Cardiac Developmental Biology

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2020

A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy

Shikany, A. R., Landis, B. J., Parrott, A., Miller, E. M., Coyan, A., Walters, L., Hinton, R. B., Goldenberg, P. & Ware, S. M., 2020, (Accepted/In press) In : Journal of Pediatrics.

Research output: Contribution to journalArticle

Adolescents with congenital heart defects: A patient and parental perspective of genetic information and genetic risk

Crawford, C. A., Vujakovich, C. E., Elmore, L., Fleming, E., Landis, B. J., Spoonamore, K. G. & Ware, S. M., 2020, In : Cardiology in the Young. 30, 2, p. 219-226 8 p.

Research output: Contribution to journalArticle

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease

Arya, P., Wilson, T. E., Parent, J. J., Ware, S. M., Breman, A. M. & Helm, B. M., Apr 2020, In : European Journal of Medical Genetics. 63, 4, 103797.

Research output: Contribution to journalArticle

Cross-talk between transforming growth factor-b and periostin can be targeted for pulmonary fibrosis

Nanri, Y., Nunomura, S., Terasaki, Y., Yoshihara, T., Hirano, Y., Yokosaki, Y., Yamaguchi, Y., Feghali-Bostwick, C., Ajito, K., Murakami, S., Conway, S. J. & Izuhara, K., 2020, In : American journal of respiratory cell and molecular biology. 62, 2, p. 204-216 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Effects of ondansetron on apamin-sensitive small conductance calcium-activated potassium currents in pacing-induced failing rabbit hearts

Yin, D., Yang, N., Tian, Z., Wu, A. Z., Xu, D., Chen, M., Kamp, N. J., Wang, Z., Shen, C., Chen, Z., Lin, S. F., Rubart-von der Lohe, M., Chen, P. S. & Everett, T. H., Feb 2020, In : Heart Rhythm. 17, 2, p. 332-340 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Generation of transgenic mice that conditionally express microRNA miR-145

Sawant, D., Klevenow, E., Baeten, J. T., Thomas, S., Manivannan, S., Conway, S. J. & Lilly, B., Sep 1 2020, In : Genesis. 58, 9, e23385.

Research output: Contribution to journalArticle

Genome-wide studies reveal the essential and opposite roles of ARID1A in controlling human cardiogenesis and neurogenesis from pluripotent stem cells

Liu, J., Liu, S., Gao, H., Han, L., Chu, X., Sheng, Y., Shou, W., Wang, Y., Liu, Y., Wan, J. & Yang, L., Jul 9 2020, In : Genome biology. 21, 1, 169.

Research output: Contribution to journalArticle

Open Access

HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure

Firulli, B. A., George, R. M., Harkin, J., Toolan, K. P., Gao, H., Liu, Y., Zhang, W., Field, L. J., Liu, Y., Shou, W., Payne, R. M., Rubart-Von Der Lohe, M. & Firulli, A. B., Mar 1 2020, In : Cardiovascular research. 116, 3, p. 605-618 14 p.

Research output: Contribution to journalArticle

2 Scopus citations

Periostin forms a functional complex with IgA in human serum

Ono, J., Takai, M., Kamei, A., Nunomura, S., Nanri, Y., Yoshihara, T., Ohta, S., Yasuda, K., Conway, S. J., Yokosaki, Y. & Izuhara, K., Jan 2020, In : Allergology International. 69, 1, p. 111-120 10 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F. & 9 others, Baralle, D., Mancini, G. M. S., Conway, S. J., Xia, F., Chen, Z., Meng, L., Mihajlovic, L., Marmorstein, R. & Lyon, G. J., Mar 27 2020, In : Human molecular genetics. 29, 5, p. 877-878 2 p.

Research output: Contribution to journalArticle

Open Access

ROCK2 inhibition enhances the thermogenic program in white and brown fat tissue in mice

Wei, L., Surma, M., Yang, Y., Tersey, S. & Shi, J., Jan 1 2020, In : FASEB Journal. 34, 1, p. 474-493 20 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Sex-specific IKAS activation in rabbit ventricles with drug-induced QT prolongation

Wu, A. Z., Chen, M., Yin, D., Everett, T. H., Chen, Z., Rubart-von der Lohe, M., Weiss, J. N., Qu, Z. & Chen, P. S., 2020, (Accepted/In press) In : Heart Rhythm.

