Results 231 to 240 of about 173,111 (298)
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Echocardiographic Assessment of Cardiac Phenotype Predicts Complications and Guides Intensive Care Management Following Pulmonary Valve Balloon Dilation in Neonates With Pulmonary Atresia/Critical Pulmonary Stenosis With Intact Ventricular Septum. [PDF]
Moras P +7 more
europepmc +1 more source
Our study demonstrated that TGF‐β1 activated MAPK signalling pathway and promoted the MMT and secretion of CCL17 under CD‐associated intestinal inflammatory conditions. AMSC‐sEVs can deliver MFGE8, which inhibits MMT and CCL17‐mediated Treg recruitment by suppressing the MAPK signalling pathway, thereby alleviating intestinal fibrosis.
Minghao Xie +6 more
wiley +1 more source
A case of truncus arteriosus with severe heart failure and pulmonary stenosis: bridge to transplant candidacy with surgical correction and a ventricular-assist device. [PDF]
Tanimoto K +8 more
europepmc +1 more source
Schematic illustration showing that FAP‐α promoted angiogenesis, cytokine release and ECM degradation in the CEP degeneration of the intervertebral disc through upregulating the PI3K/Akt/HIF‐1α/VEGFA pathway. ABSTRACT Intervertebral disc degeneration (IDD) is a primary cause of low back pain, with the development of new blood vessels being a key ...
Hao‐Wei Xu +4 more
wiley +1 more source
Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis. [PDF]
Chida-Nagai A +18 more
europepmc +1 more source
Summary A 25‐year‐old Icelandic mare diagnosed with bilateral temporohyoid‐osteoarthropathy, moderate pharyngeal instability and bilateral laryngeal paralysis was presented because of intermittent stridor and dyspnoea worsening during exercise. As a previous ceratohyoidectomy had not improved these symptoms substantially, a permanent tracheostomy was ...
D. C. Debald +3 more
wiley +1 more source
Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot +4 more
wiley +1 more source
Effects of balloon pulmonary valvuloplasty on longitudinal changes in right ventricular strain and strain rate in pediatric pulmonary stenosis. [PDF]
Ahmadi A +6 more
europepmc +1 more source

