Results 101 to 110 of about 424,413 (258)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Unraveling AURKB as a potential therapeutic target in pulmonary hypertension using integrated transcriptomic analysis and pre-clinical studies

Cell Reports Medicine
Summary: Despite advances in treatment, the prognosis for patients with pulmonary arterial hypertension (PAH) remains dismal, highlighting the need for further therapeutic advances. By using RNA sequencing on pulmonary artery smooth muscle cells (PASMCs),
Sarah-Eve Lemay, Manon Mougin, Mélanie Sauvaget, Reem El Kabbout, Chanil Valasarajan, Keiko Yamamoto, Sandra Martineau, Andréanne Pelletier, Coralie Bilodeau, Yann Grobs, Alice Bourgeois, Charlotte Romanet, Sandra Breuils-Bonnet, Monica S. Montesinos, Min Lu, Huidong Chen, Mégan Gilbert, Charlie Théberge, François Potus, Soni Pullamsetti, Steeve Provencher, Sébastien Bonnet, Olivier Boucherat   +22 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Dasatinib‐Induced Pulmonary Arterial Hypertension in Chronic Myeloid Leukaemia: A Case Report and Literature Review

Respirology Case Reports
Dasatinib, a second‐generation tyrosine kinase inhibitor used for treating chronic myeloid leukaemia (CML), is associated with rare but significant adverse effects, including pulmonary arterial hypertension.
Sathish Krishnan, Sashi Adigopula
doaj   +1 more source

Ischemia-reperfusion injury with a model of porcine whole-blood ex-vivo lung perfusion

Frontiers in Transplantation
IntroductionOur objective was to model Ischemia-Reperfusion (IR) injuries by ex-vivo perfusion of porcine lungs with whole blood containing the inflammatory cells.MethodsLungs and whole blood were collected from 12 pigs and submitted to cold ischemia ...
Jean-Baptiste Menager, Jean-Baptiste Menager, Jean-Baptiste Menager, Julia Mercier, Julia Mercier, Justin Issard, Justin Issard, Justin Issard, Maria-Rosa Ghigna, Maria-Rosa Ghigna, Maria-Rosa Ghigna, Jeanne Tran Van Nhieu, Benoit Decante, Benoit Decante, Julien Guihaire, Julien Guihaire, Elie Fadel, Elie Fadel, Elie Fadel, Fabrice Antigny, Fabrice Antigny, Olaf Mercier, Olaf Mercier, Olaf Mercier   +23 more
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Allergic Rhinitis Amplifies Asthma Risk in Patients With Chronic Rhinosinusitis: A Large‐Scale Retrospective Cohort Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and allergic rhinitis (AR) are two highly prevalent airway diseases in the United States. While the coexistence of CRS and asthma is well recognized, less is known about the development of new‐onset asthma in CRS, particularly in the context of comorbid AR. This study assessed the impact of CRS and AR on
Austin J. Lee, Mohamad R. Chaaban
wiley   +1 more source

Protein biomarkers in pulmonary arterial hypertension: advances, clinical relevance, and translational challenges

Journal of Translational Medicine
Pulmonary arterial hypertension (PAH) is a progressive and life-threatening disease characterized by pulmonary vasoconstriction and right ventricular dysfunction.
Yanqin Niu, Jinglin Tian, Steeve Provencher, Sebastien Bonnet, Olivier Boucherat, François Potus, Deming Gou   +6 more
doaj   +1 more source

Rare cause of pulmonary hypertension - pulmonary tumour thrombotic microangiopathy. [PDF]

BMJ Case Rep, 2019
O'Brien J, Jones N, Horrigan M, Al-Kaisey AM.   +3 more
europepmc   +1 more source

Tezepelumab in Chinese Patients With Severe Chronic Rhinosinusitis With Nasal Polyps: A Prespecified Subgroup Analysis of the Phase 3 WAYPOINT Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) in Chinese patients often exhibits a mixed Type 1/2/3 inflammatory phenotype (63%), potentially impacting the efficacy of biologics targeting Type 2 inflammation. This prespecified subgroup analysis of WAYPOINT (NCT04851964) evaluated the efficacy and safety of tezepelumab in Chinese
Li Hu, Houyong Li, Xicai Sun, Quan Liu, Yu Xu, Jiangang Fan, Andrew Foster, Claudia Chen, Yun Chon, Dehui Wang   +9 more
wiley   +1 more source