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Accession PRJCA004739
Title Whole genome sequencing based mutational scanning in Klinefelter Syndrome patients
Relevance Medical
Data types Exome
Organisms Homo sapiens
Description Current understanding holds that Klinefelter syndrome (KS) is not inherited, but oc-curs randomly during meiosis. Whether there is any genetic basis for the origin of KS is unknown. To study the potential genetic basis for paternal-origin KS, we performed WES in 108 unrelated KS patients with the classical 47, XXY karyotype.
Sample scope Multiisolate
Release date 2022-05-11
Publication
PubMed ID Article title Journal name DOI Year
33978233 Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans The EMBO Journal 10.15252/embj.2020106864 2021
Grants
Agency program Grant ID Grant title
National Key R&D Program of China 2016YFA0500901
Strategic Priority Research Program of the Chinese Academy of Sciences XDA16020700
National Science Fund for Distinguished Young Scholars 81925015
National Natural Science Foundation of China (NSFC) 31771501
National Natural Science Foundation of China (NSFC) 81771538
National Natural Science Foundation of China (NSFC) 81571497
National Natural Science Foundation of China (NSFC) 31771588
National Natural Science Foundation of China (NSFC) 91649202
Youth Innovation Promotion Association CAS 2018109
Young Scholars Program of Shandong University 2016WLJH50
Natural Science Foundation of Shandong Province ZR2017MH049
Submitter Zi-Jiang    Chen  (chenzijiang@hotmail.com)
Organization Shandong University
Submission date 2021-03-18

Project Data

Resource name Description
BioSample (108)  show -