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    • Investigation ofKITgene mutations in women with 46,XX spontaneous premature ovarian failure

    Metadata Updated: September 30, 2025

    Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency. The mechanisms that give rise to spontaneous premature ovarian failure are largely unknown, but many reports suggest a genetic mechanism in some cases. The small family size associated with infertility makes genetic linkage analysis studies extremely difficult. Another approach that has proven successful has been to examine candidate genes based on known genetic phenotypes in other species. Studies in mice have demonstrated that c-kit, a transmembrane tyrosine kinase receptor, plays a critical role in gametogenesis. Here we test the hypothesis that humanKITmutations might be a cause of spontaneous premature ovarian failure.

    Access & Use Information

    Public: This dataset is intended for public access and use. License: No license information was provided. If this work was prepared by an officer or employee of the United States government as part of that person's official duties it is considered a U.S. Government Work.

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    Dates

    Metadata Created Date July 24, 2025
    Metadata Updated Date September 30, 2025

    Metadata Source

    Harvested from Healthdata.gov

    Other Data Resources

    Additional Metadata

    Resource Type Dataset
    Metadata Created Date July 24, 2025
    Metadata Updated Date September 30, 2025
    Publisher National Institutes of Health
    Maintainer
    NIH
    Identifier https://healthdata.gov/api/views/gejp-3djf
    Data First Published 2025-07-14
    Data Last Modified 2025-09-29
    Category NIH
    Public Access Level public
    Bureau Code 009:25
    Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
    Metadata Catalog ID https://healthdata.gov/data.json
    Schema Version https://project-open-data.cio.gov/v1.1/schema
    Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
    Harvest Object Id 8c0a2dd3-6d01-488e-a70a-770a0d54c5d7
    Harvest Source Id 651e43b2-321c-4e4c-b86a-835cfc342cb0
    Harvest Source Title Healthdata.gov
    Homepage URL https://healthdata.gov/d/gejp-3djf
    Program Code 009:033
    Source Datajson Identifier True
    Source Hash 0bb2b155c5a0d6a9d536eb82619add30816e70506350dbb01599d3add08b549a
    Source Schema Version 1.1

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