243
Discovering the Function of CHD Genes
Delay in Young Children with Congenital Heart Disease.”
Pediatrics 133 (3). https://doi.org/10.1542/peds.20132309 .
Nie, Shuyi, and Marianne E. Bronner. 2015. “Dual Developmental
Role of Transcriptional Regulator Ets1 in Xenopus Cardiac
Neural Crest vs. Heart Mesoderm.” Cardiovascular Research
106 (1): 67–75. https://doi.org/10.1093/cvr/cvv043 .
Ocaña, Oscar H., Hakan Coskun, Carolina Minguillón, Prayag
Murawala, Elly M. Tanaka, Joan Galcerán, Ramón MuñozChápuli, and M. Angela Nieto. 2017. “A Right-Handed
Signalling Pathway Drives Heart Looping in Vertebrates.”
Nature 549 (7670): 86–90. https://doi.org/10.1038/nature
23454.
Offeld, Martin F., Nicolas Hirsch, and Robert M. Grainger. 2000.
“The Development of Xenopus tropicalis Transgenic Lines
and Their Use in Studying Lens Developmental Timing in
Living Embryos.” Development 127 (9): 1789–1797.
Peacock, Thomas B. 1858. On Malformation of the Human Heart
with Original Cases. London: John Churchill.
Pediatric Cardiac Genomics Consortium, Bruce Gelb, Martina
Brueckner, Wendy Chung, Elizabeth Goldmuntz, Jonathan
Kaltman, Juan Pablo Kaski, et al. 2013. “The Congenital
Heart Disease Genetic Network Study: Rationale, Design,
and Early Results.” Circulation Research 112 (4): 698–706.
https://doi.org/10.1161/CIRCRESAHA.111.300297 .
Penny, L. A., M. Dell’Aquila, M. C. Jones, J. Bergoffen, C. Cunniff,
J. P. Fryns, E. Grace, et al. 1995. “Clinical and Molecular
Characterization of Patients with Distal 11q Deletions.”
American Journal of Human Genetics 56 (3): 676–683.
Raya, Angel, Yasuhiko Kawakami, Concepcion RodriguezEsteban, Dirk Buscher, Christopher M Koth, Tohru Itoh,
Masanobu Morita, et al. 2003. “Notch Activity Induces
Nodal Expression and Mediates the Establishment of
Left-Right Asymmetry in Vertebrate Embryos.” Genes &
Development 17 (10): 1213–1218. https://doi.org/10.1101/
gad.1084403.
Ryan, Aimee K., Bruce Blumberg, Concepción Rodriguez-Esteban,
Sayuri Yonei-Tamura, Koji Tamura, Tohru Tsukui, J. de la
Peña, et al. 1998. “Pitx2 Determines Left-Right Asymmetry
of Internal Organs in Vertebrates.” Nature 394 (6693): 545–
551. https://doi.org/10.1038/29004 .
Sater, A. K., and A. G. Jacobson. 1989. “The Specifcation of Heart
Mesoderm Occurs during Gastrulation in Xenopus laevis.”
Development 105 (4): 821–830.
Schott, Jean Jacques, D. Woodrow Benson, Craig T. Basson,
William Pease, G. Michael Silberbach, Jeffrey P. Moak,
Barry J. Maron, Christine E. Seidman, and J. G. Seidman.
1998. “Congenital Heart Disease Caused by Mutations in the
Transcription Factor NKX2–5.” Science 281 (5373): 108–
111. https://doi.org/10.1126/science.281.5373.108 .
Schweickert, Axel, Philipp Vick, Maike Getwan, Thomas Weber,
Isabelle Schneider, Melanie Eberhardt, Tina Beyer, Anke
Pachur, and Martin Blum. 2010. “The Nodal Inhibitor
Coco Is a Critical Target of Leftward Flow in Xenopus.”
Current Biology 20 (8): 738–743. https://doi.org/10.1016/j.
cub.2010.02.061 .
Sharma, Manisha, Michael Johnson, Mariana Brocardo, Cara
Jamieson, and Beric R. Henderson. 2014. “Wnt Signaling
Proteins Associate with the Nuclear Pore Complex:
Implications for Cancer.” In Cancer Biology and the Nuclear
Envelope: Recent Advances May Elucidate Past Paradoxes,
edited by Eric C. Schirmer and Jose I. de las Heras,
353–372. New York, NY: Springer New York. https://doi.
org/10.1007/978-1-4899-8032-8_16 .
