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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 11, 2023. (Total: 223939Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Cystic Fibrosis and SLC6A14[original query]
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Nature genetics 2012 May 44 (5): 562-9.
Sun Lei, Rommens Johanna M, Corvol Harriet, Li Weili, Li Xin, Chiang Theodore A, Lin Fan, Dorfman Ruslan, Busson Pierre-François, Parekh Rashmi V, Zelenika Diana, Blackman Scott M, Corey Mary, Doshi Vishal K, Henderson Lindsay, Naughton Kathleen M, O'Neal Wanda K, Pace Rhonda G, Stonebraker Jaclyn R, Wood Sally D, Wright Fred A, Zielenski Julian, Clement Annick, Drumm Mitchell L, Boëlle Pierre-Yves, Cutting Garry R, Knowles Michael R, Durie Peter R, Strug Lisa
Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.
Human genetics 2014 Feb 133 (2): 151-61.
Li Weili, Soave David, Miller Melissa R, Keenan Katherine, Lin Fan, Gong Jiafen, Chiang Theodore, Stephenson Anne L, Durie Peter, Rommens Johanna, Sun Lei, Strug Lisa
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. GWAS Catalog
Nature communications 2015 Sep 6 8382.
Corvol Harriet, Blackman Scott M, Boëlle Pierre-Yves, Gallins Paul J, Pace Rhonda G, Stonebraker Jaclyn R, Accurso Frank J, Clement Annick, Collaco Joseph M, Dang Hong, Dang Anthony T, Franca Arianna, Gong Jiafen, Guillot Loic, Keenan Katherine, Li Weili, Lin Fan, Patrone Michael V, Raraigh Karen S, Sun Lei, Zhou Yi-Hui, O'Neal Wanda K, Sontag Marci K, Levy Hara, Durie Peter R, Rommens Johanna M, Drumm Mitchell L, Wright Fred A, Strug Lisa J, Cutting Garry R, Knowles Michael
Study of Three Single Nucleotide Polymorphisms in the SLC6A14 Gene in Association with Male Infertility.
Balkan journal of medical genetics : BJMG 2014 Dec 17 (2): 61-6.
Noveski P, Mircevska M, Plaseski T, Peterlin B, Plaseska-Karanfilska
Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3).
Gene 2017 7 629 117-126.
Pereira Stéphanie Villa-Nova, Ribeiro José Dirceu, Bertuzzo Carmen Sílvia, Marson Fernando Augusto Li
SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion.
eLife 2018 07 7 .
Ahmadi Saumel, Xia Sunny, Wu Yu-Sheng, Di Paola Michelle, Kissoon Randolph, Luk Catherine, Lin Fan, Du Kai, Rommens Johanna, Bear Christine
Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis.
Pediatric pulmonology 2018 4 53 (7): 888-900.
Pereira Stephanie V N, Ribeiro Jose D, Bertuzzo Carmen S, Marson Fernando A
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. GWAS Catalog
PLoS genetics 2019 02 15 (2): e1008007.
Gong Jiafen, Wang Fan, Xiao Bowei, Panjwani Naim, Lin Fan, Keenan Katherine, Avolio Julie, Esmaeili Mohsen, Zhang Lin, He Gengming, Soave David, Mastromatteo Scott, Baskurt Zeynep, Kim Sangook, O'Neal Wanda K, Polineni Deepika, Blackman Scott M, Corvol Harriet, Cutting Garry R, Drumm Mitchell, Knowles Michael R, Rommens Johanna M, Sun Lei, Strug Lisa
[SLC6A14, a modifier gene in cystic fibrosis].
Revue des maladies respiratoires 2020 3 37 (3): 218-221.
Ruffin M, Mercier J, Calmel C, Mésinèle J, Corvol H, Guillot
SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair Modulation.
Frontiers in molecular biosciences 2022 4 9 850261.
Mercier Julia, Calmel Claire, Mésinèle Julie, Sutanto Erika, Merabtene Fatiha, Longchampt Elisabeth, Sage Edouard, Kicic Anthony, Boëlle Pierre-Yves, Corvol Harriet, Ruffin Manon, Guillot Lo
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