Results 51 to 60 of about 24,588 (238)

Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

Advanced Science, EarlyView.
The ER's continuous tubular network is maintained by ER‐shaping proteins whose mutation or dysregulation contributes to neurodegenerative diseases. Here, we show that ER morphology sets the speed of Ca2+ store replenishment between firing events. Disrupting ER continuity slows intra‐ER Ca2+ redistribution from extracellular refill (SOCE) sites, driving
Valentina Davi, Pierre Parutto, Yuyi Zhang, Tasuku Konno, Cecile Crapart, Raquel Pereira, John P. Franklin, Mosab Ali Awadelkareem, Daniel C Maddison, Michael J. Devine, Edgar R. Gomes, Joseph Chambers, Elena Koslover, Edward Avezov   +13 more
wiley   +1 more source

Alpha 1 Antitrypsin Deficiency Pathophysiology, Symptoms, Diagnosis, Treatment

Quality in Sport
Introduction: This review paper aims to emphasize how Alpha-1-antitrypsin deficiency is how can lead to serious disease states, indicating the pathophysiology, symptoms, diagnostic possibilities, therapeutic methods and proving that early diagnostics for
Kamil Kościelecki, Agnieszka Kalisz, Aleksandra Okońska, Julia Kozakiewicz, Iwona Skorulska, Patrycja Długozima, Aleksandra Głowacka, Weronika Barbara Grywińska, Paulina Grzeszczuk, Klaudia Mączewska   +9 more
doaj   +1 more source

Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Alpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others ...
Anna Annunziata, Alessandra Di Perna, Ilaria Ferrarotti, Antonietta Coppola, Maria Burricco, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Management of chronic airway diseases:What can we learn from real-life data? [PDF]

, 2017
Chronic obstructive pulmonary disease (COPD), alpha-1 antitrypsin deficiency (AATD) and non-cystic fibrosis bronchiectasis (hereafter referred to as bronchiectasis) are distinct but related airway diseases: COPD is characterised by persistent and usually
Greulich T, James D. Chalmers
core   +3 more sources

Pregnancy and alpha-1 antitrypsin deficiency [PDF]

Postgraduate Medical Journal, 1987
Summary A 29 year old patient with alpha-1 antitrypsin deficiency and bullous emphysema became pregnant against the advice of her physicians. Despite a mid-trimester pneumothorax requiring the insertion of a chest tube, she went on to deliver a healthy child under epidural anaesthesia using a midforceps technique. Vaginal delivery is not
openaire   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia

Case Reports in Surgery, 2017
We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario.
Andrew W. Wang, Kimberly Newton, Karen Kling   +2 more
doaj   +1 more source

CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans [PDF]

, 2019
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy.
Buland, Justin R, Chou, Wendy Y. Y., Cole, F. Sessions, Dawson, Zachary, Homayouni, Airelle, Huang, Huiyan, Jia, Hanna, Kim, Hyori, Luke, Cliff J, Moreno, Marco, Pak, Stephen C, Silverman, Gary A, Thomas, Brian J, Wambach, Jennifer A, Wright, Ira E   +14 more
core   +3 more sources

Targeting neutrophil extracellular traps in metabolic and immune niche: Nanomaterials for diabetes tissue regeneration

BMEMat, EarlyView.
The effects of NETs on regeneration of various diabetic tissues, and strategies targeting NETs for diabetes tissue regeneration. In the diabetic environment, NETs undergo complex metabolic and immune reprogramming, leading to dynamic changes in antibacterial and proinflammatory functions, and affecting regeneration of multiple systemic tissues.
Xinyi Jiang, Muxin Yue, Kai Mao, Boon Chin Heng, Noor Azlin Yahya, Yunsong Liu, Zheng Li   +6 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