Results 91 to 100 of about 249,219 (350)

Pancreas Cancer-Associated Weight Loss. [PDF]

, 2019
Unintentional weight loss in patients with pancreatic cancer is highly prevalent and contributes to low therapeutic tolerance, reduced quality of life, and overall mortality.
Denlinger, Crystal S, Hendifar, Andrew E, Matrisian, Lynn M, Petzel, Maria QB, Picozzi, Vincent J, Precision Promise Consortium, Rahib, Lola, Zimmers, Teresa A   +7 more
core  

Current trends in single‐cell RNA sequencing applications in diabetes mellitus

FEBS Open Bio, EarlyView.
Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian, Khodakaram Jahanbin, Shekoofeh Nikooei, Marzieh Rostaminejad, Arezoo Rahimi, Pedram Abdizadeh, Behnam Alipoor   +6 more
wiley   +1 more source

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas.
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel   +7 more
doaj  

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +1 more source

Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]

, 2019
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N, Bembi , B, Bright, J, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Kuter, David, Lukina, EA, Machaczka, M, Mehta, Atul, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri , B, Pastores, G, Pérez-López, J, Ramaswami, U, Salek, Mir-Saeed Shayegan, Schwartz, IV, Szer, J, Vom Dahl, S, Weinreb, NJ, Zimran, A   +24 more
core   +6 more sources

An efficient strategy for producing RNA‐free Nucleocapsid protein of SARS‐CoV‐2 for biochemical and structural investigations

FEBS Open Bio, EarlyView.
Cleavable N‐terminal Thioredoxin fusion enabled soluble expression and purification of otherwise insoluble SARS‐CoV‐2 Nucleocapsid (N) protein. A four‐step purification strategy yielded highly homogeneous, RNA‐free N protein. Binding assays showed high RNA affinity (Kd ~ 28 nm). The study will facilitate high‐resolution structural studies of N protein,
Shweta Singh, Gagan D. Gupta
wiley   +1 more source

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]

, 2017
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I, Burton, Barbara K, Decker, Celeste, Geberhiwot, Tarekegn, Harmatz, Paul R, Hendriksz, Christian J, Jameson, Elisabeth, Jester, Andrea, Mengel, Eugen, Muschol, Nicole, Sisic, Zlatko, Treadwell, Marsha   +11 more
core   +1 more source

Identification of amino acids essential for angulin‐1/3 binding of the tricellular tight junction binder, angubindin‐1

FEBS Open Bio, EarlyView.
Angubindin‐1 binds angulin‐1/‐3 at tricellular tight junctions, enhancing intestinal macromolecule permeation. Alanine scanning identified six essential residues (L562, L598, E638, V640, Y643, and K644) of angubindin‐1 critical for binding to angulin‐1/‐3 and permeation‐enhancing activity, providing insights for the development of targeted noninvasive ...
Taiki Kuzu, Yumi Iwashita, Keisuke Tachibana, Itsuki Nishino, Yuki Niwa, Atsuko Uyeda, Kazuki Matsuo, Masahiro Nagahama, Masuo Kondoh   +8 more
wiley   +1 more source

Interplay between RNA‐protein interactions and RNA structures in gene regulation

FEBS Open Bio, EarlyView.
Methodological advances in mapping transcriptome‐wide RNA‐protein interactions and RNA structures have started to uncover the potential of RNP conformations in gene regulation. Competing RNA–RNA, RNA‐protein and protein–protein interactions shape the compaction and function of RNPs throughout their lifetime and may provide novel therapeutic targets in ...
Jenni Rapakko, Mauro Scaravilli, Minna‐Liisa Änkö   +2 more
wiley   +1 more source

Enzyme replacement therapy in paediatric patients affected by Anderson-Fabry disease leads to improvement in arterial elasticity, but not normalization

Journal of Pediatric and Neonatal Individualized Medicine, 2017
Introduction: Increase in blood pressure, probably due to an impairment in arterial elasticity, is frequent in patients affected by Anderson-Fabry disease (FD).
Pier Paolo Bassareo, Claudio Barbanti, Andrea Raffaele Marras, Giuseppe Mercuro   +3 more
doaj   +1 more source