Literature DB >> 26957571

Genetic mutations you want.

Sarah C P Williams.   

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Year:  2016        PMID: 26957571      PMCID: PMC4791022          DOI: 10.1073/pnas.1601663113

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


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  16 in total

Review 1.  Genetic studies reveal the role of the endocrine and metabolic systems in aging.

Authors:  Nir Barzilai; Ilan Gabriely; Gil Atzmon; Yousin Suh; Devorah Rothenberg; Aviv Bergman
Journal:  J Clin Endocrinol Metab       Date:  2010-10       Impact factor: 5.958

2.  Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Authors:  Jennifer J Johnston; Katie L Lewis; David Ng; Larry N Singh; Jamila Wynter; Carmen Brewer; Brian P Brooks; Isaac Brownell; Fabio Candotti; Steven G Gonsalves; Suzanne P Hart; Heidi H Kong; Kristina I Rother; Robert Sokolic; Benjamin D Solomon; Wadih M Zein; David N Cooper; Peter D Stenson; James C Mullikin; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2015-06-04       Impact factor: 11.025

3.  Large-scale whole-genome sequencing of the Icelandic population.

Authors:  Daniel F Gudbjartsson; Hannes Helgason; Sigurjon A Gudjonsson; Florian Zink; Asmundur Oddson; Arnaldur Gylfason; Soren Besenbacher; Gisli Magnusson; Bjarni V Halldorsson; Eirikur Hjartarson; Gunnar Th Sigurdsson; Simon N Stacey; Michael L Frigge; Hilma Holm; Jona Saemundsdottir; Hafdis Th Helgadottir; Hrefna Johannsdottir; Gunnlaugur Sigfusson; Gudmundur Thorgeirsson; Jon Th Sverrisson; Solveig Gretarsdottir; G Bragi Walters; Thorunn Rafnar; Bjarni Thjodleifsson; Einar S Bjornsson; Sigurdur Olafsson; Hildur Thorarinsdottir; Thora Steingrimsdottir; Thora S Gudmundsdottir; Asgeir Theodors; Jon G Jonasson; Asgeir Sigurdsson; Gyda Bjornsdottir; Jon J Jonsson; Olafur Thorarensen; Petur Ludvigsson; Hakon Gudbjartsson; Gudmundur I Eyjolfsson; Olof Sigurdardottir; Isleifur Olafsson; David O Arnar; Olafur Th Magnusson; Augustine Kong; Gisli Masson; Unnur Thorsteinsdottir; Agnar Helgason; Patrick Sulem; Kari Stefansson
Journal:  Nat Genet       Date:  2015-03-25       Impact factor: 38.330

4.  Cholesteryl ester transfer protein (CETP) genotype and reduced CETP levels associated with decreased prevalence of hypertension.

Authors:  Clyde B Schechter; Nir Barzilai; Jill P Crandall; Gil Atzmon
Journal:  Mayo Clin Proc       Date:  2010-06       Impact factor: 7.616

5.  Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

Authors:  Jason Flannick; Gudmar Thorleifsson; Nicola L Beer; Suzanne B R Jacobs; Niels Grarup; Noël P Burtt; Anubha Mahajan; Christian Fuchsberger; Gil Atzmon; Rafn Benediktsson; John Blangero; Don W Bowden; Ivan Brandslund; Julia Brosnan; Frank Burslem; John Chambers; Yoon Shin Cho; Cramer Christensen; Desirée A Douglas; Ravindranath Duggirala; Zachary Dymek; Yossi Farjoun; Timothy Fennell; Pierre Fontanillas; Tom Forsén; Stacey Gabriel; Benjamin Glaser; Daniel F Gudbjartsson; Craig Hanis; Torben Hansen; Astradur B Hreidarsson; Kristian Hveem; Erik Ingelsson; Bo Isomaa; Stefan Johansson; Torben Jørgensen; Marit Eika Jørgensen; Sekar Kathiresan; Augustine Kong; Jaspal Kooner; Jasmina Kravic; Markku Laakso; Jong-Young Lee; Lars Lind; Cecilia M Lindgren; Allan Linneberg; Gisli Masson; Thomas Meitinger; Karen L Mohlke; Anders Molven; Andrew P Morris; Shobha Potluri; Rainer Rauramaa; Rasmus Ribel-Madsen; Ann-Marie Richard; Tim Rolph; Veikko Salomaa; Ayellet V Segrè; Hanna Skärstrand; Valgerdur Steinthorsdottir; Heather M Stringham; Patrick Sulem; E Shyong Tai; Yik Ying Teo; Tanya Teslovich; Unnur Thorsteinsdottir; Jeff K Trimmer; Tiinamaija Tuomi; Jaakko Tuomilehto; Fariba Vaziri-Sani; Benjamin F Voight; James G Wilson; Michael Boehnke; Mark I McCarthy; Pål R Njølstad; Oluf Pedersen; Leif Groop; David R Cox; Kari Stefansson; David Altshuler
Journal:  Nat Genet       Date:  2014-03-02       Impact factor: 38.330

6.  A novel protective prion protein variant that colocalizes with kuru exposure.

Authors:  Simon Mead; Jerome Whitfield; Mark Poulter; Paresh Shah; James Uphill; Tracy Campbell; Huda Al-Dujaily; Holger Hummerich; Jon Beck; Charles A Mein; Claudio Verzilli; John Whittaker; Michael P Alpers; John Collinge
Journal:  N Engl J Med       Date:  2009-11-19       Impact factor: 91.245

7.  Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection.