Suh, Eun Kyung, and Barry M. Gumbiner. 2003. “Translocation
of β-Catenin into the Nucleus Independent of Interactions
with FG-Rich Nucleoporins.” Experimental Cell Research
290 (2): 447–456. https://doi.org/10.1016/S0014-4827(03)
00370-7.
Sumanas, Saulius, and Shuo Lin. 2006. “Ets1-Related Protein
Is a Key Regulator of Vasculogenesis in Zebraf sh.” PLoS
Biology 4 (1): 60–69. https://doi.org/10.1371/journal.pbio.
0040010.
Sutherland, Mardi J., and Stephanie M. Ware. 2009. “Disorders
of Left-Right Asymmetry: Heterotaxy and Situs Inversus.”
American Journal of Medical Genetics, Part C: Seminars in
Medical Genetics 151 (4): 307–317. https://doi.org/10.1002/
ajmg.c.30228 .
Szeto, Daniel P., Kevin J.P. Griffn, and David Kimelman. 2002.
“HrT Is Required for Cardiovascular Development in
Zebraf sh.” Development 129 (21): 5093–5101.
Tabin, Clifford J., and Kyle J. Vogan. 2003. “A Two-Cilia Model
for Vertebrate Left-Right Axis Specif cation.” Genes and
Development 17 (1): 1–6. https://doi.org/10.1101/gad.
1053803.
Tahtakran, Siroun A., and Mark A.J. Selleck. 2003. “Ets-1
Expression Is Associated with Cranial Neural Crest
Migration and Vasculogenesis in the Chick Embryo.” Gene
Expression Patterns 3 (4): 455–458. https://doi.org/10.1016/
S1567-133X(03)00065-6 .
Taussig, Helen B. 1947. Congenital Malformations of the Heart.
New York: The Commonwealth Fund.
Tonissen, Kathryn F., Thomas A. Drysdale, Thierry J. Lints,
Richard P. Harvey, and Paul A. Krieg. 1994. “XNkx-2.5, a
Xenopus Gene Related to Nkx-2.5 and Tinman: Evidence for
a Conserved Role in Cardiac Development.” Developmental
Biology 162 (1): 325–328. https://doi.org/10.1006/dbio.1994.
1089.
Tsao, Po Nien, Michelle Vasconcelos, Konstantin I. Izvolsky, Jun
Qian, Jining Lu, and Wellington V. Cardoso. 2009. “Notch
Signaling Controls the Balance of Ciliated and Secretory
Cell Fates in Developing Airways.” Development 136 (13):
2297–2307. https://doi.org/10.1242/dev.034884 .
Virani, Salim S., Alvaro Alonso, Emelia J. Benjamin, Marcio S.
Bittencourt, Clifton W. Callaway, April P. Carson, Alanna
M. Chamberlain, et al. 2020. “Heart Disease and Stroke
Statistics—2020 Update: A Report From the American
Heart Association.” Circulation 141 (9): e1–458. https://doi.
org/10.1161/CIR.0000000000000757.
Vishnoi, Nidhi, Karthigeyan Dhanasekeran, Madeleine Chalfant,
Ivan Surovstev, Mustafa K. Khokha, and C. Patrick Lusk.
2020. “Differential Turnover of Nup188 Controls Its Levels
at Centrosomes and Role in Centriole Duplication.” The
Journal of Cell Biology 219 (3). https://doi.org/10.1083/
jcb.201906031 .
Viso, Florencia del, Fang Huang, Jordan Myers, Madeleine Chalfant,
Zhang Yongdeng, Nooreen Reza, Joerg Bewersdorf, C.
Patrick Lusk, and Mustafa Khokha. 2016. “Congenital Heart
Disease Genetics Uncovers Context-Dependent Organization
and Function of Nucleoporins at Cilia.” Developmental Cell
38 (5): 478–492. https://doi.org/10.1158/1940-6207.CAPR14-0359.Nrf2-dependent .
Wang, Duncheng, Shinu A. John, James L. Clements, Dean H.
Percy, Kevin P. Barton, and Lee Ann Garrett-Sinha. 2005.
“Ets-1 Defciency Leads to Altered B Cell Differentiation,
Hyperresponsiveness to TLR9 and Autoimmune Disease.”
International Immunology 17 (9): 1179–1191. https://doi.
org/10.1093/intimm/dxh295 .
