Literature DB >> 24833372

The hunt for missing genes.

Jocelyn Kaiser.   

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Year:  2014        PMID: 24833372     DOI: 10.1126/science.344.6185.687

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


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  12 in total

Review 1.  Protective alleles and modifier variants in human health and disease.

Authors:  Andrew R Harper; Shalini Nayee; Eric J Topol
Journal:  Nat Rev Genet       Date:  2015-10-27       Impact factor: 53.242

Review 2.  Emerging links between type 2 diabetes and Alzheimer's disease.

Authors:  Gumpeny R Sridhar; Gumpeny Lakshmi; Gumpeny Nagamani
Journal:  World J Diabetes       Date:  2015-06-10

3.  Therapeutic oligonucleotides in cardiovascular and metabolic diseases: insights for the internist.

Authors:  Domenico Girelli; Fabiana Busti; Giacomo Marchi; Nicola Martinelli; Oliviero Olivieri
Journal:  Intern Emerg Med       Date:  2018-03-01       Impact factor: 3.397

4.  Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Authors:  Solaf M Elsayed; Jennifer B Phillips; Raoul Heller; Michaela Thoenes; Ezzat Elsobky; Gudrun Nürnberg; Peter Nürnberg; Saskia Seland; Inga Ebermann; Janine Altmüller; Holger Thiele; Mohammad Toliat; Friederike Körber; Xue-Jia Hu; Yun-Dong Wu; Maha S Zaki; Ghada Abdel-Salam; Joseph Gleeson; Eugen Boltshauser; Monte Westerfield; Hanno J Bolz
Journal:  Hum Mol Genet       Date:  2015-01-23       Impact factor: 6.150

Review 5.  Loss of gene function and evolution of human phenotypes.

Authors:  Hye Ji Oh; Dongjin Choi; Chul Jun Goh; Yoonsoo Hahn
Journal:  BMB Rep       Date:  2015-07       Impact factor: 4.778

Review 6.  Single nucleotide variations: biological impact and theoretical interpretation.

Authors:  Panagiotis Katsonis; Amanda Koire; Stephen Joseph Wilson; Teng-Kuei Hsu; Rhonald C Lua; Angela Dawn Wilkins; Olivier Lichtarge
Journal:  Protein Sci       Date:  2014-10-20       Impact factor: 6.725

7.  Genetics and genomic medicine in Saudi Arabia.

Authors:  Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2014-07-30       Impact factor: 2.183

8.  NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock.

Authors:  Carole Charlier; Wanbo Li; Chad Harland; Mathew Littlejohn; Wouter Coppieters; Frances Creagh; Steve Davis; Tom Druet; Pierre Faux; François Guillaume; Latifa Karim; Mike Keehan; Naveen Kumar Kadri; Nico Tamma; Richard Spelman; Michel Georges
Journal:  Genome Res       Date:  2016-09-19       Impact factor: 9.043

9.  A tale of two sisters: identical IL36RN mutations and discordant phenotypes.

Authors:  N Rajan; N Sinclair; H Nakai; Y Shimomura; S Natarajan
Journal:  Br J Dermatol       Date:  2015-11-25       Impact factor: 9.302

10.  Evolutionary rescue by compensatory mutations is constrained by genomic and environmental backgrounds.

Authors:  Marie Filteau; Véronique Hamel; Marie-Christine Pouliot; Isabelle Gagnon-Arsenault; Alexandre K Dubé; Christian R Landry
Journal:  Mol Syst Biol       Date:  2015-10-12       Impact factor: 11.429

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