Research output: Contribution to journalArticle

SHROOM3 is downstream of the planar cell polarity pathway and loss-of-function results in congenital heart defects

Durbin, M. D., O'Kane, J., Lorentz, S., Firulli, A. B. & Ware, S. M., Aug 15 2020, In : Developmental Biology. 464, 2, p. 124-136 13 p.

Research output: Contribution to journalArticle

Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function

Vincentz, J. W., Firulli, B. A., Toolan, K. P., Arking, D. E., Sotoodehnia, N., Wan, J., Chen, P. S., De Gier-De Vries, C., Christoffels, V. M., Rubart-Von Der Lohe, M. & Firulli, A. B., 2020, (Accepted/In press) In : Circulation research. p. 575-589 15 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

α-Galactosylceramide and its analog OCH differentially affect the pathogenesis of ISO-induced cardiac injury in mice

Chen, X., Liu, J., Liu, J., Wang, W. J., Lai, W. J., Li, S. H., Deng, Y. F., Zhou, J. Z., Yang, S. Q., Liu, Y., Shou, W. N., Cao, D. Y. & Li, X. H., 2020, (Accepted/In press) In : Acta Pharmacologica Sinica.

Research output: Contribution to journalArticle

2019

Armadillo-like helical domain containing-4 is dynamically expressed in both the first and second heart fields

Conway, S. J., McConnell, R., Simmons, O. & Snider, P. L., Dec 2019, In : Gene Expression Patterns. 34, 119077.

Research output: Contribution to journalArticle

Atrial fibrillation and electrophysiology in transgenic mice with cardiac-restricted overexpression of FKBP12

Pan, Z., Ai, T., Chang, P. C., Liu, Y., Liu, J., Maruyama, M., Homsi, M., Fishbein, M. C., Rubart, M., Lin, S. F., Xiao, D., Chen, H., Chen, P. S., Shou, W. & Li, B. Y., Feb 2019, In : American Journal of Physiology - Heart and Circulatory Physiology. 316, 2, p. H371-H379

Research output: Contribution to journalArticle

1 Scopus citations

BMP10 preserves cardiac function through its dual activation of SMAD-mediated and STAT3-mediated pathways

Qu, X., Liu, Y., Cao, D., Chen, L. J., Liu, Z., Ji, H., Chen, Y., Zhang, W., Zhu, P., Xiao, D., Li, X., Shou, W. & Chen, H., Dec 27 2019, In : Journal of Biological Chemistry. 294, 52, p. 19877-19888 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Cardiac biomarkers in pediatric cardiomyopathy: Study design and recruitment results from the Pediatric Cardiomyopathy Registry

Pediatric Cardiomyopathy Registry Investigators, Jun 2019, In : Progress in Pediatric Cardiology. 53, p. 1-10 10 p.

Research output: Contribution to journalArticle

Cardiac sympathetic innervation network shapes the myocardium by locally controlling cardiomyocyte size through the cellular proteolytic machinery

Pianca, N., Di Bona, A., Lazzeri, E., Costantini, I., Franzoso, M., Prando, V., Armani, A., Rizzo, S., Fedrigo, M., Angelini, A., Basso, C., Pavone, F. S., Rubart, M., Sacconi, L., Zaglia, T. & Mongillo, M., Jul 15 2019, In : Journal of Physiology. 597, 14, p. 3639-3656 18 p.

Research output: Contribution to journalArticle

5 Scopus citations

Disruption of both ROCK1 and ROCK2 genes in cardiomyocytes promotes autophagy and reduces cardiac fibrosis during aging

Shi, J., Surma, M., Yang, Y. & Wei, L., Jun 1 2019, In : FASEB Journal. 33, 6, p. 7348-7362 15 p.

