Genetic Factors Associated With Pulmonary Vascular Disease

LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17

Tariq Al Jabry, Nadia Al-Hashmi, Basem Abdelhadi, Almundher Al-MaawaliSultan Qaboos University Hospital. Royal Hospital.Oman European Journal of Medical GeneticsEir J Med Genet 2023;DOI: 10.1016/j.ejmg.2023.104903 AbstractLRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at […]

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Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome

Aaron R. Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E. RobertsBoston Children’s Hospital. Brigham and Women’s Hospital. American Board of Medical Specialties.United States Congenital Heart DiseaseCongenit Heart Dis 2017; 12: 475-483DOI: 10.1111/chd.12471 AbstractObjective: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis

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The novel roles of YULINK in the migration, proliferation and glycolysis of pulmonary arterial smooth muscle cells: implications for pulmonary arterial hypertension

Yi‑Chia Wu, Wei‑Ting Wang, Ming‑Chun Yang, Yu‑Tsun Su, Jwu‑Lai Yeh, Jong‑Hau Hsu, Jiunn‑Ren WuKaohsiung Medical University Hospital and Kaohsiung Medical University. Kaohsiung Municipal Ta-Tung Hospital. E-Da Hospital and I-Shou University.Taiwan Biological ResearchBiol Res 2023; DOI: 10.1186/s40659-023-00480-z AbstractBackground: Abnormal remodeling of the pulmonary vasculature, characterized by the proliferation and migration of pulmonary arterial smooth muscle cells (PASMCs) along

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Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Przemyslaw Szafranski, Silvia Patrizi, Thomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A. Karolak, Gail Deutsch, Drucilla Roberts, Pawel StankiewiczBaylor College of Medicine. Brigham and Women’s Hospital, Newton-Wellesley Hospital and Harvard Medical School. Warsaw University of Technology. Massachusetts General Hospital.  Poznan University of Medical Sciences. University of Washington School of Medicine.United States and Poland Pediatric and

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Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant

Yohan Soreze, Nadia Nathan, Julien Jegard, Erik Hervieux, Pauline Clermidi, Chiara Sileo, Camille Louvrier, Marie Legendre, Aurore Coulomb L’HermineTrousseau Hospital and AP-HP – Sorbonne Université. Sorbonne Université and Armand Trousseau Hospital. Nantes University Hospital. France NeonatologyNeonatology 2023; DOI: 10.1159/000534076 AbstractAcinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription

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Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations

Elissa R. Engel, Katie Wusik, Philip Bright, Sudhakar Vadivelu, J. Michael Taylor, Adrienne HammelUniversity of Cincinnati College of Medicine and Cincinnati Children’s Hospital Medical Center. University of Kentucky College of Medicine.United States Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113761 AbstractObjective: To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome

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Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Mordechai Pollak, Dvir Gatt, Michelle Shaw, Sheryl Hewko, Anthony Lamanna, Sara Santos, Felix RatjenHospital for Sick Children and Ruth Rappaport Children’s Hospital.Canada Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113665 AbstractObjective: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT).Study design: This was a single-center, retrospective analysis of patients

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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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