日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants

在新生突变的背景下,常见变异会增加先天性膈疝的风险。

Qiao, Lu; Welch, Carrie L; Hernan, Rebecca; Wynn, Julia; Krishnan, Usha S; Zalieckas, Jill M; Buchmiller, Terry; Khlevner, Julie; De, Aliva; Farkouh-Karoleski, Christiana; Wagner, Amy J; Heydweiller, Andreas; Mueller, Andreas C; de Klein, Annelies; Warner, Brad W; Maj, Carlo; Chung, Dai; McCulley, David J; Schindel, David; Potoka, Douglas; Fialkowski, Elizabeth; Schulz, Felicitas; Kipfmuller, Florian; Lim, Foong-Yen; Magielsen, Frank; Mychaliska, George B; Aspelund, Gudrun; Reutter, Heiko Martin; Needelman, Howard; Schnater, J Marco; Fisher, Jason C; Azarow, Kenneth; Elfiky, Mahmoud; Nöthen, Markus M; Danko, Melissa E; Li, Mindy; Kosiński, Przemyslaw; Wijnen, Rene M H; Cusick, Robert A; Soffer, Samuel Z; Cochius-Den Otter, Suzan C M; Schaible, Thomas; Crombleholme, Timothy; Duron, Vincent P; Donahoe, Patricia K; Sun, Xin; High, Frances A; Bendixen, Charlotte; Brosens, Erwin; Shen, Yufeng; Chung, Wendy K

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

在827例先天性膈疝患者中发现的罕见和新生变异提示LONP1可能是候选风险基因。

Qiao, Lu; Xu, Le; Yu, Lan; Wynn, Julia; Hernan, Rebecca; Zhou, Xueya; Farkouh-Karoleski, Christiana; Krishnan, Usha S; Khlevner, Julie; De, Aliva; Zygmunt, Annette; Crombleholme, Timothy; Lim, Foong-Yen; Needelman, Howard; Cusick, Robert A; Mychaliska, George B; Warner, Brad W; Wagner, Amy J; Danko, Melissa E; Chung, Dai; Potoka, Douglas; Kosiński, Przemyslaw; McCulley, David J; Elfiky, Mahmoud; Azarow, Kenneth; Fialkowski, Elizabeth; Schindel, David; Soffer, Samuel Z; Lyon, Jane B; Zalieckas, Jill M; Vardarajan, Badri N; Aspelund, Gudrun; Duron, Vincent P; High, Frances A; Sun, Xin; Donahoe, Patricia K; Shen, Yufeng; Chung, Wendy K

Qualitative indications for tracheostomy and chronic mechanical ventilation in patients with severe bronchopulmonary dysplasia

重度支气管肺发育不良患者气管切开术和慢性机械通气的定性指征

Yallapragada, Sushmita; Savani, Rashmin C; Mūnoz-Blanco, Sara; Lagatta, Joanne M; Truog, William E; Porta, Nicolas F M; Nelin, Leif D; Zhang, Huayan; Vyas-Read, Shilpa; DiGeronimo, Robert; Natarajan, Girija; Wymore, Erica; Haberman, Beth; Machry, Joana; Potoka, Karin; Murthy, Karna

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

先天性膈疝患者中可能有害的新生突变与较差的临床预后相关。

Qiao, Lu; Wynn, Julia; Yu, Lan; Hernan, Rebecca; Zhou, Xueya; Duron, Vincent; Aspelund, Gudrun; Farkouh-Karoleski, Christiana; Zygumunt, Annette; Krishnan, Usha S; Nees, Shannon; Khlevner, Julie; Lim, Foong Yen; Crombleholme, Timothy; Cusick, Robert; Azarow, Kenneth; Danko, Melissa Ellen; Chung, Dai; Warner, Brad W; Mychaliska, George B; Potoka, Douglas; Wagner, Amy J; Soffer, Samuel; Schindel, David; McCulley, David J; Shen, Yufeng; Chung, Wendy K