Research output: Contribution to journalArticle

9 Scopus citations

Distinct roles of myofibroblast-specific Smad2 and Smad3 signaling in repair and remodeling of the infarcted heart

Huang, S., Chen, B., Su, Y., Alex, L., Humeres, C., Shinde, A. V., Conway, S. J. & Frangogiannis, N. G., Jul 2019, In : Journal of Molecular and Cellular Cardiology. 132, p. 84-97 14 p.

Research output: Contribution to journalArticle

9 Scopus citations

Enhanced mTOR complex 1 signaling attenuates diabetic cardiac injury in OVE26 mice

Xu, X., Kobayashi, S., Timm, D., Huang, Y., Zhao, F., Shou, W. & Liang, Q., Nov 1 2019, In : FASEB Journal. 33, 11, p. 12800-12811 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Fibroblast Primary Cilia Are Required for Cardiac Fibrosis

Villalobos, E., Criollo, A., Schiattarella, G. G., Altamirano, F., French, K. M., May, H. I., Jiang, N., Nguyen, N. U. N., Romero, D., Roa, J. C., García, L., Diaz-Araya, G., Morselli, E., Ferdous, A., Conway, S. J., Sadek, H. A., Gillette, T. G., Lavandero, S. & Hill, J. A., May 14 2019, In : Circulation. 139, 20, p. 2342-2357 16 p.

Research output: Contribution to journalArticle

16 Scopus citations

Genetic architecture of laterality defects revealed by whole exome sequencing

Li, A. H., Hanchard, N. A., Azamian, M., D’Alessandro, L. C. A., Coban-Akdemir, Z., Lopez, K. N., Hall, N. J., Dickerson, H., Nicosia, A., Fernbach, S., Boone, P. M., Gambin, T., Karaca, E., Gu, S., Yuan, B., Jhangiani, S. N., Doddapaneni, H. V., Hu, J., Dinh, H., Jayaseelan, J. & 11 others, Muzny, D., Lalani, S., Towbin, J., Penny, D., Fraser, C., Martin, J., Lupski, J. R., Gibbs, R. A., Boerwinkle, E., Ware, S. M. & Belmont, J. W., Apr 1 2019, In : European Journal of Human Genetics. 27, 4, p. 563-573 11 p.

Research output: Contribution to journalArticle

9 Scopus citations

Hand Factors in Cardiac Development

George, R. M. & Firulli, A. B., Jan 2019, In : Anatomical Record. 302, 1, p. 101-107 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis

Burkhalter, M. D., Sridhar, A., Sampaio, P., Jacinto, R., Burczyk, M. S., Donow, C., Angenendt, M., Hempel, M., Walther, P., Pennekamp, P., Omran, H., Lopes, S. S., Ware, S. M. & Philipp, M., Jan 1 2019, In : Journal of Clinical Investigation. 129, 7, p. 2841-2855 15 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Inactivation of Sox9 in fibroblasts reduces cardiac fibrosis and inflammation

Scharf, G. M., Kilian, K., Cordero, J., Wang, Y., Grund, A., Hofmann, M., Froese, N., Wang, X., Kispert, A., Kist, R., Conway, S. J., Geffers, R., Wollert, K. C., Dobreva, G., Bauersachs, J. & Heineke, J., Aug 8 2019, In : JCI Insight. 4, 15, e126721.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Loss of FKBP5 Affects Neuron Synaptic Plasticity: An Electrophysiology Insight

Qiu, B., Xu, Y., Wang, J., Liu, M., Dou, L., Deng, R., Wang, C., Williams, K. E., Stewart, R. B., Xie, Z., Ren, W., Zhao, Z., Shou, W., Liang, T. & Yong, W., Mar 15 2019, In : Neuroscience. 402, p. 23-36 14 p.

Research output: Contribution to journalArticle

4 Scopus citations

Myofibroblast β2 adrenergic signaling amplifies cardiac hypertrophy in mice

Imaeda, A., Tanaka, S., Tonegawa, K., Fuchigami, S., Obana, M., Maeda, M., Kihara, M., Kiyonari, H., Conway, S. J., Fujio, Y. & Nakayama, H., Feb 26 2019, In : Biochemical and Biophysical Research Communications. 510, 1, p. 149-155 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Partially Penetrant Cardiac Neural Crest Defects in Hand1 Phosphomutant Mice: Dimer Choice That Is Not So Critical

Firulli, B. A. & Firulli, A. B., Oct 1 2019, In : Pediatric Cardiology. 40, 7, p. 1339-1344 6 p.

