Literature DB >> 27340268

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

Ali J Marian1.   

Abstract

Entities:  

Keywords:  genetic testing; hypertrophic; introns; meiosis; mutation; variant

Mesh：

Year:  2016        PMID： 27340268      PMCID： PMC4922504          DOI： 10.1161/CIRCRESAHA.116.308830

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


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  22 in total

1.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

2.  Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Authors:  Nadine Norton; Duanxiang Li; Evadnie Rampersaud; Ana Morales; Eden R Martin; Stephan Zuchner; Shengru Guo; Michael Gonzalez; Dale J Hedges; Peggy D Robertson; Niklas Krumm; Deborah A Nickerson; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2013-02-15

3.  Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

Authors:  Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean Chambaz; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; Catherine Boileau
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

Review 4.  PCSK9: a key modulator of cardiovascular health.

Authors:  Nabil G Seidah; Zuhier Awan; Michel Chrétien; Majambu Mbikay
Journal:  Circ Res       Date:  2014-03-14       Impact factor: 17.367

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

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

Review 6.  Genetics of sudden cardiac death.

Authors:  Connie R Bezzina; Najim Lahrouchi; Silvia G Priori
Journal:  Circ Res       Date:  2015-06-05       Impact factor: 17.367

7.  The diploid genome sequence of an individual human.

Authors:  Samuel Levy; Granger Sutton; Pauline C Ng; Lars Feuk; Aaron L Halpern; Brian P Walenz; Nelson Axelrod; Jiaqi Huang; Ewen F Kirkness; Gennady Denisov; Yuan Lin; Jeffrey R MacDonald; Andy Wing Chun Pang; Mary Shago; Timothy B Stockwell; Alexia Tsiamouri; Vineet Bafna; Vikas Bansal; Saul A Kravitz; Dana A Busam; Karen Y Beeson; Tina C McIntosh; Karin A Remington; Josep F Abril; John Gill; Jon Borman; Yu-Hui Rogers; Marvin E Frazier; Stephen W Scherer; Robert L Strausberg; J Craig Venter
Journal:  PLoS Biol       Date:  2007-09-04       Impact factor: 8.029

Review 8.  Genetic advances in sarcomeric cardiomyopathies: state of the art.

Authors:  Carolyn Y Ho; Philippe Charron; Pascale Richard; Francesca Girolami; Karin Y Van Spaendonck-Zwarts; Yigal Pinto
Journal:  Cardiovasc Res       Date:  2015-01-29       Impact factor: 10.787

9.  Truncations of titin causing dilated cardiomyopathy.

Authors:  Daniel S Herman; Lien Lam; Matthew R G Taylor; Libin Wang; Polakit Teekakirikul; Danos Christodoulou; Lauren Conner; Steven R DePalma; Barbara McDonough; Elizabeth Sparks; Debbie Lin Teodorescu; Allison L Cirino; Nicholas R Banner; Dudley J Pennell; Sharon Graw; Marco Merlo; Andrea Di Lenarda; Gianfranco Sinagra; J Martijn Bos; Michael J Ackerman; Richard N Mitchell; Charles E Murry; Neal K Lakdawala; Carolyn Y Ho; Paul J R Barton; Stuart A Cook; Luisa Mestroni; J G Seidman; Christine E Seidman
Journal:  N Engl J Med       Date:  2012-02-16       Impact factor: 91.245

10.  Rate of de novo mutations and the importance of father's age to disease risk.

Authors:  Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962
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  9 in total

Review 1.  Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Authors:  Elizabeth M McNally; Luisa Mestroni
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

Review 2.  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 3.  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

4.  A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.

Authors:  Lili Li; Matthew Neil Bainbridge; Yanli Tan; James T Willerson; Ali J Marian
Journal:  Circ Res       Date:  2017-02-21       Impact factor: 17.367

Review 5.  From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies.

Authors:  Nosheen Reza; Kiran Musunuru; Anjali Tiku Owens
Journal:  Curr Heart Fail Rep       Date:  2019-10

Review 6.  Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Authors:  Jiangtao Li; Xin Feng; Xiang Wei
Journal:  Stem Cell Res Ther       Date:  2022-06-03       Impact factor: 8.079

7.  Molecular Genetic Basis of Hypertrophic Cardiomyopathy.

Authors:  A J Marian
Journal:  Circ Res       Date:  2021-05-13       Impact factor: 17.367

8.  Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Authors:  Jakub Piotr Fichna; Anna Macias; Marcin Piechota; Michał Korostyński; Anna Potulska-Chromik; Maria Jolanta Redowicz; Cezary Zekanowski
Journal:  Hum Genomics       Date:  2018-07-03       Impact factor: 4.639

9.  A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.

Authors:  Kathryn M Meurs; Brian G Williams; Dylan DeProspero; Steven G Friedenberg; David E Malarkey; J Ashley Ezzell; Bruce W Keene; Darcy B Adin; Teresa C DeFrancesco; Sandra Tou
Journal:  Orphanet J Rare Dis       Date:  2021-02-27       Impact factor: 4.123
  9 in total

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