Results 151 to 160 of about 111,374 (272)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Primary cardiac T‐cell rich large B‐cell lymphoma causing aortic stenosis with metastasis in a Warmblood

Equine Veterinary Education, EarlyView.
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, F. Z. X. Lean, H. M. Martineau, B. Dunkel, J. Reed   +4 more
wiley   +1 more source

A guide to the types, structures, and multifaceted functions of matrix metalloproteinases in cancer

The FEBS Journal, EarlyView.
Matrix metalloproteinases (MMPs) orchestrate cancer progression and metastasis through proteolytic and non‐proteolytic actions. By remodeling the tumor microenvironment, enhancing growth factor availability, and modulating cell behavior, MMPs promote proliferation, migration or invasion, and epithelial‐to‐mesenchymal transition. Alongside extracellular
Zoi Piperigkou, Sylvia Mangani, Spyros Kremmydas, Nikolaos E. Koletsis, Nikos K. Karamanos   +4 more
wiley   +1 more source

Aortic Valve Stenosis in Alkaptonuria [PDF]

The Annals of Thoracic Surgery, 2017
Christos, Tourmousoglou, Nikolaos, Nikoloudakis, Antonis, Pitsis   +2 more
openaire   +2 more sources

Left Bundle Branch Area Pacing versus Deep Septal Pacing in Patients After Transcatheter Aortic Valve Replacement

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Background Left bundle branch area pacing (LBBAP) has been reported to improve long‐term clinical outcomes in patients requiring permanent pacemaker implantation (PPMI) after transcatheter aortic valve replacement (TAVR). Deep septal pacing (DSP) has emerged as a potential alternative to LBBAP.
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Requested retraction of six studies on the PK/PD and tolerability of fospropofol [PDF]

, 2010
Fechner, J, Schuttler, J, Schwilden, H, Struys, Michel   +3 more
core   +2 more sources

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Aortic Valve Stenosis: Progress from Diagnosis to Treatment. [PDF]

J Clin Med
Ossola P, Ghidini S, Gualini E, Daus F, Politi F, Ciampi C, Spoladore R, Musca F, Maloberti A, Giannattasio C.   +9 more
europepmc   +1 more source

Sutureless valves in aortic stenosis [PDF]

The Journal of Thoracic and Cardiovascular Surgery, 2014
Soppa, Gopal, Jahangiri, Marjan
openaire   +2 more sources