Discovering the Function of CHD Genes
Delay in Young Children with Congenital Heart Disease.”
Pediatrics 133 (3). https://doi.org/10.1542/peds.20132309 .
Nie, Shuyi, and Marianne E. Bronner. 2015. “Dual Developmental
Role of Transcriptional Regulator Ets1 in Xenopus Cardiac
Neural Crest vs. Heart Mesoderm.” Cardiovascular Research
106 (1): 67–75. https://doi.org/10.1093/cvr/cvv043 .
Ocaña, Oscar H., Hakan Coskun, Carolina Minguillón, Prayag
Murawala, Elly M. Tanaka, Joan Galcerán, Ramón MuñozChápuli, and M. Angela Nieto. 2017. “A Right-Handed
Signalling Pathway Drives Heart Looping in Vertebrates.”
Nature 549 (7670): 86–90. https://doi.org/10.1038/nature
23454.
Offeld, Martin F., Nicolas Hirsch, and Robert M. Grainger. 2000.
“The Development of Xenopus tropicalis Transgenic Lines
and Their Use in Studying Lens Developmental Timing in
Living Embryos.” Development 127 (9): 1789–1797.
Peacock, Thomas B. 1858. On Malformation of the Human Heart
with Original Cases. London: John Churchill.
Pediatric Cardiac Genomics Consortium, Bruce Gelb, Martina
Brueckner, Wendy Chung, Elizabeth Goldmuntz, Jonathan
Kaltman, Juan Pablo Kaski, et al. 2013. “The Congenital
Heart Disease Genetic Network Study: Rationale, Design,
and Early Results.” Circulation Research 112 (4): 698–706.
https://doi.org/10.1161/CIRCRESAHA.111.300297 .
Penny, L. A., M. Dell’Aquila, M. C. Jones, J. Bergoffen, C. Cunniff,
J. P. Fryns, E. Grace, et al. 1995. “Clinical and Molecular
Characterization of Patients with Distal 11q Deletions.”
American Journal of Human Genetics 56 (3): 676–683.
Raya, Angel, Yasuhiko Kawakami, Concepcion RodriguezEsteban, Dirk Buscher, Christopher M Koth, Tohru Itoh,
Masanobu Morita, et al. 2003. “Notch Activity Induces
Nodal Expression and Mediates the Establishment of
Left-Right Asymmetry in Vertebrate Embryos.” Genes &
Development 17 (10): 1213–1218. https://doi.org/10.1101/
gad.1084403.
Ryan, Aimee K., Bruce Blumberg, Concepción Rodriguez-Esteban,
Sayuri Yonei-Tamura, Koji Tamura, Tohru Tsukui, J. de la
Peña, et al. 1998. “Pitx2 Determines Left-Right Asymmetry
of Internal Organs in Vertebrates.” Nature 394 (6693): 545–
551. https://doi.org/10.1038/29004 .
Sater, A. K., and A. G. Jacobson. 1989. “The Specifcation of Heart
Mesoderm Occurs during Gastrulation in Xenopus laevis.”
Development 105 (4): 821–830.
Schott, Jean Jacques, D. Woodrow Benson, Craig T. Basson,
William Pease, G. Michael Silberbach, Jeffrey P. Moak,
Barry J. Maron, Christine E. Seidman, and J. G. Seidman.
1998. “Congenital Heart Disease Caused by Mutations in the
Transcription Factor NKX2–5.” Science 281 (5373): 108–
111. https://doi.org/10.1126/science.281.5373.108 .
Schweickert, Axel, Philipp Vick, Maike Getwan, Thomas Weber,
Isabelle Schneider, Melanie Eberhardt, Tina Beyer, Anke
Pachur, and Martin Blum. 2010. “The Nodal Inhibitor
Coco Is a Critical Target of Leftward Flow in Xenopus.”
Current Biology 20 (8): 738–743. https://doi.org/10.1016/j.
cub.2010.02.061 .
Sharma, Manisha, Michael Johnson, Mariana Brocardo, Cara
Jamieson, and Beric R. Henderson. 2014. “Wnt Signaling
Proteins Associate with the Nuclear Pore Complex:
Implications for Cancer.” In Cancer Biology and the Nuclear
Envelope: Recent Advances May Elucidate Past Paradoxes,
edited by Eric C. Schirmer and Jose I. de las Heras,
353–372. New York, NY: Springer New York. https://doi.
org/10.1007/978-1-4899-8032-8_16 .
