Results 31 to 40 of about 806 (131)

Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.

PLoS Genetics, 2013
Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.
Gian Andri Thun, Medea Imboden, Ilaria Ferrarotti, Ashish Kumar, Ma'en Obeidat, Michele Zorzetto, Margot Haun, Ivan Curjuric, Alexessander Couto Alves, Victoria E Jackson, Eva Albrecht, Janina S Ried, Alexander Teumer, Lorna M Lopez, Jennifer E Huffman, Stefan Enroth, Yohan Bossé, Ke Hao, Wim Timens, Ulf Gyllensten, Ozren Polasek, James F Wilson, Igor Rudan, Caroline Hayward, Andrew J Sandford, Ian J Deary, Beate Koch, Eva Reischl, Holger Schulz, Jennie Hui, Alan L James, Thierry Rochat, Erich W Russi, Marjo-Riitta Jarvelin, David P Strachan, Ian P Hall, Martin D Tobin, Morten Dahl, Sune Fallgaard Nielsen, Børge G Nordestgaard, Florian Kronenberg, Maurizio Luisetti, Nicole M Probst-Hensch   +42 more
doaj   +1 more source

E-Cigarette Liquid Provokes Significant Embryotoxicity and Inhibits Angiogenesis

Toxics, 2020
E-cigarette smoking (ECS) is a new method of tobacco smoking that is gaining popularity as it is thought to be a “healthy method” of tobacco consumption.
Anas A. Ashour, Hashim Alhussain, Umar Bin Rashid, Labiba Abughazzah, Ishita Gupta, Ahmed Malki, Semir Vranic, Ala-Eddin Al Moustafa   +7 more
doaj   +1 more source

Incidence of alpha-1 antitrypsin Z and S alleles in patients with granulomatosis with polyangiitis — pilot study [PDF]

, 2013
WSTĘP: Wrodzony niedobór alfa-1 antytrypsyny jest jedną z trzech najczęstszych chorób genetycznych rasy kaukaskiej i wiąże się z istotnie wyższym ryzykiem rozwoju postępujących obturacyjnych chorób płuc, zwłaszcza przewlekłej obturacyjnej choroby płuc ...
Chorostowska-Wynimko, Joanna, Fijołek, Justyna, Gawryluk, Dariusz, Popławska, Beata, Struniawski, Radosław   +4 more
core   +2 more sources

Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review [PDF]

, 2019
A number of genome-wide association studies (GWASs) and meta-analyses of genetic variants have been performed in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis.
신재일, 이금화
core   +4 more sources

Red-fleshed apples rich in anthocyanins and white-fleshed apples modulate the aorta and heart proteome in hypercholesterolaemic rats: the AppleCOR study [PDF]

, 2022
The impact of a red-fleshed apple (RFA) rich in anthocyanins (ACNs), a white-fleshed apple (WFA) without ACNs, and an extract infusion from Aronia fruit (AI) equivalent in dose of cyanidin-3-O-galactoside (main ACN) as RFA was determined by the proteome ...
Canela, Núria, Catalan, Úrsula, Companys, Judit, Foguet, Elisabet, Herrero, Pol, Motilva, Maria-Jose, Pedret, Anna, Piñol, Carme, Rubió Piqué, Laura, Sandoval-Ramírez, Berner Andrée, Solà, Rosa, Yuste, Silvia   +11 more
core   +2 more sources

The Genetic Predisposition and Its Impact on the Diabetes Mellitus Development in Patients with Alcoholic Chronic Pancreatitis

Gastroenterology Research and Practice, 2015
The most common cause of chronic pancreatitis (CP) is alcohol abuse. The aim of the present study was to identify patients with genetic predisposition to CP abusing alcohol.
Agnieszka Madro, Marzanna Ciesielka, Krzysztof Celinski, Maria Slomka, Grazyna Czechowska, Jacek Kurzepa, Beata Kaszelan-Szczerbinska, Grzegorz Buszewicz, Roman Madro   +8 more
doaj   +1 more source

Organoids in Cancer Research and Regenerative Medicine: Current Status, Challenges, and Future Prospects

MedComm, Volume 7, Issue 1, January 2026.
The management of cancer and tissue regeneration remains a substantial challenge to global health. Organoids, which are stem cell‐derived three‐dimensional multicellular structures, are revolutionizing biomedical research. Therefore, this review highlights their applications in cancer research and regenerative medicine, while discussing current ...
Ruiyang Li, Yuezhou Wu, Zhu'anzhen Zheng, Fengjin Zhou, Ke Xu, Jiacan Su   +5 more
wiley   +1 more source

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal [PDF]

, 2012
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide.
Barreto da Silva, Marta, Beleza, Álvaro, Bourbon, Mafalda, Dias, Carlos Matias, Fernandes, Aida, Gaio, Vânia, Gil, Ana Paula, Horta Correia, Filomena, Mendonça, Francisco, Vicente, A.M.   +9 more
core  

Muscle Cathepsin B Treatment Improves Behavioral and Neurogenic Deficits in a Mouse Model of Alzheimer's Disease

Aging Cell, Volume 24, Issue 11, November 2025.
Targeting muscle with Cathepsin B (Ctsb) to treat the AD mouse brain. In this study, an AAV‐vector‐mediated approach, utilized to express Ctsb in muscle, prevented mnemonic and neurogenic deficits and normalized hippocampal, muscle, and plasma proteomic profiles.
Alejandro Pinto, Hazal Haytural, Cássio Morais Loss, Claudia Alvarez, Asude Ertas, Olivia Curtis, Alyssa R. Williams, Grayson Murphy, Kenneth J. Salleng, Sylvia Gografe, Nishant P. Visavadiya, Andy V. Khamoui, Ali Altıntaş, Tal Kafri, Romain Barres, Atul S. Deshmukh, Henriette van Praag   +16 more
wiley   +1 more source

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

PLoS ONE, 2013
Genome-wide association (GWA) studies have been limited by the reliance on common variants present on microarrays or imputable from the HapMap Project data.
Andrew R Wood, John R B Perry, Toshiko Tanaka, Dena G Hernandez, Hou-Feng Zheng, David Melzer, J Raphael Gibbs, Michael A Nalls, Michael N Weedon, Tim D Spector, J Brent Richards, Stefania Bandinelli, Luigi Ferrucci, Andrew B Singleton, Timothy M Frayling   +14 more
doaj   +1 more source