Genetic Factors Associated With Pulmonary Vascular Disease

Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension

Sarasa Isobe, Ramesh V. Nair, Helen Y. Kang, Lingli Wang, Jan-Renier Moonen, Tsutomu Shinohara, Aiqin Cao1, Shalina Taylor, Shoichiro Otsuki, David P. Marciano, Rebecca L. Harper, Mir S. Adil, Chongyang Zhang, Mauro Lago-Docampo, Jakob Körbelin, Jesse M. Engreitz, Michael P. Snyder, Marlene RabinovitchLucile Packard Children’s Hospital and Stanford University School of Medicine. University Medical Center

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Causes of death in individuals with trisomy 18 after the first year of life

Justin M. Mehl, Jonathan Gelfond, John C. Carey, Jannine D. CodyUniversity of Texas Health Science Center, San Antonio. University of Utah. The Chromosome 18 Registry and Research Society.United States American Journal of Medical Genetics Part AAm J Med Genet A 2023; DOI: 10.1002/ajmg.a.63436 AbstractMortality in individuals with trisomy 18 has significantly decreased over the past 20

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A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Katarzyna Bzdega, Mateusz Biela, Gail H. Deutsch, Joseph A. Kitzmiller, Malgorzata Rydzanicz, Rafal Ploski, Jeffrey A. Whistsett, Robert Smigiel, Justyna A. KarolakPoznan University of Medical Sciences. Wroclaw Medical University. University of Washington School of Medicine. Cincinnati Childrens Hospital Medical Center. Medical University of Warsaw. Poland and United States Clinical GeneticsClin Genet 2023; DOI: 10.1111/cge.14428 AbstractCongenital alveolar

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BMPR2 variant may be related to pulmonary hypertension after lung irradiation

Masako Harada, Ai Yamada, Shun Nagasawa, Naoto Yamashita, Mariko Kinoshita, Koh-Ichiro Yoshiura, Hiroshi MoritakeUniversity of Miyazaki. Nagasaki University. Japan Pediatrics InternationalPediatr Int 2023; 65DOI: 10.1111/ped.15652 AbstractNo Abstract Available CategoryGenetic Factors Associated with Pulmonary Vascular DiseaseEnvironmental Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease Fresh or Filed Publication:

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Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype

Elizabeth S. Doughty, Christian Norvik, Alice Levin, Jenna Bodmer, Karin Tran-Lundmark, Steven H. Abman, Csaba GalambosThe University of Colorado and Children’s Hospital Colorado. Lund University and Wallenberg Center for Molecular Medicine.United States and Sweden Pediatric and Developmental PathologyPediatr and Dev Pathol 2023; DOI: 10.1177/10935266231199933 AbstractTbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway

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Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension

Hidehiro Suginobe, Hidekazu Ishida, Yoichiro Ishii, Kazutoshi Ueda, Chika 5 Yoshihara, Atsuko Ueyama, Renjie Wang, Hirofumi Tsuru, Kazuhisa Hashimoto, Masaki Hirose, Ryo Ishii, Jun Narita, Yasuji Kitabatake, Keiichi OzonoOsaka University Graduate School of Medicine. Osaka Children’s and Women’s Hospital. Niigata University School of Medicine.Japan Human Molecular GeneticsHum Mol Genet 2023; DOI: 10.1093/hmg/ddad162 AbstractDown syndrome (DS) is

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension Read More »

Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care

Ronald W. Day, Benjamin F. CallUniversity of Utah and Primary Children’s Hospital. Portneuf Cardiology.United States Rare Disease and Orphan Drugs JournalRare Dis Orphan Drugs J 2023; DOI: 10.20517/rdodj.2023.12 AbstractA range of pulmonary arterial pressures was observed in three related patients with Cantú syndrome. The incident patient developed a moderately high pulmonary vascular resistance. Several factors

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Yield of genetic evaluation in non-syndromic pediatric moyamoya patients

Anna L. Slingerland, Dylan S. Keusch, Laura L. Lehman, Edward R. Smith, Siddharth Srivastava, Alfred P. SeeBoston Children’s Hospital and Harvard Medical School.United States Child’s Nervous SystemChilds Nerv Syst 2023; DOI: 10.1007/s00381-023-06167-w AbstractPurpose: Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya

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Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome

Daisuke Kobayashi, Amanda L. Cook, Derek A. WilliamsWake Forest University School of Medicine.United States Pediatric PulmonologyPediatr Pulmonol 2010; 5: 727-729DOI: 10.1002/ppul.21215 AbstractWe report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial effusion in infancy and was subsequently found to have partial pulmonary venous obstruction (PVO) leading to pulmonary

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Identification of the shared gene signatures between pulmonary fibrosis and pulmonary hypertension using bioinformatics analysis

Hui Zhao, Lan Wang, Yi Yan, Qin-Hua Zhao, Jing He, Rong Jiang, Ci-Jun Luo, Hong-Ling Qiu, Yu-Qing Miao, Su-Gang Gong, Ping Yuan, Wen-Hui WuShanghai Pulmonary Hospital and Tongji University. University of Shanghai for Science and Technology. Shanghai Children’s Medical Center and Shanghai Jiao Tong University.China Frontiers in ImmunologyFront Immunol 2023; DOI: 10.3389/fimmu.2023.1197752 AbstractPulmonary fibrosis (PF) and

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