SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Jung-Hyun Kim; Eun Young Park; David Chitayat; David L. Stachura; Jorg Schaper; Kristin Lindstrom; Tamison Jewett; Dagmar Wieczorek; Jos M. Draaisma; Margje Sinnema; Christianne Hoeberigs; Maja Hempel; Kristine K. Bachman; Andrea H. Seeley; Joshua K. Stone; Hyun Kyung Kong; Lana Vukadin; Alexander Richard; Deepali N. Shinde; Kirsty McWalter; Yue Cindy Si; Ganka Douglas; Ssang-Taek Lim; Lisenka E. L. M. Vissers; Mathieu Lemaire; Eun-Young Erin Ahn

doi:10.1016/j.kint.2019.01.025

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Jung-Hyun Kim, Eun Young Park, David Chitayat, David L. Stachura, Jorg Schaper, Kristin Lindstrom, Tamison Jewett, Dagmar Wieczorek, Jos M. Draaisma, Margje Sinnema, Christianne Hoeberigs, Maja Hempel, Kristine K. Bachman, Andrea H. Seeley, Joshua K. Stone, Hyun Kyung Kong, Lana Vukadin, Alexander Richard, Deepali N. Shinde, Kirsty McWalterYue Cindy Si, Ganka Douglas, Ssang-Taek Lim, Lisenka E. L. M. Vissers, Mathieu Lemaire^*, Eun-Young Erin Ahn^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	1494-1504
Number of pages	11
Journal	Kidney International
Volume	95
Issue number	6
DOIs	https://doi.org/10.1016/j.kint.2019.01.025
Publication status	Published - Jun 2019

Keywords

gene expression
genetic mutations
pediatric nephrology
pre-mRNA splicing
SON haploinsufficiency
INTELLECTUAL-DISABILITY
BRANCHING MORPHOGENESIS
KIDNEY
MUTATIONS
PKD1
IDENTIFICATION
CHILDREN
PROTEIN

Access to Document

10.1016/j.kint.2019.01.025

Cite this

Kim, J-H., Park, E. Y., Chitayat, D., Stachura, D. L., Schaper, J., Lindstrom, K., Jewett, T., Wieczorek, D., Draaisma, J. M., Sinnema, M., Hoeberigs, C., Hempel, M., Bachman, K. K., Seeley, A. H., Stone, J. K., Kong, H. K., Vukadin, L., Richard, A., Shinde, D. N., ... Ahn, E-Y. E. (2019). SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney International, 95(6), 1494-1504. https://doi.org/10.1016/j.kint.2019.01.025

Kim, Jung-Hyun ; Park, Eun Young ; Chitayat, David ; Stachura, David L. ; Schaper, Jorg ; Lindstrom, Kristin ; Jewett, Tamison ; Wieczorek, Dagmar ; Draaisma, Jos M. ; Sinnema, Margje ; Hoeberigs, Christianne ; Hempel, Maja ; Bachman, Kristine K. ; Seeley, Andrea H. ; Stone, Joshua K. ; Kong, Hyun Kyung ; Vukadin, Lana ; Richard, Alexander ; Shinde, Deepali N. ; McWalter, Kirsty ; Si, Yue Cindy ; Douglas, Ganka ; Lim, Ssang-Taek ; Vissers, Lisenka E. L. M. ; Lemaire, Mathieu ; Ahn, Eun-Young Erin. / SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. In: Kidney International. 2019 ; Vol. 95, No. 6. pp. 1494-1504.