Research output: Contribution to journalArticle

PAX3 Confers Functional Heterogeneity in Skeletal Muscle Stem Cell Responses to Environmental Stress

Der Vartanian, A., Quétin, M., Michineau, S., Auradé, F., Hayashi, S., Dubois, C., Rocancourt, D., Drayton-Libotte, B., Szegedi, A., Buckingham, M., Conway, S. J., Gervais, M. & Relaix, F., Jun 6 2019, In : Cell Stem Cell. 24, 6, p. 958-973.e9

Research output: Contribution to journalArticle

8 Scopus citations

Periostin-expressing cell-specific transforming growth factor-β inhibition in pulmonary artery prevents pulmonary arterial hypertension

Seki, M., Furukawa, N., Koitabashi, N., Obokata, M., Conway, S. J., Arakawa, H. & Kurabayashi, M., Aug 1 2019, In : PloS one. 14, 8, e0220795.

Research output: Contribution to journalArticle

Open Access

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F. & 9 others, Baralle, D., Mancini, G. M. S., Conway, S. J., Xia, F., Chen, Z., Meng, L., Mihajlovic, L., Marmorstein, R. & Lyon, G. J., Sep 1 2019, In : Human molecular genetics. 28, 17, p. 2900-2919 20 p.

Research output: Contribution to journalArticle

9 Scopus citations

Protective Effects of Activated Myofibroblasts in the Pressure-Overloaded Myocardium Are Mediated Through Smad-Dependent Activation of a Matrix-Preserving Program

Russo, I., Cavalera, M., Huang, S., Su, Y., Hanna, A., Chen, B., Shinde, A. V., Conway, S. J., Graff, J. & Frangogiannis, N. G., Apr 12 2019, In : Circulation research. 124, 8, p. 1214-1227 14 p.

Research output: Contribution to journalArticle

18 Scopus citations

Serotonin-Mediated Cardiac Analgesia via Ah-Type Baroreceptor Activation Contributes to Silent Angina and Asymptomatic Infarction

Wen, X., Yu, X., Huo, R., Yan, Q. X., Wu, D., Feng, Y., Li, Y., Sun, X., Li, X. Y., Sun, J., Li, K. X., Li, Q. Y., Han, L. M., Lu, X. L., Liu, Y., Shou, W. & Li, B. Y., Jul 15 2019, In : Neuroscience. 411, p. 150-163 14 p.

Research output: Contribution to journalArticle

Small-conductance calcium-activated potassium current modulates the ventricular escape rhythm in normal rabbit hearts

Wan, J., Chen, M., Wang, Z., Everett, T. H., Rubart-von der Lohe, M., Shen, C., Qu, Z., Weiss, J. N., Boyden, P. A. & Chen, P. S., Apr 2019, In : Heart Rhythm. 16, 4, p. 615-623 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

The current state of biomarker research for Friedreich's ataxia: A report from the 2018 FARA biomarker meeting

Blair, I. A., Farmer, J., Hersch, S., Larkindale, J., Lynch, D. R., Napierala, J., Napierala, M., Payne, R. M. & Subramony, S. H., 2019, In : Future Science OA. 5, 6, FSO398.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

The impact of cardiovascular genetic counseling on patient empowerment

Ison, H. E., Ware, S. M., Schwantes-An, T. H., Freeze, S., Elmore, L. & Spoonamore, K. G., Jun 2019, In : Journal of Genetic Counseling. 28, 3, p. 570-577 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

Twist1 inactivation in Dmp1-expressing cells increases bone mass but does not affect the anabolic response to sclerostin neutralization

Lewis, K. J., Choi, R. B. J., Pemberton, E. Z., Bullock, W. A., Firulli, A. B. & Robling, A. G., Sep 2019, In : International journal of molecular sciences. 20, 18, 4427.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2018

2017 Riley Heart Center Symposium on Cardiac Development: Development and Repair of the Ventricular Wall

Field, L. J., Shou, W. & Markham, L., Aug 1 2018, In : Pediatric Cardiology. 39, 6, p. 1067-1068 2 p.

