan; Michael Egholm; Yufeng Shen; Lei Chen; Amy McGuire; Wen He; Yi-Ju Chen; Vinod Makhijani; G Thomas Roth; Xavier Gomes; Karrie Tartaro; Faheem Niazi; Cynthia L Turcotte; Gerard P Irzyk; James R Lupski; Craig Chinault; Xing-zhi Song; Yue Liu; Ye Yuan; Lynne Nazareth; Xiang Qin; Donna M Muzny; Marcel Margulies; George M Weinstock; Richard A Gibbs; Jonathan M Rothberg
Journal:  Nature       Date:  2008-04-17       Impact factor: 49.962

Review 3.  Myelodysplastic syndromes.

Authors:  Ayalew Tefferi; James W Vardiman
Journal:  N Engl J Med       Date:  2009-11-05       Impact factor: 91.245

4.  Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.

Authors:  Benjamín Rodríguez-Santiago; Núria Malats; Nathaniel Rothman; Lluís Armengol; Montse Garcia-Closas; Manolis Kogevinas; Olaya Villa; Amy Hutchinson; Julie Earl; Gaëlle Marenne; Kevin Jacobs; Daniel Rico; Adonina Tardón; Alfredo Carrato; Gilles Thomas; Alfonso Valencia; Debra Silverman; Francisco X Real; Stephen J Chanock; Luis A Pérez-Jurado
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

5.  Evidence for somatic rearrangement of immunoglobulin genes coding for variable and constant regions.

Authors:  N Hozumi; S Tonegawa
Journal:  Proc Natl Acad Sci U S A       Date:  1976-10       Impact factor: 11.205

6.  Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Authors:  Laura K Conlin; Brian D Thiel; Carsten G Bonnemann; Livija Medne; Linda M Ernst; Elaine H Zackai; Matthew A Deardorff; Ian D Krantz; Hakon Hakonarson; Nancy B Spinner
Journal:  Hum Mol Genet       Date:  2010-01-06       Impact factor: 6.150

7.  The chromosomal basis of human neoplasia.

Authors:  J J Yunis
Journal:  Science       Date:  1983-07-15       Impact factor: 47.728

Review 8.  Mechanisms and consequences of somatic mosaicism in humans.

Authors:  Hagop Youssoufian; Reed E Pyeritz
Journal:  Nat Rev Genet       Date:  2002-10       Impact factor: 53.242

9.  Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Authors:  Cathy C Laurie; Cecelia A Laurie; Kenneth Rice; Kimberly F Doheny; Leila R Zelnick; Caitlin P McHugh; Hua Ling; Kurt N Hetrick; Elizabeth W Pugh; Chris Amos; Qingyi Wei; Li-e Wang; Jeffrey E Lee; Kathleen C Barnes; Nadia N Hansel; Rasika Mathias; Denise Daley; Terri H Beaty; Alan F Scott; Ingo Ruczinski; Rob B Scharpf; Laura J Bierut; Sarah M Hartz; Maria Teresa Landi; Neal D Freedman; Lynn R Goldin; David Ginsburg; Jun Li; Karl C Desch; Sara S Strom; William J Blot; Lisa B Signorello; Sue A Ingles; Stephen J Chanock; Sonja I Berndt; Loic Le Marchand; Brian E Henderson; Kristine R Monroe; John A Heit; Mariza de Andrade; Sebastian M Armasu; Cynthia Regnier; William L Lowe; M Geoffrey Hayes; Mary L Marazita; Eleanor Feingold; Jeffrey C Murray; Mads Melbye; Bjarke Feenstra; Jae H Kang; Janey L Wiggs; Gail P Jarvik; Andrew N McDavid; Venkatraman E Seshan; Daniel B Mirel; Andrew Crenshaw; Nataliya Sharopova; Anastasia Wise; Jess Shen; David R Crosslin; David M Levine; Xiuwen Zheng; Jenna I Udren; Siiri Bennett; Sarah C Nelson; Stephanie M Gogarten; Matthew P Conomos; Patrick Heagerty; Teri Manolio; Louis R Pasquale; Christopher A Haiman; Neil Caporaso; Bruce S Weir
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330

