Literature DB >> 20650817

Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes.

David N Cooper.   

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Year:  2010        PMID： 20650817      PMCID： PMC3500160          DOI： 10.1186/1479-7364-4-5-284

Source DB:  PubMed          Journal:  Hum Genomics        ISSN： 1473-9542            Impact factor:   4.639


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  23 in total

Review 1.  Splicing fidelity, enhancers, and disease.

Authors:  Amanda S Solis; Nikki Shariat; James G Patton
Journal:  Front Biosci       Date:  2008-01-01

2.  T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

Authors:  Rikke H Lewinsky; Tine G K Jensen; Jette Møller; Allan Stensballe; Jørgen Olsen; Jesper T Troelsen
Journal:  Hum Mol Genet       Date:  2005-11-21       Impact factor: 6.150

3.  Identification of a variant associated with adult-type hypolactasia.

Authors:  Nabil Sabri Enattah; Timo Sahi; Erkki Savilahti; Joseph D Terwilliger; Leena Peltonen; Irma Järvelä
Journal:  Nat Genet       Date:  2002-01-14       Impact factor: 38.330

4.  Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Authors:  Michael Krawczak; Nick S T Thomas; Bernd Hundrieser; Matthew Mort; Michael Wittig; Jochen Hampe; David N Cooper
Journal:  Hum Mutat       Date:  2007-02       Impact factor: 4.878

5.  Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.

Authors:  Anja Ragvin; Enrico Moro; David Fredman; Pavla Navratilova; Øyvind Drivenes; Pär G Engström; M Eva Alonso; Elisa de la Calle Mustienes; José Luis Gómez Skarmeta; Maria J Tavares; Fernando Casares; Miguel Manzanares; Veronica van Heyningen; Anders Molven; Pål R Njølstad; Francesco Argenton; Boris Lenhard; Thomas S Becker
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-22       Impact factor: 11.205

6.  Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

Authors:  Lynne C Olds; Eric Sibley
Journal:  Hum Mol Genet       Date:  2003-07-22       Impact factor: 6.150

7.  Genome-wide analysis of transcript isoform variation in humans.

Authors:  Tony Kwan; David Benovoy; Christel Dias; Scott Gurd; Cathy Provencher; Patrick Beaulieu; Thomas J Hudson; Rob Sladek; Jacek Majewski
Journal:  Nat Genet       Date:  2008-01-13       Impact factor: 38.330

8.  Human genetic variation recognizes functional elements in noncoding sequence.

Authors:  David Lomelin; Eric Jorgenson; Neil Risch
Journal:  Genome Res       Date:  2009-12-23       Impact factor: 9.043

9.  Genetic variation at the FTO locus influences RBL2 gene expression.

Authors:  Jeremy B M Jowett; Joanne E Curran; Matthew P Johnson; Melanie A Carless; Harald H H Göring; Thomas D Dyer; Shelley A Cole; Anthony G Comuzzie; Jean W MacCluer; Eric K Moses; John Blangero
Journal:  Diabetes       Date:  2009-12-15       Impact factor: 9.461

10.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117
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  75 in total

1.  Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Authors:  Emmi Helle; Aldo Córdova-Palomera; Tiina Ojala; Priyanka Saha; Praneetha Potiny; Stefan Gustafsson; Erik Ingelsson; Michael Bamshad; Deborah Nickerson; Jessica X Chong; Euan Ashley; James R Priest
Journal:  Genet Epidemiol       Date:  2018-12-04       Impact factor: 2.135

2.  RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression.

Authors:  Emilie Lalonde; Kevin C H Ha; Zibo Wang; Amandine Bemmo; Claudia L Kleinman; Tony Kwan; Tomi Pastinen; Jacek Majewski
Journal:  Genome Res       Date:  2010-12-20       Impact factor: 9.043

3.  Higher circulating levels of chemokine CCL22 in patients with breast cancer: evaluation of the influences of tumor stage and chemokine gene polymorphism.

Authors:  A Jafarzadeh; H Fooladseresht; K Minaee; M R Bazrafshani; A Khosravimashizi; M Nemati; M Mohammadizadeh; M M Mohammadi; A Ghaderi
Journal:  Tumour Biol       Date:  2014-10-22

4.  Analysis of allele-specific expression in mouse liver by RNA-Seq: a comparison with Cis-eQTL identified using genetic linkage.

Authors:  Sandrine Lagarrigue; Lisa Martin; Farhad Hormozdiari; Pierre-François Roux; Calvin Pan; Atila van Nas; Olivier Demeure; Rita Cantor; Anatole Ghazalpour; Eleazar Eskin; Aldons J Lusis
Journal:  Genetics       Date:  2013-09-11       Impact factor: 4.562

5.  Fluticasone propionate pharmacogenetics: CYP3A4*22 polymorphism and pediatric asthma control.

Authors:  Chris Stockmann; Bernhard Fassl; Roger Gaedigk; Flory Nkoy; Derek A Uchida; Steven Monson; Christopher A Reilly; J Steven Leeder; Garold S Yost; Robert M Ward
Journal:  J Pediatr       Date:  2013-01-03       Impact factor: 4.406

6.  Selected single-nucleotide polymorphisms in FOXE1, SERPINA5, FTO, EVPL, TICAM1 and SCARB1 are associated with papillary and follicular thyroid cancer risk: replication study in a German population.

Authors:  Alice J Sigurdson; Alina V Brenner; James A Roach; Lilia Goudeva; Jörg A Müller; Kai Nerlich; Christoph Reiners; Robert Schwab; Liliane Pfeiffer; Melanie Waldenberger; Melissa Braganza; Li Xu; Erich M Sturgis; Meredith Yeager; Stephen J Chanock; Ruth M Pfeiffer; Michael Abend; Matthias Port
Journal:  Carcinogenesis       Date:  2016-04-28       Impact factor: 4.944

7.  Non-coding Single Nucleotide Variants of Renin and the (Pro)renin Receptor are Associated with Polygenic Diseases in a Bangladeshi Population.

Authors:  Jobaida Akther; Ashish Das; Md Arifur Rahman; Sajoy Kanti Saha; Md Ismail Hosen; Akio Ebihara; Tsutomu Nakagawa; Fumiaki Suzuki; A H M Nurun Nabi
Journal:  Biochem Genet       Date:  2021-03-07       Impact factor: 1.890

Review 8.  Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review.

Authors:  Farzeen Kader; Meenu Ghai; Ademola O Olaniran
Journal:  Int J Legal Med       Date:  2019-11-12       Impact factor: 2.686

9.  Genetic correlates of the development of theta event related oscillations in adolescents and young adults.

Authors:  David B Chorlian; Madhavi Rangaswamy; Niklas Manz; Jacquelyn L Meyers; Sun J Kang; Chella Kamarajan; Ashwini K Pandey; Jen-Chyong Wang; Leah Wetherill; Howard Edenberg; Bernice Porjesz
Journal:  Int J Psychophysiol       Date:  2016-11-12       Impact factor: 2.997

10.  Variants in the interleukin-1 alpha and beta genes, and the risk for periodontal disease in dogs.

Authors:  C Albuquerque; F Morinha; J Magalhães; J Requicha; I Dias; H Guedes-Pinto; E Bastos; C Viegas
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166
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