Results 141 to 150 of about 326,807 (261)
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 +2 more
wiley +1 more source
Highlights from the ERS International Congress 2018: Assembly 13 - Pulmonary Vascular Diseases. [PDF]
ERJ Open Res, 2019 Ramjug S +8 more
europepmc +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
Update in pulmonary vascular diseases 2013. [PDF]
Am J Respir Crit Care Med, 2014 Hassoun PM, Schumacker PT.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Update in Pulmonary Vascular Diseases 2014. [PDF]
Am J Respir Crit Care Med, 2015 Goncharova EA, Gladwin MT, Kawut SM.
europepmc +1 more source
SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells
Animal Models and Experimental Medicine, EarlyView.The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang +6 more
wiley +1 more source
BJS (British Journal of Surgery), EarlyView., 2020 All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro +4 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma +7 more
wiley +1 more source
Key topics in pulmonary vascular diseases (assembly 13) from the European Respiratory Society 2018 Parisian Congress. [PDF]
J Thorac Dis, 2018 Ramjug S +2 more
europepmc +1 more source