10.  Detectable clonal mosaicism and its relationship to aging and cancer.

Authors:  Kevin B Jacobs; Meredith Yeager; Weiyin Zhou; Sholom Wacholder; Zhaoming Wang; Benjamin Rodriguez-Santiago; Amy Hutchinson; Xiang Deng; Chenwei Liu; Marie-Josephe Horner; Michael Cullen; Caroline G Epstein; Laurie Burdett; Michael C Dean; Nilanjan Chatterjee; Joshua Sampson; Charles C Chung; Joseph Kovaks; Susan M Gapstur; Victoria L Stevens; Lauren T Teras; Mia M Gaudet; Demetrius Albanes; Stephanie J Weinstein; Jarmo Virtamo; Philip R Taylor; Neal D Freedman; Christian C Abnet; Alisa M Goldstein; Nan Hu; Kai Yu; Jian-Min Yuan; Linda Liao; Ti Ding; You-Lin Qiao; Yu-Tang Gao; Woon-Puay Koh; Yong-Bing Xiang; Ze-Zhong Tang; Jin-Hu Fan; Melinda C Aldrich; Christopher Amos; William J Blot; Cathryn H Bock; Elizabeth M Gillanders; Curtis C Harris; Christopher A Haiman; Brian E Henderson; Laurence N Kolonel; Loic Le Marchand; Lorna H McNeill; Benjamin A Rybicki; Ann G Schwartz; Lisa B Signorello; Margaret R Spitz; John K Wiencke; Margaret Wrensch; Xifeng Wu; Krista A Zanetti; Regina G Ziegler; Jonine D Figueroa; Montserrat Garcia-Closas; Nuria Malats; Gaelle Marenne; Ludmila Prokunina-Olsson; Dalsu Baris; Molly Schwenn; Alison Johnson; Maria Teresa Landi; Lynn Goldin; Dario Consonni; Pier Alberto Bertazzi; Melissa Rotunno; Preetha Rajaraman; Ulrika Andersson; Laura E Beane Freeman; Christine D Berg; Julie E Buring; Mary A Butler; Tania Carreon; Maria Feychting; Anders Ahlbom; J Michael Gaziano; Graham G Giles; Goran Hallmans; Susan E Hankinson; Patricia Hartge; Roger Henriksson; Peter D Inskip; Christoffer Johansen; Annelie Landgren; Roberta McKean-Cowdin; Dominique S Michaud; Beatrice S Melin; Ulrike Peters; Avima M Ruder; Howard D Sesso; Gianluca Severi; Xiao-Ou Shu; Kala Visvanathan; Emily White; Alicja Wolk; Anne Zeleniuch-Jacquotte; Wei Zheng; Debra T Silverman; Manolis Kogevinas; Juan R Gonzalez; Olaya Villa; Donghui Li; Eric J Duell; Harvey A Risch; Sara H Olson; Charles Kooperberg; Brian M Wolpin; Li Jiao; Manal Hassan; William Wheeler; Alan A Arslan; H Bas Bueno-de-Mesquita; Charles S Fuchs; Steven Gallinger; Myron D Gross; Elizabeth A Holly; Alison P Klein; Andrea LaCroix; Margaret T Mandelson; Gloria Petersen; Marie-Christine Boutron-Ruault; Paige M Bracci; Federico Canzian; Kenneth Chang; Michelle Cotterchio; Edward L Giovannucci; Michael Goggins; Judith A Hoffman Bolton; Mazda Jenab; Kay-Tee Khaw; Vittorio Krogh; Robert C Kurtz; Robert R McWilliams; Julie B Mendelsohn; Kari G Rabe; Elio Riboli; Anne Tjønneland; Geoffrey S Tobias; Dimitrios Trichopoulos; Joanne W Elena; Herbert Yu; Laufey Amundadottir; Rachael Z Stolzenberg-Solomon; Peter Kraft; Fredrick Schumacher; Daniel Stram; Sharon A Savage; Lisa Mirabello; Irene L Andrulis; Jay S Wunder; Ana Patiño García; Luis Sierrasesúmaga; Donald A Barkauskas; Richard G Gorlick; Mark Purdue; Wong-Ho Chow; Lee E Moore; Kendra L Schwartz; Faith G Davis; Ann W Hsing; Sonja I Berndt; Amanda Black; Nicolas Wentzensen; Louise A Brinton; Jolanta Lissowska; Beata Peplonska; Katherine A McGlynn; Michael B Cook; Barry I Graubard; Christian P Kratz; Mark H Greene; Ralph L Erickson; David J Hunter; Gilles Thomas; Robert N Hoover; Francisco X Real; Joseph F Fraumeni; Neil E Caporaso; Margaret Tucker; Nathaniel Rothman; Luis A Pérez-Jurado; Stephen J Chanock
Journal:  Nat Genet       Date:  2012-05-06       Impact factor: 38.330

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  6 in total

1.  It is time to take timing seriously in clinical genetics.

Authors:  György Kosztolányi
Journal:  Eur J Hum Genet       Date:  2014-12-24       Impact factor: 4.246

Review 2.  Individualized medicine from prewomb to tomb.

Authors:  Eric J Topol
Journal:  Cell       Date:  2014-03-27       Impact factor: 41.582

Review 3.  De novo mutations, genetic mosaicism and human disease.

Authors:  Mohiuddin Mohiuddin; R Frank Kooy; Christopher E Pearson
Journal:  Front Genet       Date:  2022-09-26       Impact factor: 4.772

4.  Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.

Authors:  Christos Proukakis; Henry Houlden; Anthony H Schapira
Journal:  Mov Disord       Date:  2013-05-14       Impact factor: 10.338

5.  Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene.

