New NR5A1 mutations and phenotypic variations of gonadal dysgenesis
Publication Date
May 01, 2017
Authors
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, et al
Volume
12
Issue
5
Pages
e0176720
DOI
https://dx.plos.org/10.1371/journal.pone.0176720
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0176720
Scopus
85018989848
Mendeley
http://www.mendeley.com/research/new-nr5a1-mutations-phenotypic-variations-gonadal-dysgenesis
Events
Loading … Spinner

Mendeley | Further Information

{"title"=>"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis", "type"=>"journal", "authors"=>[{"first_name"=>"Ralf", "last_name"=>"Werner", "scopus_author_id"=>"7202442526"}, {"first_name"=>"Isabel", "last_name"=>"Mönig", "scopus_author_id"=>"57006675700"}, {"first_name"=>"Ralf", "last_name"=>"Lünstedt", "scopus_author_id"=>"57006791700"}, {"first_name"=>"Lutz", "last_name"=>"Wünsch", "scopus_author_id"=>"6603961748"}, {"first_name"=>"Christoph", "last_name"=>"Thorns", "scopus_author_id"=>"36853214800"}, {"first_name"=>"Benedikt", "last_name"=>"Reiz", "scopus_author_id"=>"55883872300"}, {"first_name"=>"Alexandra", "last_name"=>"Krause", "scopus_author_id"=>"7202718962"}, {"first_name"=>"Karl Otfried", "last_name"=>"Schwab", "scopus_author_id"=>"7005193067"}, {"first_name"=>"Gerhard", "last_name"=>"Binder", "scopus_author_id"=>"55162618400"}, {"first_name"=>"Paul Martin", "last_name"=>"Holterhus", "scopus_author_id"=>"56550251100"}, {"first_name"=>"Olaf", "last_name"=>"Hiort", "scopus_author_id"=>"7005258062"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"doi"=>"10.1371/journal.pone.0176720", "pui"=>"615804205", "scopus"=>"2-s2.0-85018989848", "issn"=>"19326203", "sgr"=>"85018989848", "isbn"=>"1111111111"}, "id"=>"b1c5a664-f101-390b-93ca-e9de243ac8df", "abstract"=>"© 2017 Werner et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Mutations in NR5A1 have been reported as a frequent cause of 46, XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46, XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p. 18 DKVSG 22 del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs∗83 frameshift mutation. Functional analysis of the missense and nonframeshift mutation revealed a deleterious character with loss of DNA-binding and transactivation capacity. Both, the mutations in the DNA-binding domain, as well as the familiar frameshift mutation are associated with highly variable endocrine values and phenotypic appearance. Phenotypes vary from males with spontaneous puberty, substantial testosterone production and possible fertility to females with and without Müllerian structures and primary amenorrhea. Exome sequencing of the sibling's family revealed TBX2 as a possible modifier of gonadal development in patients with NR5A1 mutations.", "link"=>"http://www.mendeley.com/research/new-nr5a1-mutations-phenotypic-variations-gonadal-dysgenesis", "reader_count"=>6, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Student > Doctoral Student"=>1, "Researcher"=>2, "Student > Bachelor"=>1, "Unspecified"=>1}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Student > Doctoral Student"=>1, "Researcher"=>2, "Student > Bachelor"=>1, "Unspecified"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>3, "Medicine and Dentistry"=>2, "Agricultural and Biological Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>1}, "Unspecified"=>{"Unspecified"=>3}}, "group_count"=>0}