Suh, Eun Kyung, and Barry M. Gumbiner. 2003. “Translocation
of β-Catenin into the Nucleus Independent of Interactions
with FG-Rich Nucleoporins.” Experimental Cell Research
290 (2): 447–456. https://doi.org/10.1016/S0014-4827(03)
00370-7.
Sumanas, Saulius, and Shuo Lin. 2006. “Ets1-Related Protein
Is a Key Regulator of Vasculogenesis in Zebraf sh.” PLoS
Biology 4 (1): 60–69. https://doi.org/10.1371/journal.pbio.
0040010.
Sutherland, Mardi J., and Stephanie M. Ware. 2009. “Disorders
of Left-Right Asymmetry: Heterotaxy and Situs Inversus.”
American Journal of Medical Genetics, Part C: Seminars in
Medical Genetics 151 (4): 307–317. https://doi.org/10.1002/
ajmg.c.30228 .
Szeto, Daniel P., Kevin J.P. Griffn, and David Kimelman. 2002.
“HrT Is Required for Cardiovascular Development in
Zebraf sh.” Development 129 (21): 5093–5101.
Tabin, Clifford J., and Kyle J. Vogan. 2003. “A Two-Cilia Model
for Vertebrate Left-Right Axis Specif cation.” Genes and
Development 17 (1): 1–6. https://doi.org/10.1101/gad.
1053803.
Tahtakran, Siroun A., and Mark A.J. Selleck. 2003. “Ets-1
Expression Is Associated with Cranial Neural Crest
Migration and Vasculogenesis in the Chick Embryo.” Gene
Expression Patterns 3 (4): 455–458. https://doi.org/10.1016/
S1567-133X(03)00065-6 .
Taussig, Helen B. 1947. Congenital Malformations of the Heart.
New York: The Commonwealth Fund.
Tonissen, Kathryn F., Thomas A. Drysdale, Thierry J. Lints,
Richard P. Harvey, and Paul A. Krieg. 1994. “XNkx-2.5, a
Xenopus Gene Related to Nkx-2.5 and Tinman: Evidence for
a Conserved Role in Cardiac Development.” Developmental
Biology 162 (1): 325–328. https://doi.org/10.1006/dbio.1994.
1089.
Tsao, Po Nien, Michelle Vasconcelos, Konstantin I. Izvolsky, Jun
Qian, Jining Lu, and Wellington V. Cardoso. 2009. “Notch
Signaling Controls the Balance of Ciliated and Secretory
Cell Fates in Developing Airways.” Development 136 (13):
2297–2307. https://doi.org/10.1242/dev.034884 .
Virani, Salim S., Alvaro Alonso, Emelia J. Benjamin, Marcio S.
Bittencourt, Clifton W. Callaway, April P. Carson, Alanna
M. Chamberlain, et al. 2020. “Heart Disease and Stroke
Statistics—2020 Update: A Report From the American
Heart Association.” Circulation 141 (9): e1–458. https://doi.
org/10.1161/CIR.0000000000000757.
Vishnoi, Nidhi, Karthigeyan Dhanasekeran, Madeleine Chalfant,
Ivan Surovstev, Mustafa K. Khokha, and C. Patrick Lusk.
2020. “Differential Turnover of Nup188 Controls Its Levels
at Centrosomes and Role in Centriole Duplication.” The
Journal of Cell Biology 219 (3). https://doi.org/10.1083/
jcb.201906031 .
Viso, Florencia del, Fang Huang, Jordan Myers, Madeleine Chalfant,
Zhang Yongdeng, Nooreen Reza, Joerg Bewersdorf, C.
Patrick Lusk, and Mustafa Khokha. 2016. “Congenital Heart
Disease Genetics Uncovers Context-Dependent Organization
and Function of Nucleoporins at Cilia.” Developmental Cell
38 (5): 478–492. https://doi.org/10.1158/1940-6207.CAPR14-0359.Nrf2-dependent .
Wang, Duncheng, Shinu A. John, James L. Clements, Dean H.
Percy, Kevin P. Barton, and Lee Ann Garrett-Sinha. 2005.
“Ets-1 Defciency Leads to Altered B Cell Differentiation,
Hyperresponsiveness to TLR9 and Autoimmune Disease.”
International Immunology 17 (9): 1179–1191. https://doi.
org/10.1093/intimm/dxh295 .