@article{57d24a76e9a0451899cb4a4cc0c02888,

title = "SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes",

keywords = "gene expression, genetic mutations, pediatric nephrology, pre-mRNA splicing, SON haploinsufficiency, INTELLECTUAL-DISABILITY, BRANCHING MORPHOGENESIS, KIDNEY, MUTATIONS, PKD1, IDENTIFICATION, CHILDREN, PROTEIN",

author = "Jung-Hyun Kim and Park, {Eun Young} and David Chitayat and Stachura, {David L.} and Jorg Schaper and Kristin Lindstrom and Tamison Jewett and Dagmar Wieczorek and Draaisma, {Jos M.} and Margje Sinnema and Christianne Hoeberigs and Maja Hempel and Bachman, {Kristine K.} and Seeley, {Andrea H.} and Stone, {Joshua K.} and Kong, {Hyun Kyung} and Lana Vukadin and Alexander Richard and Shinde, {Deepali N.} and Kirsty McWalter and Si, {Yue Cindy} and Ganka Douglas and Ssang-Taek Lim and Vissers, {Lisenka E. L. M.} and Mathieu Lemaire and Ahn, {Eun-Young Erin}",

year = "2019",

month = jun,

doi = "10.1016/j.kint.2019.01.025",

language = "English",

volume = "95",

pages = "1494--1504",

journal = "Kidney International",

issn = "0085-2538",

publisher = "Elsevier Science",

number = "6",

}

Kim, J-H, Park, EY, Chitayat, D, Stachura, DL, Schaper, J, Lindstrom, K, Jewett, T, Wieczorek, D, Draaisma, JM, Sinnema, M , Hoeberigs, C, Hempel, M, Bachman, KK, Seeley, AH, Stone, JK, Kong, HK, Vukadin, L, Richard, A, Shinde, DN, McWalter, K, Si, YC, Douglas, G, Lim, S-T, Vissers, LELM, Lemaire, M & Ahn, E-YE 2019, 'SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes', Kidney International, vol. 95, no. 6, pp. 1494-1504. https://doi.org/10.1016/j.kint.2019.01.025

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. / Kim, Jung-Hyun; Park, Eun Young; Chitayat, David; Stachura, David L.; Schaper, Jorg; Lindstrom, Kristin; Jewett, Tamison; Wieczorek, Dagmar; Draaisma, Jos M.; Sinnema, Margje ; Hoeberigs, Christianne; Hempel, Maja; Bachman, Kristine K.; Seeley, Andrea H.; Stone, Joshua K.; Kong, Hyun Kyung; Vukadin, Lana; Richard, Alexander; Shinde, Deepali N.; McWalter, Kirsty; Si, Yue Cindy; Douglas, Ganka; Lim, Ssang-Taek; Vissers, Lisenka E. L. M.; Lemaire, Mathieu; Ahn, Eun-Young Erin.

In: Kidney International, Vol. 95, No. 6, 06.2019, p. 1494-1504.

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

TY - JOUR

T1 - SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

AU - Kim, Jung-Hyun

AU - Park, Eun Young

AU - Chitayat, David

AU - Stachura, David L.

AU - Schaper, Jorg

AU - Lindstrom, Kristin

AU - Jewett, Tamison

AU - Wieczorek, Dagmar

AU - Draaisma, Jos M.

AU - Sinnema, Margje

AU - Hoeberigs, Christianne

AU - Hempel, Maja

AU - Bachman, Kristine K.

AU - Seeley, Andrea H.

AU - Stone, Joshua K.

AU - Kong, Hyun Kyung

AU - Vukadin, Lana

AU - Richard, Alexander

AU - Shinde, Deepali N.

AU - McWalter, Kirsty

AU - Si, Yue Cindy

AU - Douglas, Ganka

AU - Lim, Ssang-Taek

AU - Vissers, Lisenka E. L. M.

AU - Lemaire, Mathieu

AU - Ahn, Eun-Young Erin

PY - 2019/6

Y1 - 2019/6

KW - gene expression

KW - genetic mutations

KW - pediatric nephrology

KW - pre-mRNA splicing

KW - SON haploinsufficiency

KW - INTELLECTUAL-DISABILITY

KW - BRANCHING MORPHOGENESIS

KW - KIDNEY

KW - MUTATIONS

KW - PKD1

KW - IDENTIFICATION

KW - CHILDREN

KW - PROTEIN

U2 - 10.1016/j.kint.2019.01.025

DO - 10.1016/j.kint.2019.01.025

M3 - Article

C2 - 31005274

VL - 95

SP - 1494

EP - 1504

JO - Kidney International

JF - Kidney International

SN - 0085-2538

IS - 6

ER -