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• {"link"=>{"url"=>"http://www.citeulike.org/user/hugogallardo/article/13315618"}, "post_time"=>"2014-08-04 18:13:51", "tag"=>"no-tag", "linkout"=>{"type"=>"DOI", "url"=>"http://dx.doi.org/10.1371/journal.pone.0090945"}, "username"=>"hugogallardo", "article_id"=>"13315618"}

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{"title"=>"The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients", "type"=>"journal", "authors"=>[{"first_name"=>"Celia N.", "last_name"=>"Sanchez-Dominguez", "scopus_author_id"=>"24729733900"}, {"first_name"=>"Miguel A.", "last_name"=>"Reyes-Lopez", "scopus_author_id"=>"36930207700"}, {"first_name"=>"Adriana", "last_name"=>"Bustamante", "scopus_author_id"=>"56089931800"}, {"first_name"=>"Ricardo M.", "last_name"=>"Cerda-Flores", "scopus_author_id"=>"55993709300"}, {"first_name"=>"Maria Del C.", "last_name"=>"Villalobos-Torres", "scopus_author_id"=>"55407601800"}, {"first_name"=>"Hugo L.", "last_name"=>"Gallardo-Blanco", "scopus_author_id"=>"55939011000"}, {"first_name"=>"Augusto", "last_name"=>"Rojas-Martinez", "scopus_author_id"=>"7004551916"}, {"first_name"=>"Herminia G.", "last_name"=>"Martinez-Rodriguez", "scopus_author_id"=>"55989689600"}, {"first_name"=>"Hugo A.", "last_name"=>"Barrera-Saldaña", "scopus_author_id"=>"7005781887"}, {"first_name"=>"Rocio", "last_name"=>"Ortiz-Lopez", "scopus_author_id"=>"55993772300"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"scopus"=>"2-s2.0-84897137114", "pmid"=>"24603877", "sgr"=>"84897137114", "doi"=>"10.1371/journal.pone.0090945", "issn"=>"19326203", "pui"=>"372725628"}, "id"=>"cb10a1af-d70e-3737-a24a-8023c6d11f40", "abstract"=>"UNLABELLED: Environmental and genetic factors may modify or contribute to the phenotypic differences observed in multigenic and monogenic diseases, such as cystic fibrosis (CF). An analysis of modifier genes can be helpful for estimating patient prognosis and directing preventive care. The aim of this study is to determine the association between seven genetic variants of four modifier genes and CF by comparing their corresponding allelic and genotypic frequencies in CF patients (n = 81) and control subjects (n = 104). Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (-251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP.\\n\\nRESULTS: The TNF2 allele (P = 0.012, OR 3.43, 95% CI 1.25-9.38) was significantly associated with CF under the dominant and additive models but was not associated with CF under the recessive model. This association remained statistically significant after adjusting for multiple tests using the Bonferroni correction (P = 0.0482). The other tested variants and genotypes did not show any association with the disease.\\n\\nCONCLUSION: An analysis of seven genetic variants of four modifier genes showed that one variant, the TNF2 allele, appears to be significantly associated with CF in Mexican patients.", "link"=>"http://www.mendeley.com/research/tumor-necrosis-factor-%CE%B1-308-ag-polymorphism-associated-cystic-fibrosis-mexican-patients", "reader_count"=>16, "reader_count_by_academic_status"=>{"Unspecified"=>4, "Professor > Associate Professor"=>1, "Researcher"=>1, "Student > Ph. D. Student"=>2, "Other"=>1, "Student > Master"=>1, "Student > Bachelor"=>4, "Professor"=>2}, "reader_count_by_user_role"=>{"Unspecified"=>4, "Professor > Associate Professor"=>1, "Researcher"=>1, "Student > Ph. D. Student"=>2, "Other"=>1, "Student > Master"=>1, "Student > Bachelor"=>4, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>6, "Agricultural and Biological Sciences"=>6, "Medicine and Dentistry"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>6}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>6}, "Unspecified"=>{"Unspecified"=>2}}, "reader_count_by_country"=>{"Brazil"=>1, "Mexico"=>3}, "group_count"=>1}

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• http://doi.org/10.1016/j.arcmed.2018.04.010
• http://doi.org/10.1016/j.ejmg.2018.11.018

