Results 61 to 70 of about 42,616 (245)

An antibody raised against a pathogenic serpin variant induces mutant-like behaviour in the wild-type protein. [PDF]

, 2015
A monoclonal antibody (mAb) that binds to a transient intermediate may act as a catalyst for the corresponding reaction; here we show this principle can extend on a macro-molecular scale to the induction of mutant-like oligomerisation in a wild-type ...
Faull, SV, Haq, I, Irving, JA, Kotov, VR, Lomas, DA, Miranda, E, Motamedi-Shad, N, Perez, J   +7 more
core   +1 more source

Multimodal MRI and multiomics reveal high‐risk neurophenotype in brain‐gut circuits as therapeutic target for Crohn's disease

Interdisciplinary Medicine, EarlyView.
Through a translational framework combining prospective dual‐center clinical cohorts with dextran sulfate sodium‐induced colitis models, this work integrated advanced neuroimaging, multi‐omics and neuromodulation interventions to redefine the high‐risk neurophenotype as a sustained pathogenic driver rather than a mere phenomenon, proposing brain‐gut ...
Xuehua Li, Ruonan Zhang, Xiaodi Shen, Shaochun Lin, Chuhuai Wang, Weikai Zheng, Weimiao Kong, Zihao Lin, Rongchang Li, Caiguang Liu, Xin Cao, Li Huang, Weitao He, Jinjiang Lin, Haijie Wang, Zhoulei Li, Marietta Iacucci, Subrata Ghosh, Zhenpeng Peng, Canhui Sun, Minhu Chen, Guang Yang, Yejun Wang, Ren Mao, Shi‐Ting Feng   +24 more
wiley   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

International Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki   +3 more
doaj   +1 more source

Pulse of inflammatory proteins in the pregnant uterus of European polecats (Mustela putorius) leading to the time of implantation [PDF]

, 2017
Uterine secretory proteins protect the uterus and conceptuses against infection, facilitate implantation, control cellular damage resulting from implantation, and supply pre-implantation embryos with nutrients.
Burchmore, Richard J.S., Kennedy, Malcolm W., Lindeberg, Heli   +2 more
core   +1 more source

Gut function among children treated for severe acute malnutrition: A cohort study in Uganda

JPGN Reports, EarlyView.
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero, Nicolette Nabukeera–Barungi, Ezekiel Mupere, Bikila S. Megersa, Iris Weidema, Pingping Jiang, Maria Wiese, Musemma K. Muhammed, Henrik Friis, Hanne Frøkiær, Dennis S. Nielsen, Vibeke Brix Christensen, Benedikte Grenov   +12 more
wiley   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

BMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Orphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko   +2 more
doaj   +1 more source