Authors:  Michelle N Mary-Sinclair; Xiaofei Wang; Douglas J Swanson; Caroline Y Sung; Eneida A Mendonca; Kristen Wroblewski; Shannon H Baumer; Dan Goldowitz; Monica M Jablonski; Stephen X Skapek
Journal:  Mol Vis       Date:  2014-03-03       Impact factor: 2.367

6.  Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Authors:  Mitchell J Machiela; Weiyin Zhou; Eric Karlins; Joshua N Sampson; Neal D Freedman; Qi Yang; Belynda Hicks; Casey Dagnall; Christopher Hautman; Kevin B Jacobs; Christian C Abnet; Melinda C Aldrich; Christopher Amos; Laufey T Amundadottir; Alan A Arslan; Laura E Beane-Freeman; Sonja I Berndt; Amanda Black; William J Blot; Cathryn H Bock; Paige M Bracci; Louise A Brinton; H Bas Bueno-de-Mesquita; Laurie Burdett; Julie E Buring; Mary A Butler; Federico Canzian; Tania Carreón; Kari G Chaffee; I-Shou Chang; Nilanjan Chatterjee; Chu Chen; Constance Chen; Kexin Chen; Charles C Chung; Linda S Cook; Marta Crous Bou; Michael Cullen; Faith G Davis; Immaculata De Vivo; Ti Ding; Jennifer Doherty; Eric J Duell; Caroline G Epstein; Jin-Hu Fan; Jonine D Figueroa; Joseph F Fraumeni; Christine M Friedenreich; Charles S Fuchs; Steven Gallinger; Yu-Tang Gao; Susan M Gapstur; Montserrat Garcia-Closas; Mia M Gaudet; J Michael Gaziano; Graham G Giles; Elizabeth M Gillanders; Edward L Giovannucci; Lynn Goldin; Alisa M Goldstein; Christopher A Haiman; Goran Hallmans; Susan E Hankinson; Curtis C Harris; Roger Henriksson; Elizabeth A Holly; Yun-Chul Hong; Robert N Hoover; Chao A Hsiung; Nan Hu; Wei Hu; David J Hunter; Amy Hutchinson; Mazda Jenab; Christoffer Johansen; Kay-Tee Khaw; Hee Nam Kim; Yeul Hong Kim; Young Tae Kim; Alison P Klein; Robert Klein; Woon-Puay Koh; Laurence N Kolonel; Charles Kooperberg; Peter Kraft; Vittorio Krogh; Robert C Kurtz; Andrea LaCroix; Qing Lan; Maria Teresa Landi; Loic Le Marchand; Donghui Li; Xiaolin Liang; Linda M Liao; Dongxin Lin; Jianjun Liu; Jolanta Lissowska; Lingeng Lu; Anthony M Magliocco; Nuria Malats; Keitaro Matsuo; Lorna H McNeill; Robert R McWilliams; Beatrice S Melin; Lisa Mirabello; Lee Moore; Sara H Olson; Irene Orlow; Jae Yong Park; Ana Patiño-Garcia; Beata Peplonska; Ulrike Peters; Gloria M Petersen; Loreall Pooler; Jennifer Prescott; Ludmila Prokunina-Olsson; Mark P Purdue; You-Lin Qiao; Preetha Rajaraman; Francisco X Real; Elio Riboli; Harvey A Risch; Benjamin Rodriguez-Santiago; Avima M Ruder; Sharon A Savage; Fredrick Schumacher; Ann G Schwartz; Kendra L Schwartz; Adeline Seow; Veronica Wendy Setiawan; Gianluca Severi; Hongbing Shen; Xin Sheng; Min-Ho Shin; Xiao-Ou Shu; Debra T Silverman; Margaret R Spitz; Victoria L Stevens; Rachael Stolzenberg-Solomon; Daniel Stram; Ze-Zhong Tang; Philip R Taylor; Lauren R Teras; Geoffrey S Tobias; David Van Den Berg; Kala Visvanathan; Sholom Wacholder; Jiu-Cun Wang; Zhaoming Wang; Nicolas Wentzensen; William Wheeler; Emily White; John K Wiencke; Brian M Wolpin; Maria Pik Wong; Chen Wu; Tangchun Wu; Xifeng Wu; Yi-Long Wu; Jay S Wunder; Lucy Xia; Hannah P Yang; Pan-Chyr Yang; Kai Yu; Krista A Zanetti; Anne Zeleniuch-Jacquotte; Wei Zheng; Baosen Zhou; Regina G Ziegler; Luis A Perez-Jurado; Neil E Caporaso; Nathaniel Rothman; Margaret Tucker; Michael C Dean; Meredith Yeager; Stephen J Chanock
Journal:  Nat Commun       Date:  2016-06-13       Impact factor: 14.919

  6 in total

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