Utility of echocardiography in predicting mortality in infants with severe bronchopulmonary dysplasia

超声心动图在预测重度支气管肺发育不良婴儿死亡率中的应用

Vyas-Read, Shilpa; Wymore, Erica M; Zaniletti, Isabella; Murthy, Karna; Padula, Michael A; Truog, William E; Engle, William A; Savani, Rashmin C; Yallapragada, Sushmita; Logan, J Wells; Zhang, Huayan; Hysinger, Erik B; Grover, Theresa R; Natarajan, Girija; Nelin, Leif D; Porta, Nicolas F M; Potoka, Karin P; DiGeronimo, Robert; Lagatta, Joanne M

Vascular TSP1-CD47 signaling promotes sickle cell-associated arterial vasculopathy and pulmonary hypertension in mice

血管 TSP1-CD47 信号促进小鼠镰状细胞相关动脉血管病和肺动脉高压

Enrico M Novelli, Lynda Little-Ihrig, Heather E Knupp, Natasha M Rogers, Mingyi Yao, Jeffrey J Baust, Daniel Meijles, Claudette M St Croix, Mark A Ross, Patrick J Pagano, Evan R DeVallance, George Miles, Karin P Potoka, Jeffrey S Isenberg, Mark T Gladwin

Nitric Oxide-Independent Soluble Guanylate Cyclase Activation Improves Vascular Function and Cardiac Remodeling in Sickle Cell Disease

一氧化氮非依赖性可溶性鸟苷酸环化酶激活可改善镰状细胞病患者的血管功能和心脏重塑

Potoka, Karin P; Wood, Katherine C; Baust, Jeffrey J; Bueno, Marta; Hahn, Scott A; Vanderpool, Rebecca R; Bachman, Tim; Mallampalli, Grace M; Osei-Hwedieh, David O; Schrott, Valerie; Sun, Bin; Bullock, Grant C; Becker-Pelster, Eva-Maria; Wittwer, Matthias; Stampfuss, Jan; Mathar, Ilka; Stasch, Johannes-Peter; Truebel, Hubert; Sandner, Peter; Mora, Ana L; Straub, Adam C; Gladwin, Mark T

Intra-amniotic Sildenafil Treatment Modulates Vascular Smooth Muscle Cell Phenotype in the Nitrofen Model of Congenital Diaphragmatic Hernia

羊膜腔内注射西地那非治疗可调节先天性膈疝硝苯模型中的血管平滑肌细胞表型

Okolo, Frances C; Zhang, Guangfeng; Rhodes, Julie; Potoka, Douglas A

The Impact of Pulmonary Hypertension in Preterm Infants with Severe Bronchopulmonary Dysplasia through 1 Year

肺动脉高压对重度支气管肺发育不良早产儿1年内的影响

Lagatta, Joanne M; Hysinger, Erik B; Zaniletti, Isabella; Wymore, Erica M; Vyas-Read, Shilpa; Yallapragada, Sushmita; Nelin, Leif D; Truog, William E; Padula, Michael A; Porta, Nicolas F M; Savani, Rashmin C; Potoka, Karin P; Kawut, Steven M; DiGeronimo, Robert; Natarajan, Girija; Zhang, Huayan; Grover, Theresa R; Engle, William A; Murthy, Karna

Mouse Genome-Wide Association Study of Preclinical Group II Pulmonary Hypertension Identifies Epidermal Growth Factor Receptor

小鼠全基因组关联研究发现,在临床前 II 组肺动脉高压中存在表皮生长因子受体

Kelly, Neil J; Radder, Josiah E; Baust, Jeffrey J; Burton, Christine L; Lai, Yen-Chun; Potoka, Karin C; Agostini, Brittani A; Wood, John P; Bachman, Timothy N; Vanderpool, Rebecca R; Dandachi, Nadine; Leme, Adriana S; Gregory, Alyssa D; Morris, Alison; Mora, Ana L; Gladwin, Mark T; Shapiro, Steven D