Results 101 to 110 of about 61,741 (331)

Complex analysis of the national Hereditary angioedema cohort in Slovakia – Identification of 12 novel variants in SERPING1 gene

World Allergy Organization Journal
Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.
Adam Markocsy, MD, Katarina Hrubiskova, MD, Martin Hrubisko, MD, PhD, Tomas Freiberger, MD, PhD, Hana Grombirikova, MSc, Lenka Dolesova, MSc, PhD, Ludmila Slivka Vavrova, MSc, PhD, Regina Lohajova Behulova, MSc, PhD, Martina Ondrusova, MSc, PhD, MPH, Peter Banovcin, MD, PhD, Karolina Vorcakova, MD, PhD, Milos Jesenak, MD, MSc, PhD, MBA, MHA, FAAAAI   +11 more
doaj   +1 more source

SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion. [PDF]

, 2013
The secretory pathway of eukaryotic cells packages cargo proteins into COPII-coated vesicles for transport from the endoplasmic reticulum (ER) to the Golgi.
Adams, Elizabeth, Bai, Yongsheng, Baines, Andrea, Bajaj, Kanika, Chen, Xiao-Wei, Ginsburg, David, Lin, Jiandie, Liu, Hui-Hui, Ma, Danjun, Meng, Zhuo-Xian, Sartor, Maureen A, Schekman, Randy, Wang, He, Yi, Zhengping, Young, Stephen G, Yu, Genggeng, Zhang, Bin, Zhang, Pengcheng   +17 more
core   +1 more source

QBP1 Peptide as a Potential Anti‐Amyloidogenic Therapy for Type 2 Diabetes: An In Vitro Study

Advanced Science, EarlyView.
The anti‐amyloidogenic peptide QBP1 effectively halts human islet amyloid polypeptide (hIAPP) aggregation, preventing the formation of toxic β‐structured intermediates. Through a combination of biophysical assays, molecular dynamics, and cell‐based studies, QBP1 is shown to preserve β‐cell viability and metabolic homeostasis, positioning it as a ...
María M. Tejero‐Ojeda, Ada Bernaus Vives, Michał Wojciechowski, Dinh Quoc Huy Pham, Mateusz Chwastyk, Mario Vallejo, Anna Novials, Douglas V. Laurents, Mariano Carrión‐Vázquez   +8 more
wiley   +1 more source

Toll-Like Receptor 4 Modulates Small Intestine Neuromuscular Function through Nitrergic and Purinergic Pathways [PDF]

, 2017
Objective: Toll-like receptors (TLRs) play a pivotal role in the homeostatic microflora-host crosstalk. TLR4-mediated modulation of both motility and enteric neuronal survival has been reported mainly for colon with limited information on the role of ...
Cecilia Giulivi, Cecilia Giulivi, Eleonora Napoli, Francesca Galuppini, Genny Orso, Ilaria Marsilio, Isabella Lante, Maria Cecilia Giron, Massimo Rugge, Mona Roozfarakh, Silvia Cerantola, Silvia Cerantola, Valentina Caputi   +12 more
core   +3 more sources

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, EarlyView.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]

, 2017
open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.

core   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Flux control of cytochrome c oxidase in human skeletal muscle [PDF]

, 2000
In the present work, by titrating cytochrome c oxidase (COX) with the specific inhibitor KCN, the flux control coefficient and the metabolic reserve capacity of COX have been determined in human saponin-permeabilized muscle fibers. In the presence of the
Attardi, Giuseppe, Elger, Christian E., Kudin, Alexei, Kunz, Wolfram S., Vielhaber, Stefan, Villani, Gaetano   +5 more
core   +1 more source

Autoimmune C1-inhibitor deficiency [PDF]

Clinical and Experimental Immunology, 1996
K, Whaley, R B, Sim, S, He
openaire   +2 more sources

Pathogenetic and Clinical Aspects of C1 Inhibitor Deficiency

Immunobiology, 1998
People deficient in C1-INH present recurrent angioedema localized to subcutaneous or mucous tissues. The defect can be caused by impaired synthesis, due to a genetic defect (hereditary angioedema), or by increased catabolism (acquired angioedema). In our experience the majority of patients with acquired angioedema (16 of 18) have autoantibodies to C1 ...
M. Cicardi, L. Bergamaschini, M. Cugno, A. Beretta, L. Zingale, M. Colombo, A. Agostoni   +6 more
openaire   +2 more sources