Literature DB >> 24436434

Causality in genetics: the gradient of genetic effects and back to Koch's postulates of causality.

Ali J Marian1.   

Abstract

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Year:  2014        PMID： 24436434      PMCID： PMC3896867          DOI： 10.1161/CIRCRESAHA.114.302904

Source DB:  PubMed          Journal:  Circ Res        ISSN： 0009-7330            Impact factor:   17.367


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  28 in total

1.  Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

Authors:  Connie R Bezzina; Martin B Rook; W Antoinette Groenewegen; Lucas J Herfst; Allard C van der Wal; Jan Lam; Habo J Jongsma; Arthur A M Wilde; Marcel M A M Mannens
Journal:  Circ Res       Date:  2003-02-07       Impact factor: 17.367

2.  On Koch's postulates, causality and genetics of cardiomyopathies.

Authors:  A J Marian; R Roberts
Journal:  J Mol Cell Cardiol       Date:  2002-08       Impact factor: 5.000

3.  Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Authors:  Francesca Girolami; Carolyn Y Ho; Christopher Semsarian; Massimo Baldi; Melissa L Will; Katia Baldini; Francesca Torricelli; Laura Yeates; Franco Cecchi; Michael J Ackerman; Iacopo Olivotto
Journal:  J Am Coll Cardiol       Date:  2010-04-06       Impact factor: 24.094

4.  Identification of functional elements and regulatory circuits by Drosophila modENCODE.

Authors:  Sushmita Roy; Jason Ernst; Peter V Kharchenko; Pouya Kheradpour; Nicolas Negre; Matthew L Eaton; Jane M Landolin; Christopher A Bristow; Lijia Ma; Michael F Lin; Stefan Washietl; Bradley I Arshinoff; Ferhat Ay; Patrick E Meyer; Nicolas Robine; Nicole L Washington; Luisa Di Stefano; Eugene Berezikov; Christopher D Brown; Rogerio Candeias; Joseph W Carlson; Adrian Carr; Irwin Jungreis; Daniel Marbach; Rachel Sealfon; Michael Y Tolstorukov; Sebastian Will; Artyom A Alekseyenko; Carlo Artieri; Benjamin W Booth; Angela N Brooks; Qi Dai; Carrie A Davis; Michael O Duff; Xin Feng; Andrey A Gorchakov; Tingting Gu; Jorja G Henikoff; Philipp Kapranov; Renhua Li; Heather K MacAlpine; John Malone; Aki Minoda; Jared Nordman; Katsutomo Okamura; Marc Perry; Sara K Powell; Nicole C Riddle; Akiko Sakai; Anastasia Samsonova; Jeremy E Sandler; Yuri B Schwartz; Noa Sher; Rebecca Spokony; David Sturgill; Marijke van Baren; Kenneth H Wan; Li Yang; Charles Yu; Elise Feingold; Peter Good; Mark Guyer; Rebecca Lowdon; Kami Ahmad; Justen Andrews; Bonnie Berger; Steven E Brenner; Michael R Brent; Lucy Cherbas; Sarah C R Elgin; Thomas R Gingeras; Robert Grossman; Roger A Hoskins; Thomas C Kaufman; William Kent; Mitzi I Kuroda; Terry Orr-Weaver; Norbert Perrimon; Vincenzo Pirrotta; James W Posakony; Bing Ren; Steven Russell; Peter Cherbas; Brenton R Graveley; Suzanna Lewis; Gos Micklem; Brian Oliver; Peter J Park; Susan E Celniker; Steven Henikoff; Gary H Karpen; Eric C Lai; David M MacAlpine; Lincoln D Stein; Kevin P White; Manolis Kellis
Journal:  Science       Date:  2010-12-22       Impact factor: 47.728

5.  Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Authors:  Tianhong Xu; Zhao Yang; Matteo Vatta; Alessandra Rampazzo; Giorgia Beffagna; Kalliopi Pilichou; Kalliopi Pillichou; Steven E Scherer; Jeffrey Saffitz; Joshua Kravitz; Wojciech Zareba; Gian Antonio Danieli; Alessandra Lorenzon; Andrea Nava; Barbara Bauce; Gaetano Thiene; Cristina Basso; Hugh Calkins; Kathy Gear; Frank Marcus; Jeffrey A Towbin
Journal:  J Am Coll Cardiol       Date:  2010-02-09       Impact factor: 24.094