Scopus | Further Information

{"@_fa"=>"true", "link"=>[{"@_fa"=>"true", "@ref"=>"self", "@href"=>"https://api.elsevier.com/content/abstract/scopus_id/85018989848"}, {"@_fa"=>"true", "@ref"=>"author-affiliation", "@href"=>"https://api.elsevier.com/content/abstract/scopus_id/85018989848?field=author,affiliation"}, {"@_fa"=>"true", "@ref"=>"scopus", "@href"=>"https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85018989848&origin=inward"}, {"@_fa"=>"true", "@ref"=>"scopus-citedby", "@href"=>"https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85018989848&origin=inward"}], "prism:url"=>"https://api.elsevier.com/content/abstract/scopus_id/85018989848", "dc:identifier"=>"SCOPUS_ID:85018989848", "eid"=>"2-s2.0-85018989848", "dc:title"=>"New NR5A1 mutations and phenotypic variations of gonadal dysgenesis", "dc:creator"=>"Werner R.", "prism:publicationName"=>"PLoS ONE", "prism:eIssn"=>"19326203", "prism:volume"=>"12", "prism:issueIdentifier"=>"5", "prism:pageRange"=>nil, "prism:coverDate"=>"2017-05-01", "prism:coverDisplayDate"=>"May 2017", "prism:doi"=>"10.1371/journal.pone.0176720", "citedby-count"=>"8", "affiliation"=>[{"@_fa"=>"true", "affilname"=>"Universität zu Lübeck", "affiliation-city"=>"Lübeck", "affiliation-country"=>"Germany"}], "pubmed-id"=>"28459839", "prism:aggregationType"=>"Journal", "subtype"=>"ar", "subtypeDescription"=>"Article", "article-number"=>"e0176720", "source-id"=>"10600153309", "openaccess"=>"1", "openaccessFlag"=>true}

Counter

  • {"month"=>"5", "year"=>"2017", "pdf_views"=>"99", "xml_views"=>"14", "html_views"=>"458"}
  • {"month"=>"6", "year"=>"2017", "pdf_views"=>"18", "xml_views"=>"0", "html_views"=>"65"}
  • {"month"=>"7", "year"=>"2017", "pdf_views"=>"19", "xml_views"=>"3", "html_views"=>"51"}
  • {"month"=>"8", "year"=>"2017", "pdf_views"=>"25", "xml_views"=>"2", "html_views"=>"55"}
  • {"month"=>"9", "year"=>"2017", "pdf_views"=>"40", "xml_views"=>"2", "html_views"=>"48"}
  • {"month"=>"10", "year"=>"2017", "pdf_views"=>"13", "xml_views"=>"0", "html_views"=>"54"}
  • {"month"=>"11", "year"=>"2017", "pdf_views"=>"6", "xml_views"=>"1", "html_views"=>"136"}
  • {"month"=>"12", "year"=>"2017", "pdf_views"=>"5", "xml_views"=>"0", "html_views"=>"316"}
  • {"month"=>"1", "year"=>"2018", "pdf_views"=>"7", "xml_views"=>"0", "html_views"=>"40"}
  • {"month"=>"2", "year"=>"2018", "pdf_views"=>"9", "xml_views"=>"0", "html_views"=>"21"}
  • {"month"=>"3", "year"=>"2018", "pdf_views"=>"30", "xml_views"=>"0", "html_views"=>"32"}
  • {"month"=>"4", "year"=>"2018", "pdf_views"=>"5", "xml_views"=>"0", "html_views"=>"26"}
  • {"month"=>"5", "year"=>"2018", "pdf_views"=>"13", "xml_views"=>"0", "html_views"=>"28"}
  • {"month"=>"6", "year"=>"2018", "pdf_views"=>"11", "xml_views"=>"2", "html_views"=>"16"}
  • {"month"=>"7", "year"=>"2018", "pdf_views"=>"7", "xml_views"=>"3", "html_views"=>"19"}
  • {"month"=>"8", "year"=>"2018", "pdf_views"=>"13", "xml_views"=>"1", "html_views"=>"27"}
  • {"month"=>"9", "year"=>"2018", "pdf_views"=>"13", "xml_views"=>"1", "html_views"=>"29"}
  • {"month"=>"10", "year"=>"2018", "pdf_views"=>"6", "xml_views"=>"1", "html_views"=>"23"}
  • {"month"=>"11", "year"=>"2018", "pdf_views"=>"5", "xml_views"=>"0", "html_views"=>"18"}
  • {"month"=>"12", "year"=>"2018", "pdf_views"=>"5", "xml_views"=>"1", "html_views"=>"23"}
  • {"month"=>"1", "year"=>"2019", "pdf_views"=>"4", "xml_views"=>"2", "html_views"=>"5"}
  • {"month"=>"2", "year"=>"2019", "pdf_views"=>"4", "xml_views"=>"0", "html_views"=>"34"}
  • {"month"=>"3", "year"=>"2019", "pdf_views"=>"21", "xml_views"=>"4", "html_views"=>"26"}
  • {"month"=>"4", "year"=>"2019", "pdf_views"=>"8", "xml_views"=>"0", "html_views"=>"14"}
  • {"month"=>"5", "year"=>"2019", "pdf_views"=>"6", "xml_views"=>"1", "html_views"=>"21"}
  • {"month"=>"6", "year"=>"2019", "pdf_views"=>"13", "xml_views"=>"0", "html_views"=>"20"}
  • {"month"=>"7", "year"=>"2019", "pdf_views"=>"9", "xml_views"=>"1", "html_views"=>"16"}