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• {"files"=>["https://ndownloader.figshare.com/files/1410000"], "description"=>"<p>Mutations included in the kits used for the molecular diagnosis of CF patients.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Autosomal recessive", "cystic fibrosis", "Genetic association studies", "Genetic mutation", "Genetic screens", "Genetics of disease", "Molecular genetics", "genomics", "Genome analysis tools", "Clinical genetics", "genetic testing", "Diagnostic medicine", "Clinical laboratory sciences", "Test evaluation", "Pulmonology", "Pediatric pulmonology", "included", "kits", "molecular", "cf"], "article_id"=>953913, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Celia N. Sanchez-Dominguez", "Miguel A. Reyes-Lopez", "Adriana Bustamante", "Ricardo M. Cerda-Flores", "Maria del C. Villalobos-Torres", "Hugo L. Gallardo-Blanco", "Augusto Rojas-Martinez", "Herminia G. Martinez-Rodriguez", "Hugo A. Barrera-Saldaña", "Rocio Ortiz-Lopez"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0090945.t001", "stats"=>{"downloads"=>5, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Mutations_included_in_the_kits_used_for_the_molecular_diagnosis_of_CF_patients_/953913", "title"=>"Mutations included in the kits used for the molecular diagnosis of CF patients.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-03-06 03:38:43"}
• {"files"=>["https://ndownloader.figshare.com/files/1409998"], "description"=>"<p>X: unknown allele.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Autosomal recessive", "cystic fibrosis", "Genetic association studies", "Genetic mutation", "Genetic screens", "Genetics of disease", "Molecular genetics", "genomics", "Genome analysis tools", "Clinical genetics", "genetic testing", "Diagnostic medicine", "Clinical laboratory sciences", "Test evaluation", "Pulmonology", "Pediatric pulmonology", "genotype", "frequencies", "81", "mexican", "cf"], "article_id"=>953911, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Celia N. Sanchez-Dominguez", "Miguel A. Reyes-Lopez", "Adriana Bustamante", "Ricardo M. Cerda-Flores", "Maria del C. Villalobos-Torres", "Hugo L. Gallardo-Blanco", "Augusto Rojas-Martinez", "Herminia G. Martinez-Rodriguez", "Hugo A. Barrera-Saldaña", "Rocio Ortiz-Lopez"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0090945.t003", "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_CFTR_genotype_frequencies_from_81_Mexican_CF_patients_/953911", "title"=>"CFTR genotype frequencies from 81 Mexican CF patients.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-03-06 03:38:43"}
• {"files"=>["https://ndownloader.figshare.com/files/1409999"], "description"=>"<p>Modifier genes analysis by PCR-RFLP adapted from previously published techniques <a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0090945#pone.0090945-Sandford1\" target=\"_blank\">[21]</a>–<a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0090945#pone.0090945-Chen1\" target=\"_blank\">[24]</a>.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Autosomal recessive", "cystic fibrosis", "Genetic association studies", "Genetic mutation", "Genetic screens", "Genetics of disease", "Molecular genetics", "genomics", "Genome analysis tools", "Clinical genetics", "genetic testing", "Diagnostic medicine", "Clinical laboratory sciences", "Test evaluation", "Pulmonology", "Pediatric pulmonology", "genes", "pcr-rflp", "adapted", "published", "techniques"], "article_id"=>953912, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Celia N. Sanchez-Dominguez", "Miguel A. Reyes-Lopez", "Adriana Bustamante", "Ricardo M. Cerda-Flores", "Maria del C. Villalobos-Torres", "Hugo L. Gallardo-Blanco", "Augusto Rojas-Martinez", "Herminia G. Martinez-Rodriguez", "Hugo A. Barrera-Saldaña", "Rocio Ortiz-Lopez"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0090945.t002", "stats"=>{"downloads"=>7, "page_views"=>27, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Modifier_genes_analysis_by_PCR_RFLP_adapted_from_previously_published_techniques_21_24_/953912", "title"=>"Modifier genes analysis by PCR-RFLP adapted from previously published techniques [21]–[24].", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-03-06 03:38:43"}
• {"files"=>["https://ndownloader.figshare.com/files/1409997"], "description"=>"<p>1A: the 134 bp PCR product from exon 1 of the MBL1 gene was digested with <i>Mwo</i> I, <i>Ban</i> I and <i>Mbo</i> II for detection of polymorphisms in the 52, 54 and 57 codons. 1B: the 816 bp PCR product from promoter region of the IL-8 gene was digested with <i>Mfe</i> I for detection of the −251 polymorphism. 1C: the 142 bp PCR product from promoter region of the TNFα gene was digested with <i>Nco</i> I for detection of the −308 polymorphism (TNF2); the 98 bp PCR product from the SERPINA1 gene was digested with <i>Taq</i> I^α for detection of the S genetic variant; the 144 bp PCR product from the SERPINA1 gene was digested with <i>Taq</i> I^α enzyme for detection of the Z genetic variant. Mw1 is the molecular marker pBs+<i>Msp</i> I, Mw2 is the molecular marker λ+<i>Pst</i> I. P_MBL, P_IL8, P_TNF, P_AATS and P_AATZ are undigested PCR products. The Z allele was not detected.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Autosomal recessive", "cystic fibrosis", "Genetic association studies", "Genetic mutation", "Genetic screens", "Genetics of disease", "Molecular genetics", "genomics", "Genome analysis tools", "Clinical genetics", "genetic testing", "Diagnostic medicine", "Clinical laboratory sciences", "Test evaluation", "Pulmonology", "Pediatric pulmonology", "modifier", "genes"], "article_id"=>953910, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Celia N. Sanchez-Dominguez", "Miguel A. Reyes-Lopez", "Adriana Bustamante", "Ricardo M. Cerda-Flores", "Maria del C. Villalobos-Torres", "Hugo L. Gallardo-Blanco", "Augusto Rojas-Martinez", "Herminia G. Martinez-Rodriguez", "Hugo A. Barrera-Saldaña", "Rocio Ortiz-Lopez"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0090945.g001", "stats"=>{"downloads"=>0, "page_views"=>18, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_PCR_RFLP_for_the_modifier_genes_analysis_/953910", "title"=>"PCR-RFLP for the modifier genes analysis.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-03-06 03:38:43"}

PMC Usage Stats | Further Information

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Relative Metric

{"start_date"=>"2014-01-01T00:00:00Z", "end_date"=>"2014-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Medicine and health sciences", "average_usage"=>[285]}, {"subject_area"=>"/Medicine and health sciences/Diagnostic medicine", "average_usage"=>[257]}]}

F1000Prime