Genetic Factors Associated With Pulmonary Vascular Disease

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro MussaUniversity of Turin. Regina Margherita Children’s Hospital. […]

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant Read More »

Phenotypic characterisation of SMAD4 variant carriers

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known

Phenotypic characterisation of SMAD4 variant carriers Read More »

Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature

Wedad Alhazmia, Afnan Qurbana, Essa AlrashidiMaternity and Children Hospital in Makkah. King Saud Medical City in Riyadh.Saudi Arabia Respiratory Medicine Case ReportsRespir Med Case Rep 2023; 44:DOI: 10.1016/j.rmcr.2023.101872 AbstractBackground: The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph

Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature Read More »

A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation

Akiko Kitano, Masato Nakaguro, Seiichi Tomotaki, Shintaro Hanaoka, Masahiko Kawai, Akiko Saito, Masahiro Hayakawa, Yoshiyuki Takahashi, Hidenori Kawasaki, Takahiro Yamada, Masahiko Ikeda, Tetsuo Onda, Kazutoshi Cho, Hironori Haga, Atsuko Nakazawa, Sachiko MinamiguchiKyoto University and Kyoto University Hospital. Nagoya University Graduate School of Medicine and Nagoya University Hospital. Hokkaido University Hospital. Saitama Children’s Medical Center.Japan Diagnostic

A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation Read More »

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

Sietse M. Aukema, Gerdien A. ten Brinke, Wim Timens, Yvonne J. Vos, Ryan E. Accord, Karianne E. Kraft, Michiel J. Santing, Leonard P. Morssink, Esther Streefland, Cleo C. van Diemen, Elianne JLE Vrijlandt, Christian V. Hulzebos, Wilhelmina S. Kerstjens-FrederikseUniversity of Groningen, University Medical Center Groningen and Beatrix Children’s Hospital. Medical Center Leeuwarden. Netherlands American Journal

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis Read More »

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Martina Caiazza, Michelina Sibilio, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe LimongelliUniversity of Campania “Luigi Vanvitelli” and Monaldi Hospital. University College of London and St. Bartholomew’s Hospital.Italy and United Kingdom GenesGenes

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation Read More »

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease Read More »

Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country

Mohd Nizam Mat Bah, Mohd Hanafi Sapian, Mohd Hazman Mohd Anuar, Emieliyuza Yusnita AliasHospital Sultanah Aminah.Malaysia Annals of Pediatric CardiologyAnn Pediatr Cardiol 2023; 16: 322-330DOI: 10.4103/apc.apc_130_23 AbstractBackground and aims: Limited data on the survival and outcomes of ventricular septal defect (VSD) in middle-income countries are available. Hence, this study aims to determine the survival and factors associated

Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country Read More »

Effect of Estrogen Receptor Alpha on Cardiopulmonary Adaptation to Chronic Developmental Hypoxia in a Rat Model

Nicholas T. Severyn, Patricia Esparza, Huanling Gao, Elizabeth A. Mickler, Marjorie E. Albrecht, Amanda Fisher, Bakhtiyor Yakubov, Todd G. Cook, James E. Slaven, Avram D. Walts, Robert S. Tepper, Tim LahmUniversity of Kentucky. Indiana University – Purdue University Indianapolis. University of Colorado. National Jewish Health.United States American Journal of Physiology Lung Cellular and Respiratory PhysiologyAm

Effect of Estrogen Receptor Alpha on Cardiopulmonary Adaptation to Chronic Developmental Hypoxia in a Rat Model Read More »

Dynamically stiffening biomaterials reveal age- and sex-specific differences in pulmonary arterial adventitial fibroblast activation

Mikala C. Mueller, Yanmei Du, Lori A. Walker, Chelsea M. MaginUniversity of Colorado, Anschutz Medical Campus.United States Matrix Biology PlusMatrix Biol Plus 2024; DOI: 10.1016/j.mbplus.2024.100145 AbstractRespiratory diseases like pulmonary arterial hypertension (PAH) frequently exhibit sexual dimorphism. Female PAH patients are more susceptible to the disease but have increased survival rates. This phenomenon is known as the

Dynamically stiffening biomaterials reveal age- and sex-specific differences in pulmonary arterial adventitial fibroblast activation Read More »

Scroll to Top