PMC Usage Stats

  • {"unique-ip"=>"41", "full-text"=>"49", "pdf"=>"19", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"5"}
  • {"unique-ip"=>"34", "full-text"=>"38", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2017", "month"=>"6"}
  • {"unique-ip"=>"43", "full-text"=>"43", "pdf"=>"15", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"16", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2017", "month"=>"7"}
  • {"unique-ip"=>"40", "full-text"=>"39", "pdf"=>"17", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"8", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2017", "month"=>"8"}
  • {"unique-ip"=>"30", "full-text"=>"32", "pdf"=>"21", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"9"}
  • {"unique-ip"=>"44", "full-text"=>"47", "pdf"=>"19", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"17", "supp-data"=>"6", "cited-by"=>"0", "year"=>"2017", "month"=>"10"}
  • {"unique-ip"=>"37", "full-text"=>"43", "pdf"=>"17", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"8", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"11"}
  • {"unique-ip"=>"22", "full-text"=>"23", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"12"}
  • {"unique-ip"=>"13", "full-text"=>"14", "pdf"=>"3", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"1"}
  • {"unique-ip"=>"1", "full-text"=>"1", "pdf"=>"1", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"2"}
  • {"unique-ip"=>"21", "full-text"=>"20", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"3"}
  • {"unique-ip"=>"22", "full-text"=>"23", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"1"}
  • {"unique-ip"=>"20", "full-text"=>"20", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2018", "month"=>"11"}
  • {"unique-ip"=>"24", "full-text"=>"30", "pdf"=>"11", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"8", "cited-by"=>"0", "year"=>"2018", "month"=>"12"}
  • {"unique-ip"=>"30", "full-text"=>"33", "pdf"=>"14", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"11", "cited-by"=>"0", "year"=>"2018", "month"=>"4"}
  • {"unique-ip"=>"24", "full-text"=>"20", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2018", "month"=>"6"}
  • {"unique-ip"=>"19", "full-text"=>"21", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"5"}
  • {"unique-ip"=>"20", "full-text"=>"16", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2018", "month"=>"7"}
  • {"unique-ip"=>"22", "full-text"=>"22", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"10"}
  • {"unique-ip"=>"24", "full-text"=>"27", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"8"}
  • {"unique-ip"=>"19", "full-text"=>"18", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"9"}
  • {"unique-ip"=>"28", "full-text"=>"28", "pdf"=>"12", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"2"}
  • {"unique-ip"=>"26", "full-text"=>"31", "pdf"=>"10", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2019", "month"=>"3"}
  • {"unique-ip"=>"23", "full-text"=>"31", "pdf"=>"8", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2019", "month"=>"4"}
  • {"unique-ip"=>"17", "full-text"=>"19", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2019", "month"=>"5"}
Loading … Spinner
There are currently no alerts