Research output: Contribution to journalArticle

Calcium/calmodulin-dependent protein kinase II regulation of IKs during sustained β-adrenergic receptor stimulation

Shugg, T., Johnson, D. E., Shao, M., Lai, X., Witzmann, F., Cummins, T. R., Rubart-Von-der Lohe, M., Hudmon, A. & Overholser, B. R., Jun 2018, In : Heart Rhythm. 15, 6, p. 895-904 10 p.

Research output: Contribution to journalArticle

5 Scopus citations

Chemopreventative celecoxib fails to prevent schwannoma formation or sensorineural hearing loss in genetically engineered murine model of neurofibromatosis type 2

Wahle, B. M., Hawley, E. T., He, Y., Smith, A. E., Yuan, J., Masters, A. R., Jones, D. R., Gehlhausen, J. R., Park, S. J., Conway, S. J., Clapp, D. W. & Yates, C. W., 2018, In : Oncotarget. 9, 1, p. 718-725 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Concomitant SK current activation and sodium current inhibition cause J wave syndrome

Chen, M., Xu, D. Z., Wu, A. Z., Guo, S., Wan, J., Yin, D., Lin, S. F., Chen, Z., Rubart-von der Lohe, M., Everett, T. H., Qu, Z., Weiss, J. N. & Chen, P. S., Nov 15 2018, In : JCI Insight. 3, 22

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Constitutive overexpression of periostin delays wound healing in mouse skin

Nunomura, S., Nanri, Y., Ogawa, M., Arima, K., Mitamura, Y., Yoshihara, T., Hasuwa, H., Conway, S. J. & Izuhara, K., Jan 1 2018, In : Wound Repair and Regeneration. 26, 1, p. 6-15 10 p.

Research output: Contribution to journalArticle

3 Scopus citations

Control of cardiac jelly dynamics by NOTCH1 and NRG1 defines the building plan for trabeculation

del Monte-Nieto, G., Ramialison, M., Adam, A. A. S., Wu, B., Aharonov, A., D’uva, G., Bourke, L. M., Pitulescu, M. E., Chen, H., de la Pompa, J. L., Shou, W., Adams, R. H., Harten, S. K., Tzahor, E., Zhou, B. & Harvey, R. P., Jan 1 2018, In : Nature. 557, 7705, p. 439-471 33 p.

Research output: Contribution to journalArticle

33 Scopus citations

Deletion of the glucocorticoid receptor chaperone FKBP51 prevents glucocorticoid-induced skin atrophy

Baida, G., Bhalla, P., Yemelyanov, A., Stechschulte, L. A., Shou, W., Readhead, B., Dudley, J. T., Sánchez, E. R. & Budunova, I., Oct 1 2018, In : Oncotarget. 9, 78, p. 34772-34783 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

Design and rationale of the Fontan Udenafil Exercise Longitudinal (FUEL) trial

Pediatric Heart Network Investigators, Jul 2018, In : American Heart Journal. 201, p. 1-8 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline

Shapiro, A. J., Davis, S. D., Polineni, D., Manion, M., Rosenfeld, M., Dell, S. D., Chilvers, M. A., Ferkol, T. W., Zariwala, M. A., Sagel, S. D., Josephson, M., Morgan, L., Yilmaz, O., Olivier, K. N., Milla, C., Pittman, J. E., Leigh Anne Daniels, M., Jones, M. H., Janahi, I. A., Ware, S. M. & 10 others, Daniel, S. J., Cooper, M. L., Nogee, L. M., Anton, B., Eastvold, T., Ehrne, L., Guadagno, E., Knowles, M. R., Leigh, M. W. & Lavergne, V., Jun 15 2018, In : American journal of respiratory and critical care medicine. 197, 12, p. e24-e39

Research output: Contribution to journalArticle

67 Scopus citations