Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 34 of 38

Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant

Motaharehsadat Heydarian, Prajakta Oak, Xin Zhang, Nona Kamgari, Alida Kindt, Markus Koschlig, Tina Pritzke, Erika Gonzalez- Rodriguez, Kai Förster, Rory E Morty, Friederike Häfner, Christoph Hübener, Andreas W Flemmer, Ali Oender Yildirim, Deepti Sudheendra, Xuefei Tian, Agnese Petrera, Holger Kirsten, Peter Ahnert, Nick Morrell, Tushar J Desai, Jennifer Sucre, Edda Spiekerkoetter, Anne HilgendorffHelmholtz Zentrum München. […]

Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant Read More »

Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes

Tatyana Baranova, Ekaterina Podyacheva, Tatyana Zemlyanukhina, Dmitrii Berlov, Maria Danilova, Oleg Glotov, Andrey GlotovSaint Petersburg State University. D.O. Ott’s Institute of Obstetrics. Pediatric Research and Clinical Center for Infectious Diseases.Russia International Journal of Molecular SciencesInt J Mol Sci 2022; 23: DOI: 10.3390/ijms23169433 AbstractThe diving reflex is an oxygen-saving mechanism which is accompanied by apnea, reflex bradycardia

Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes Read More »

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling YangPeking University First Hospital. Peking University People’s Hospital. Beijing Children’s Hospital Affiliated to Capital Medical University. China-Japan Friendship Hospital. First

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment Read More »

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang WangPeking University First Hospital.China Frontiers in PediatricsFront Pediatr 2023; DOI: 10.3389/fped.2022.1057594 AbstractObjective: CblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency Read More »

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major

Azza Abdel Gawad Tantawy, Mourad Alfy Ramzy Tadros, Amira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A. Ibrahim, Nanis Mohammed Salah Eldin, Mahitab Morsy Hussein, Mervat Abdalhameed Alfeky, Sarah Mohammed Ibrahim, Marwa Adel Hashem, Fatma Soliman Elsayed EbeidAin Shams University. Military Medical Services and Military Medical Academy.Egypt CytokineCytokine 2023; 161: DOI: 10.1016/j.cyto.2022.156048 AbstractBackground: Endothelin-1 (ET-1), a potent endogenous vasoconstrictor, stimulates production of reactive oxygen species. Endothelial monocyte-activating polypeptide-II (EMAP-II) is a multifunctional polypeptide.Aim: To assess ET-1 gene polymorphism

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major Read More »

Hemodynamic Characteristics After Fontan Procedure in Patients with Down’s Syndrome

Masakazu Otsuka, Yoshihiko Kodama, Ayako Kuraoka, Yuichi Ishikawa, Makoto Nakamura, Toshihide Nakano, Hideaki Kado, Shintaro Umemoto, Ayako Ishikita, Ichiro Sakamoto, Tomomi Ide, Hiroyuki Tsutsui, Koichi SagawaFukuoka Children’s Hospital. Kyushu University Hospital.Japan Pediatric CardiologyPediatr Cardiol 2022; 43: 360-365DOI: 10.1007/s00246-021-02727-6 AbstractPatients with Down’s syndrome (DS) are generally regarded as not being good candidates for the Fontan procedure. However,

Hemodynamic Characteristics After Fontan Procedure in Patients with Down’s Syndrome Read More »

Identification of the Key Pathways and Genes in Hypoxia Pulmonary Arterial Hypertension Following Intrauterine Growth Retardation

Weifen Zhu, Ziming Zhang, Weiwei Gui, Zheng Shen, Yixin Chen, Xueyao Yin, Li Liang, Lin LiThe Affiliated Sir Run Run Shaw Hospital, Children’s Hospital and The First Affiliated Hospital of Zhejiang University.China Frontiers in Molecular BiosciencesFront Mol Biosci 2022; DOI: 10.3389/fmolb.2022.789736 AbstractHigh-throughput sequencing and weighted gene co-expression network analysis (WGCNA) were used to identify susceptibility modules

Identification of the Key Pathways and Genes in Hypoxia Pulmonary Arterial Hypertension Following Intrauterine Growth Retardation Read More »

Identification of SOX2 Interacting Proteins in the Developing Mouse Lung With Potential Implications for Congenital Diaphragmatic Hernia

Kim A. A. Schilders, Gabriëla G. Edel, Evelien Eenjes, Bianca Oresta, Judith Birkhoff, Anne Boerema-de Munck, Marjon Buscop-van Kempen, Panagiotis Liakopoulos, Petros Kolovos, Jeroen A. A. Demmers, Raymond Poot, Rene M. H. Wijnen, Dick Tibboel and Robbert J. RottierErasmus Medical Center and Sophia Children’s Hospital. Democritus University of Thrace. Netherlands and Greece Frontiers in PediatricsFront

Identification of SOX2 Interacting Proteins in the Developing Mouse Lung With Potential Implications for Congenital Diaphragmatic Hernia Read More »

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Anita Kaw, Kaveeta Kaw, Ellen M. Hostetler, Ana Beleza-Meireles, Adam Smith-Collins, Catherine Armstrong, Ingrid Scurr, Timothy Cotts, Rajani Aatre, Michael J. Bamshad, Dawn Earl, Abraham Groner, Katherine Agre, Yehuda Raveh, Callie S. Kwartler, Dianna M. MilewiczMcGovern Medical School, University of Texas Health Science Center at Houston. St Michael’s Hospital. Bristol Royal Hospital for Children. University

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome Read More »