Literature DB >> 26503796

Protective alleles and modifier variants in human health and disease.

Andrew R Harper1, Shalini Nayee2, Eric J Topol3.   

Abstract

The combination of next-generation sequencing technologies and high-throughput genotyping platforms has revolutionized the pursuit of genetic variants that contribute towards disease. Furthermore, these technologies have provided invaluable insight into the genetic factors that prevent individuals from developing disease. Exploiting the evolutionary mechanisms that were designed by nature to help prevent disease is an attractive line of enquiry. Such efforts have the potential to generate a therapeutic target roadmap and rejuvenate the current drug-discovery pathway. By delineating the genomic factors that are protective against disease, there is potential to derive highly effective, genomically anchored medicines that assist in maintaining health.

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Year:  2015        PMID: 26503796     DOI: 10.1038/nrg4017

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  103 in total

1.  Chromothriptic cure of WHIM syndrome.

Authors:  David H McDermott; Ji-Liang Gao; Qian Liu; Marie Siwicki; Craig Martens; Paejonette Jacobs; Daniel Velez; Erin Yim; Christine R Bryke; Nancy Hsu; Zunyan Dai; Martha M Marquesen; Elina Stregevsky; Nana Kwatemaa; Narda Theobald; Debra A Long Priel; Stefania Pittaluga; Mark A Raffeld; Katherine R Calvo; Irina Maric; Ronan Desmond; Kevin L Holmes; Douglas B Kuhns; Karl Balabanian; Françoise Bachelerie; Stephen F Porcella; Harry L Malech; Philip M Murphy
Journal:  Cell       Date:  2015-02-05       Impact factor: 41.582

Review 2.  Genetic insights into common pathways and complex relationships among immune-mediated diseases.

Authors:  Miles Parkes; Adrian Cortes; David A van Heel; Matthew A Brown
Journal:  Nat Rev Genet       Date:  2013-08-06       Impact factor: 53.242

3.  Two doses of sclerostin antibody in cynomolgus monkeys increases bone formation, bone mineral density, and bone strength.

Authors:  Michael S Ominsky; Fay Vlasseros; Jacquelin Jolette; Susan Y Smith; Brian Stouch; George Doellgast; Jianhua Gong; Yongming Gao; Jin Cao; Kevin Graham; Barbara Tipton; Jill Cai; Rohini Deshpande; Lei Zhou; Michael D Hale; Daniel J Lightwood; Alistair J Henry; Andrew G Popplewell; Adrian R Moore; Martyn K Robinson; David L Lacey; W Scott Simonet; Chris Paszty
Journal:  J Bone Miner Res       Date:  2010-05       Impact factor: 6.741

4.  The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.

Authors:  Iryna Benilova; Rodrigo Gallardo; Andreea-Alexandra Ungureanu; Virginia Castillo Cano; An Snellinx; Meine Ramakers; Carmen Bartic; Frederic Rousseau; Joost Schymkowitz; Bart De Strooper
Journal:  J Biol Chem       Date:  2014-09-24       Impact factor: 5.157

5.  Medical research: Missing patients.

Authors:  Esteban G Burchard
Journal:  Nature       Date:  2014-09-18       Impact factor: 49.962

6.  Biopharmaceutical benchmarks 2014.

Authors:  Gary Walsh
Journal:  Nat Biotechnol       Date:  2014-10       Impact factor: 54.908

Review 7.  Somatic mosaicism: implications for disease and transmission genetics.

Authors:  Ian M Campbell; Chad A Shaw; Pawel Stankiewicz; James R Lupski
Journal:  Trends Genet       Date:  2015-04-21       Impact factor: 11.639

8.  Sclerostin antibody treatment increases bone formation, bone mass, and bone strength in a rat model of postmenopausal osteoporosis.

Authors:  Xiaodong Li; Michael S Ominsky; Kelly S Warmington; Sean Morony; Jianhua Gong; Jin Cao; Yongming Gao; Victoria Shalhoub; Barbara Tipton; Raj Haldankar; Qing Chen; Aaron Winters; Tom Boone; Zhaopo Geng; Qing-Tian Niu; Hua Zhu Ke; Paul J Kostenuik; W Scott Simonet; David L Lacey; Chris Paszty
Journal:  J Bone Miner Res       Date:  2009-04       Impact factor: 6.741

9.  Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV.

