Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

Elena M. Wilson; Jungmin Choi; Vicente E. Torres; Stefan Somlo; Whitney Besse

doi:10.1016/j.ekir.2020.01.009

Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

Elena M. Wilson, Jungmin Choi, Vicente E. Torres, Stefan Somlo, Whitney Besse

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	727-731
Number of pages	5
Journal	Kidney International Reports
Volume	5
Issue number	5
DOIs	https://doi.org/10.1016/j.ekir.2020.01.009
Publication status	Published - 2020 May

Bibliographical note

Funding Information:
This study was funded by the following: a PKD Foundation Grant (217G18a), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O'Brien Kidney Center at Yale (P30 DK079310); the Mayo Translational PKD Center (P30 DK090728) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05). The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. The GSP Coordinating Center (U24 HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors would like to thank Dr. Ali Gharavi for his discussion of XHMM usage, the Yale Center for Mendelian Genomics for the whole exome sequencing, and the patients presented in this study.

Funding Information:
This study was funded by the following: a PKD Foundation Grant ( 217G18a ), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O’Brien Kidney Center at Yale ( P30 DK079310 ); the Mayo Translational PKD Center ( P30 DK090728 ) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05 ). The Yale Center for Mendelian Genomics ( UM1HG006504 ) is funded by the National Human Genome Research Institute . The GSP Coordinating Center ( U24 HG008956 ) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

ASJC Scopus subject areas

Nephrology

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10.1016/j.ekir.2020.01.009

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@article{2a0a07fb79e64eb9b2c0d828835a0172,

title = "Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease",

author = "Wilson, {Elena M.} and Jungmin Choi and Torres, {Vicente E.} and Stefan Somlo and Whitney Besse",

note = "Funding Information: This study was funded by the following: a PKD Foundation Grant (217G18a), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O'Brien Kidney Center at Yale (P30 DK079310); the Mayo Translational PKD Center (P30 DK090728) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05). The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. The GSP Coordinating Center (U24 HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors would like to thank Dr. Ali Gharavi for his discussion of XHMM usage, the Yale Center for Mendelian Genomics for the whole exome sequencing, and the patients presented in this study. Funding Information: This study was funded by the following: a PKD Foundation Grant ( 217G18a ), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O{\textquoteright}Brien Kidney Center at Yale ( P30 DK079310 ); the Mayo Translational PKD Center ( P30 DK090728 ) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05 ). The Yale Center for Mendelian Genomics ( UM1HG006504 ) is funded by the National Human Genome Research Institute . The GSP Coordinating Center ( U24 HG008956 ) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. ",

year = "2020",

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doi = "10.1016/j.ekir.2020.01.009",

language = "English",

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AU - Wilson, Elena M.

AU - Choi, Jungmin

AU - Torres, Vicente E.

AU - Somlo, Stefan

AU - Besse, Whitney

N1 - Funding Information: This study was funded by the following: a PKD Foundation Grant (217G18a), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O'Brien Kidney Center at Yale (P30 DK079310); the Mayo Translational PKD Center (P30 DK090728) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05). The Yale Center for Mendelian Genomics (UM1HG006504) is funded by the National Human Genome Research Institute. The GSP Coordinating Center (U24 HG008956) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors would like to thank Dr. Ali Gharavi for his discussion of XHMM usage, the Yale Center for Mendelian Genomics for the whole exome sequencing, and the patients presented in this study. Funding Information: This study was funded by the following: a PKD Foundation Grant ( 217G18a ), a Robert E. Leet and Clara Guthrie Patterson Trust Mentored Research Award, and a NIH grant K08DK119642 to WB; NIH grants DK100592 and DK51041 to SS; the George M. O’Brien Kidney Center at Yale ( P30 DK079310 ); the Mayo Translational PKD Center ( P30 DK090728 ) and an endowment from Robert M. and Billie J. Pirnie for Kidney Research; and the Yale Center for Mendelian Genomics (Yale CMG; NIH M#UM1HG006504-05 ). The Yale Center for Mendelian Genomics ( UM1HG006504 ) is funded by the National Human Genome Research Institute . The GSP Coordinating Center ( U24 HG008956 ) contributed to cross-program scientific initiatives and provided logistical and general study coordination. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

Bibliographical note

ASJC Scopus subject areas

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