Mutations in HFM1 in Recessive Primary Ovarian Insufficiency
To the Editor: Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are obser...
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| Veröffentlicht in: | The New England journal of medicine 2014-03, Vol.370 (10), p.972-974 |
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| container_title | The New England journal of medicine |
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| creator | Wang, Jian Zhang, Wenxiang Jiang, Hong Wu, Bai-Lin |
| description | To the Editor:
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are observed in approximately 12% of patients. The disorder is believed to have a strong genetic component, but the underlying cause remains unknown in the majority of patients.
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Although there is no direct evidence that meiotic gene expression is involved in this disorder, several meiotic-gene knockout mice have had phenotypes resembling human primary ovarian . . . |
| doi_str_mv | 10.1056/NEJMc1310150 |
| format | Article |
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Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are observed in approximately 12% of patients. The disorder is believed to have a strong genetic component, but the underlying cause remains unknown in the majority of patients.
1
,
2
Although there is no direct evidence that meiotic gene expression is involved in this disorder, several meiotic-gene knockout mice have had phenotypes resembling human primary ovarian . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJMc1310150</identifier><identifier>PMID: 24597873</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Amenorrhea ; Amino Acid Sequence ; DNA Helicases - genetics ; Female ; Gene expression ; Genes, Recessive ; Genetics ; Gonadotropins ; Heterozygote ; Humans ; Infertility ; Meiosis ; Meiosis - genetics ; Molecular Sequence Data ; Mutation ; Phenotypes ; Pituitary (anterior) ; Primary Ovarian Insufficiency - genetics ; Reproductive system ; Womens health</subject><ispartof>The New England journal of medicine, 2014-03, Vol.370 (10), p.972-974</ispartof><rights>Copyright © 2014 Massachusetts Medical Society. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c429t-ed66b86a7a041cb0c50d57dd158c2165115e3aec95e95280240d1a2a0215c2dc3</citedby><cites>FETCH-LOGICAL-c429t-ed66b86a7a041cb0c50d57dd158c2165115e3aec95e95280240d1a2a0215c2dc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJMc1310150$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJMc1310150$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24597873$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, Jian</creatorcontrib><creatorcontrib>Zhang, Wenxiang</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Wu, Bai-Lin</creatorcontrib><creatorcontrib>Primary Ovarian Insufficiency Collaboration</creatorcontrib><title>Mutations in HFM1 in Recessive Primary Ovarian Insufficiency</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>To the Editor:
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are observed in approximately 12% of patients. The disorder is believed to have a strong genetic component, but the underlying cause remains unknown in the majority of patients.
1
,
2
Although there is no direct evidence that meiotic gene expression is involved in this disorder, several meiotic-gene knockout mice have had phenotypes resembling human primary ovarian . . .</description><subject>Amenorrhea</subject><subject>Amino Acid Sequence</subject><subject>DNA Helicases - genetics</subject><subject>Female</subject><subject>Gene expression</subject><subject>Genes, Recessive</subject><subject>Genetics</subject><subject>Gonadotropins</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infertility</subject><subject>Meiosis</subject><subject>Meiosis - genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Phenotypes</subject><subject>Pituitary (anterior)</subject><subject>Primary Ovarian Insufficiency - genetics</subject><subject>Reproductive system</subject><subject>Womens health</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpt0M9LwzAUB_AgipvTm2cp6MGD1ffSpD_Ai4xNJ5sT0XPJ0jfIWNPZtIP997Z0ioi5vMuHL_l-GTtHuEWQ4d3L6HmmMUBACQesjzIIfCEgPGR9AB77IkqCHjtxbgXNQ5Ecsx4XMoniKOiz-1ldqcoU1nnGek_jGbb3jTQ5Z7bkvZYmV-XOm29VaZT1JtbVy6XRhqzenbKjpVo7OtvfAfsYj96HT_50_jgZPkx9LXhS-ZSF4SIOVaRAoF6AlpDJKMtQxppjKBElBYp0IimRPAYuIEPFFXCUmmc6GLDrLndTFp81uSrNjdO0XitLRe3SprnkUoSYNPTyD10VdWmb37VKxNjUbtVNp3RZOFfSMt10PVOEtF01_b1qwy_2ofUip-wHf8_YgKsO5LlLLa3y_3O-AED5eig</recordid><startdate>20140306</startdate><enddate>20140306</enddate><creator>Wang, Jian</creator><creator>Zhang, Wenxiang</creator><creator>Jiang, Hong</creator><creator>Wu, Bai-Lin</creator><general>Massachusetts Medical Society</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20140306</creationdate><title>Mutations in HFM1 in Recessive Primary Ovarian Insufficiency</title><author>Wang, Jian ; Zhang, Wenxiang ; Jiang, Hong ; Wu, Bai-Lin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c429t-ed66b86a7a041cb0c50d57dd158c2165115e3aec95e95280240d1a2a0215c2dc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Amenorrhea</topic><topic>Amino Acid Sequence</topic><topic>DNA Helicases - genetics</topic><topic>Female</topic><topic>Gene expression</topic><topic>Genes, Recessive</topic><topic>Genetics</topic><topic>Gonadotropins</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infertility</topic><topic>Meiosis</topic><topic>Meiosis - genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Phenotypes</topic><topic>Pituitary (anterior)</topic><topic>Primary Ovarian Insufficiency - genetics</topic><topic>Reproductive system</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, Jian</creatorcontrib><creatorcontrib>Zhang, Wenxiang</creatorcontrib><creatorcontrib>Jiang, Hong</creatorcontrib><creatorcontrib>Wu, Bai-Lin</creatorcontrib><creatorcontrib>Primary Ovarian Insufficiency Collaboration</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>New England Journal of Medicine</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, Jian</au><au>Zhang, Wenxiang</au><au>Jiang, Hong</au><au>Wu, Bai-Lin</au><aucorp>Primary Ovarian Insufficiency Collaboration</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutations in HFM1 in Recessive Primary Ovarian Insufficiency</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2014-03-06</date><risdate>2014</risdate><volume>370</volume><issue>10</issue><spage>972</spage><epage>974</epage><pages>972-974</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>To the Editor:
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years. It is a heterogeneous disease, and most cases appear to be sporadic, yet familial cases are observed in approximately 12% of patients. The disorder is believed to have a strong genetic component, but the underlying cause remains unknown in the majority of patients.
1
,
2
Although there is no direct evidence that meiotic gene expression is involved in this disorder, several meiotic-gene knockout mice have had phenotypes resembling human primary ovarian . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>24597873</pmid><doi>10.1056/NEJMc1310150</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0028-4793 |
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| issn | 0028-4793 1533-4406 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; New England Journal of Medicine |
| subjects | Amenorrhea Amino Acid Sequence DNA Helicases - genetics Female Gene expression Genes, Recessive Genetics Gonadotropins Heterozygote Humans Infertility Meiosis Meiosis - genetics Molecular Sequence Data Mutation Phenotypes Pituitary (anterior) Primary Ovarian Insufficiency - genetics Reproductive system Womens health |
| title | Mutations in HFM1 in Recessive Primary Ovarian Insufficiency |
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