Authors:  Pablo Tebas; David Stein; Winson W Tang; Ian Frank; Shelley Q Wang; Gary Lee; S Kaye Spratt; Richard T Surosky; Martin A Giedlin; Geoff Nichol; Michael C Holmes; Philip D Gregory; Dale G Ando; Michael Kalos; Ronald G Collman; Gwendolyn Binder-Scholl; Gabriela Plesa; Wei-Ting Hwang; Bruce L Levine; Carl H June
Journal:  N Engl J Med       Date:  2014-03-06       Impact factor: 91.245

10.  Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Authors:  John D Reveille; Anne-Marie Sims; Patrick Danoy; David M Evans; Paul Leo; Jennifer J Pointon; Rui Jin; Xiaodong Zhou; Linda A Bradbury; Louise H Appleton; John C Davis; Laura Diekman; Tracey Doan; Alison Dowling; Ran Duan; Emma L Duncan; Claire Farrar; Johanna Hadler; David Harvey; Tugce Karaderi; Rebecca Mogg; Emma Pomeroy; Karena Pryce; Jacqueline Taylor; Laurie Savage; Panos Deloukas; Vasudev Kumanduri; Leena Peltonen; Sue M Ring; Pamela Whittaker; Evgeny Glazov; Gethin P Thomas; Walter P Maksymowych; Robert D Inman; Michael M Ward; Millicent A Stone; Michael H Weisman; B Paul Wordsworth; Matthew A Brown
Journal:  Nat Genet       Date:  2010-01-10       Impact factor: 38.330

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  43 in total

1.  The correlation between growth hormone receptor (GHR) polymorphism and obstructive sleep apnea syndrome among the Han and Hani population in China.

Authors:  Juanjuan Ji; Yunwei Yang; Yan Lin; Xudong Li; Xiaoguang Wu; Xi Yang; Ling Zhong; Ying Tang; Zhiyong Huang; Xiaoguang He
Journal:  Neurol Sci       Date:  2018-04-13       Impact factor: 3.307

Review 2.  From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.

Authors:  Jesse D Riordan; Joseph H Nadeau
Journal:  Am J Hum Genet       Date:  2017-08-03       Impact factor: 11.025

Review 3.  Precision reproductive medicine: multigene panel testing for infertility risk assessment.

Authors:  Stephen C Collins
Journal:  J Assist Reprod Genet       Date:  2017-05-03       Impact factor: 3.412

Review 4.  Network biology concepts in complex disease comorbidities.

Authors:  Jessica Xin Hu; Cecilia Engel Thomas; Søren Brunak
Journal:  Nat Rev Genet       Date:  2016-08-08       Impact factor: 53.242

5.  Heart disease: Putative medicines that mimic mutations.

Authors:  Sekar Kathiresan
Journal:  Nature       Date:  2017-08-23       Impact factor: 49.962

6.  Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.

Authors:  Anastasia Diamantopoulou; Ziyi Sun; Jun Mukai; Bin Xu; Karine Fenelon; Maria Karayiorgou; Joseph A Gogos
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-10       Impact factor: 11.205

Review 7.  Genetic Support for Longevity-Enhancing Drug Targets: Issues, Preliminary Data, and Future Directions.

Authors:  Jamison McCorrison; Thomas Girke; Laura H Goetz; Richard A Miller; Nicholas J Schork
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2019-11-13       Impact factor: 6.053

8.  Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.

Authors:  Elizabeth Blue; Tin L Louie; Jessica X Chong; Scott J Hebbring; Kathleen C Barnes; Nicholas M Rafaels; Michael R Knowles; Ronald L Gibson; Michael J Bamshad; Mary J Emond
Journal:  Ann Am Thorac Soc       Date:  2018-04

Review 9.  Genetics of age-related macular degeneration (AMD).

Authors:  Margaret M DeAngelis; Leah A Owen; Margaux A Morrison; Denise J Morgan; Mingyao Li; Akbar Shakoor; Albert Vitale; Sudha Iyengar; Dwight Stambolian; Ivana K Kim; Lindsay A Farrer
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

10.  Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Authors:  Simon Easteal; Ruth M Arkell; Renzo F Balboa; Shayne A Bellingham; Alex D Brown; Tom Calma; Matthew C Cook; Megan Davis; Hugh J S Dawkins; Marcel E Dinger; Michael S Dobbie; Ashley Farlow; Kylie G Gwynne; Azure Hermes; Wendy E Hoy; Misty R Jenkins; Simon H Jiang; Warren Kaplan; Stephen Leslie; Bastien Llamas; Graham J Mann; Brendan J McMorran; Rebekah E McWhirter; Cliff J Meldrum; Shivashankar H Nagaraj; Saul J Newman; Jack S Nunn; Lyndon Ormond-Parker; Neil J Orr; Devashi Paliwal; Hardip R Patel; Glenn Pearson; Greg R Pratt; Boe Rambaldini; Lynette W Russell; Ravi Savarirayan; Matthew Silcocks; John C Skinner; Yassine Souilmi; Carola G Vinuesa; Gareth Baynam
Journal:  Am J Hum Genet       Date:  2020-08-06       Impact factor: 11.025

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