6.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

7.  Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Authors:  Rafal Ploski; Agnieszka Pollak; Sonja Müller; Maria Franaszczyk; Ewa Michalak; Joanna Kosinska; Piotr Stawinski; Mateusz Spiewak; Hubert Seggewiss; Zofia T Bilinska
Journal:  Circ Res       Date:  2014-01-17       Impact factor: 17.367

8.  Compound mutations: a common cause of severe long-QT syndrome.

Authors:  Peter Westenskow; Igor Splawski; Katherine W Timothy; Mark T Keating; Michael C Sanguinetti
Journal:  Circulation       Date:  2004-03-29       Impact factor: 29.690

9.  Genes mirror geography within Europe.

Authors:  John Novembre; Toby Johnson; Katarzyna Bryc; Zoltán Kutalik; Adam R Boyko; Adam Auton; Amit Indap; Karen S King; Sven Bergmann; Matthew R Nelson; Matthew Stephens; Carlos D Bustamante
Journal:  Nature       Date:  2008-08-31       Impact factor: 49.962

10.  Nature's genetic gradients and the clinical phenotype.

Authors:  Ali J Marian
Journal:  Circ Cardiovasc Genet       Date:  2009-12
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  15 in total

Review 1.  Personalized Therapy of Hypertension: the Past and the Future.

Authors:  Paolo Manunta; Mara Ferrandi; Daniele Cusi; Patrizia Ferrari; Jan Staessen; Giuseppe Bianchi
Journal:  Curr Hypertens Rep       Date:  2016-03       Impact factor: 5.369

Review 2.  Epigenetic reprogramming of immune cells in injury, repair, and resolution.

Authors:  Katarzyna Placek; Joachim L Schultze; Anna C Aschenbrenner
Journal:  J Clin Invest       Date:  2019-07-22       Impact factor: 14.808

Review 3.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

Review 4.  Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.

Authors:  Ali J Marian; Eva van Rooij; Robert Roberts
Journal:  J Am Coll Cardiol       Date:  2016-12-27       Impact factor: 24.094

5.  The Bottleneck in Genetic Testing.

Authors:  Ali J Marian
Journal:  Circ Res       Date:  2015-09-11       Impact factor: 17.367

Review 6.  The Case of "Missing Causal Genes" and the Practice of Medicine: A Sherlock Holmes Approach of Deductive Reasoning.

Authors:  Ali J Marian
Journal:  Circ Res       Date:  2016-06-24       Impact factor: 17.367

Review 7.  The promise and perils of causal circuit manipulations.

Authors:  Steffen Be Wolff; Bence P Ölveczky
Journal:  Curr Opin Neurobiol       Date:  2018-02-04       Impact factor: 6.627

Review 8.  Clinical applications of molecular genetic discoveries.

Authors:  Ali J Marian
Journal:  Transl Res       Date:  2015-10-24       Impact factor: 7.012

9.  Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Authors:  Timothy Gall; Elise Valkanas; Christofer Bello; Thomas Markello; Christopher Adams; William P Bone; Alexander J Brandt; Jennifer M Brazill; Lynn Carmichael; Mariska Davids; Joie Davis; Zoraida Diaz-Perez; David Draper; Jeremy Elson; Elise D Flynn; Rena Godfrey; Catherine Groden; Cheng-Kang Hsieh; Roxanne Fischer; Gretchen A Golas; Jessica Guzman; Yan Huang; Megan S Kane; Elizabeth Lee; Chong Li; Amanda E Links; Valerie Maduro; May Christine V Malicdan; Fayeza S Malik; Michele Nehrebecky; Joun Park; Paul Pemberton; Katherine Schaffer; Dimitre Simeonov; Murat Sincan; Damian Smedley; Zaheer Valivullah; Colleen Wahl; Nicole Washington; Lynne A Wolfe; Karen Xu; Yi Zhu; William A Gahl; Cynthia J Tifft; Camillo Toro; David R Adams; Miao He; Peter N Robinson; Melissa A Haendel; R Grace Zhai; Cornelius F Boerkoel
Journal:  Front Med (Lausanne)       Date:  2017-05-26

10.  The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

Authors:  Maria Franaszczyk; Zofia T Bilinska; Małgorzata Sobieszczańska-Małek; Ewa Michalak; Justyna Sleszycka; Agnieszka Sioma; Łukasz A Małek; Dorota Kaczmarska; Ewa Walczak; Paweł Włodarski; Łukasz Hutnik; Blanka Milanowska; Zofia Dzielinska; Grzegorz Religa; Jacek Grzybowski; Tomasz Zieliński; Rafal Ploski
Journal:  J Transl Med       Date:  2014-07-09       Impact factor: 5.531
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