Authors:  Marceline Côté; John Misasi; Tao Ren; Anna Bruchez; Kyungae Lee; Claire Marie Filone; Lisa Hensley; Qi Li; Daniel Ory; Kartik Chandran; James Cunningham
Journal:  Nature       Date:  2011-08-24       Impact factor: 49.962

8.  Disease variants in genomes of 44 centenarians.

Authors:  Yun Freudenberg-Hua; Jan Freudenberg; Vladimir Vacic; Avinash Abhyankar; Anne-Katrin Emde; Danny Ben-Avraham; Nir Barzilai; Dayna Oschwald; Erika Christen; Jeremy Koppel; Blaine Greenwald; Robert B Darnell; Soren Germer; Gil Atzmon; Peter Davies
Journal:  Mol Genet Genomic Med       Date:  2014-06-15       Impact factor: 2.183

9.  Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Authors:  Nathan O Stitziel; Hong-Hee Won; Alanna C Morrison; Gina M Peloso; Ron Do; Leslie A Lange; Pierre Fontanillas; Namrata Gupta; Stefano Duga; Anuj Goel; Martin Farrall; Danish Saleheen; Paola Ferrario; Inke König; Rosanna Asselta; Piera A Merlini; Nicola Marziliano; Maria Francesca Notarangelo; Ursula Schick; Paul Auer; Themistocles L Assimes; Muredach Reilly; Robert Wilensky; Daniel J Rader; G Kees Hovingh; Thomas Meitinger; Thorsten Kessler; Adnan Kastrati; Karl-Ludwig Laugwitz; David Siscovick; Jerome I Rotter; Stanely L Hazen; Russell Tracy; Sharon Cresci; John Spertus; Rebecca Jackson; Stephen M Schwartz; Pradeep Natarajan; Jacy Crosby; Donna Muzny; Christie Ballantyne; Stephen S Rich; Christopher J O'Donnell; Goncalo Abecasis; Shamil Sunaev; Deborah A Nickerson; Julie E Buring; Paul M Ridker; Daniel I Chasman; Erin Austin; Iftikhar J Kullo; Peter E Weeke; Christian M Shaffer; Lisa A Bastarache; Joshua C Denny; Dan M Roden; Colin Palmer; Panos Deloukas; Dan-Yu Lin; Zheng-zheng Tang; Jeanette Erdmann; Heribert Schunkert; John Danesh; Jaume Marrugat; Roberto Elosua; Diego Ardissino; Ruth McPherson; Hugh Watkins; Alex P Reiner; James G Wilson; David Altshuler; Richard A Gibbs; Eric S Lander; Eric Boerwinkle; Stacey Gabriel; Sekar Kathiresan
Journal:  N Engl J Med       Date:  2014-11-12       Impact factor: 91.245

10.  A novel locus of resistance to severe malaria in a region of ancient balancing selection.

Authors:  Gavin Band; Kirk A Rockett; Chris C A Spencer; Dominic P Kwiatkowski
Journal:  Nature       Date:  2015-09-30       Impact factor: 49.962

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  4 in total

1.  Polymorphism of fecundity genes (BMP15 and GDF9) and their association with litter size in Bangladeshi prolific Black Bengal goat.

Authors:  Ashutosh Das; Mishuk Shaha; Mukta Das Gupta; Avijit Dutta; Omar Faruk Miazi
Journal:  Trop Anim Health Prod       Date:  2021-03-26       Impact factor: 1.559

Review 2.  Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns.

Authors:  Robert Brommage; David R Powell; Peter Vogel
Journal:  Dis Model Mech       Date:  2019-05-07       Impact factor: 5.758

3.  Informing Prevention and Intervention Policy Using Genetic Studies of Resistance.

Authors:  Brion S Maher; Shawn Latendresse; Michael M Vanyukov
Journal:  Prev Sci       Date:  2018-01

4.  Evaluating the relationship between lesion burden and aging among the skeletons of an 18th-19th century London cemetery using osteological and radiological analysis.

Authors:  Katherine van Schaik; Ronald Eisenberg; Jelena Bekvalac; Frank Rühli
Journal:  PLoS One       Date:  2018-04-26       Impact factor: 3.240

  4 in total

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