Results 131 to 140 of about 532,411 (388)

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]

, 2018
Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L, Foà, R, Giona, F, Mariani, S, Palumbo, G, Santopietro, M   +5 more
core   +1 more source

Lactoferrin treatment activates acetylcholinesterase, decreasing acetylcholine levels in non‐small cell lung cancer (NSCLC) cell culture supernatants, inhibiting cell survival

FEBS Open Bio, EarlyView.
Representation of the suggested mode of action of lactoferrin (Lf) in nonsmall cell lung cancer (NSCLC) A549 cells. Lf induces activation of caspase‐3 by activating p53 and AChE leading to decreased ACh concentrations. In turn, ACh signaling leads to activation of VEGF and AKT and blocking of caspase‐3.
Stuti Goel, Caroline Wozniak, Aya Sabri, Ben Haddad, Brooke Lopo, Alvaro Cobos, Sarah Sarofim, Jeffrey Guthrie, Deborah Heyl, Hedeel Guy Evans   +9 more
wiley   +1 more source

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease [PDF]

, 2023
Lina Fiege, İbrahim Duran, Thorsten Marquardt   +2 more
openalex   +1 more source

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

HSP70 governs permeability and mechanotransduction in primary human endothelial cells

FEBS Open Bio, EarlyView.
HSP70 chemical inhibition reduces endothelial cell proliferation and increases permeability, the latter supported by normal interendothelial junctional protein distribution. HSP70 also plays a role in shear stress response, a hemodynamic force naturally present in blood vessels and correlated with vessel protection.
Andrea Pinto‐Martinez, Everton G. Melo, Isadora C. B. Pavan, Percíllia V. S. Oliveira, Luiza B. C. T. Coimbra, Thaís L. S. Araujo   +5 more
wiley   +1 more source

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

Biologics: Targets & Therapy, 2008
Fernando C Fervenza1, Roser Torra2, David G Warnock31Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; 2Department of Nephrology, Fundació Puigvert, Barcelona, Spain; 3Division of Nephrology ...
Fernando C Fervenza, Roser Torra, David G Warnock   +2 more
doaj  

P799 The echocardiographic and clinical characteristics of Fabry patients without overt left ventricular hypertrophy but progressing despite on enzyme replacement therapy [PDF]

, 2020
S Y Lee, S H Lee, Y H Park
openalex   +1 more source

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source

Exocrine Pancreatic Insufficiency in Diabetes Mellitus: Incidence, Pathogenesis, Diagnosis and Treatment

Gastroenterologìa, 2015
The article deals with exocrine pancreatic insufficiency (EPI), which is being detected in a significant number (30–50 %) of patients with diabetes mellitus (DM) type I and II and could potentially affect the compensation of DM.
S.M. Tkach
doaj   +1 more source