Results 91 to 100 of about 13,683 (245)

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

A noncanonical role for Jagged1 in endothelial mechanotransduction

The FEBS Journal, EarlyView.
This study reveals a noncanonical role for Jagged1 in endothelial mechanotransduction. Shear stress modulates Jagged1 expression and subcellular localization. Loss of Jagged1 attenuates mechanotransduction and reduces Src, VEGFR2, and ERK signaling. Direct mechanical stimulation of Jagged1 induces activation of these signaling pathways.
Freddy Suarez Rodriguez, Noora Virtanen, Elmeri Kiviluoto, Rob C. H. Driessen, Feihu Zhao, Carlijn V. C. Bouten, Oscar M. J. A. Stassen, Cecilia M. Sahlgren   +7 more
wiley   +1 more source

FEATURES OF HEMODYNAMIC DISORDERS IN PATIENTS WITH TERMINAL GLAUCOMA

Офтальмохирургия, 2015
Purpose. To study features of different vascular areas of ocular hemodynamics in patients with terminal glaucoma using the ultrasound dopplerography method in a comparative aspect with the fellow eyes without diagnosed glaucoma.Material and methods.
E. V. Egorova, O. I. Fabrikantov, S. I. Nikolashin, A. A. Drobnica   +3 more
doaj  

The art of examining and interpreting histologic preparations: a laboratory manual and study guide for histology [PDF]

, 2004
2nd ed.Rev. ed. of: Art of examining and interpreting histologic preparations : a student handbook / William J. Krause. Parthenon Pub. Group, c2001.The examination and interpretation of tissue sections seen under the light microscope in a laboratory ...
Krause, William J., II, 1942-
core  

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, EarlyView.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source

SELECTIVE AND NONSELECTIVE β-BLOCKERS IN PRIMARY OPEN ANGLE GLAUCOMA THERAPY – RESULTS OF COLOR DOPPLER SONOGRAPHY

Zdravniški Vestnik, 2002
Background. Primary open angle glaucoma (POAG) is a syndrome of progressive optic neuropathy characterized by optic nerve head excavation and visual field defects.
Vukoslava Maričić-Došen, Željka Karaman   +1 more
doaj  

Evaluation of Retrobulber Blood Flow of Primary Angle Glaucoma and Normal-tension Glaucoma with Color Doppler Ultrasonography Parameters

Bagcilar Medical Bulletin, 2018
Objective: Primary open angle glaucoma (POAG) is an important cause of blindness. Evaluation of retrobulbar hemodynamic may be helpful in determining the progression of POAG and normal tension glaucoma (NTG).
Mehmet Oncu
doaj   +1 more source

Chemotherapy-induced isolated right pan-retinal atrophy

Ibom Medical Journal, 2019
INTRODUCTION Topically applied ocular medications could be sufficiently absorbed to inflict untoward systemic consequences.1-4 Timolol, a non-selective beta blocker is capable of eliciting severe asthmatic attacks in susceptible individuals.
Megbelayin EO, Etim BA
doaj   +1 more source

Inverse correlation between endothelin-1-induced peripheral microvascular vasoconstriction and blood pressure in glaucoma patients [PDF]

, 2018
• Background: The potent vasoconstrictor peptide endothelin-I has been shown to participate in the control of peripheral vascular tone and in the regulation of ocular perfusion.
Flammer, Josef, Gass, Andreas, Gasser, Paul, Haefeli, Walter, Linder, Lilly, Romerio, Silvana   +5 more
core  

A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]

, 2015
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core   +2 more sources