Results 161 to 170 of about 402,863 (300)
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
The COCOS-IPF core outcome set for idiopathic pulmonary fibrosis/progressive pulmonary fibrosis care: a mixed-method multi-perspective approach. [PDF]
Breuls S +15 more
europepmc +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
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
Lactylation in pulmonary fibrosis: current understanding and challenges. [PDF]
Li B +5 more
europepmc +1 more source
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh +34 more
wiley +1 more source
Targeting the epithelium in pulmonary fibrosis. [PDF]
Lizé M +21 more
europepmc +1 more source
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
Beyond inflammation: alarmins as critical drivers of pulmonary fibrosis. [PDF]
Pianigiani T +8 more
europepmc +1 more source
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang +3 more
wiley +1 more source

