Results 41 to 50 of about 107,949,779 (166)

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

Annals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta, Srilekha Sridhara, John A Wood   +2 more
doaj   +1 more source

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies [PDF]

, 2004
Alpha-1-antitrypsin (alpha(1)-antitrypsin) is the archetypal member of the serine proteinase inhibitor or serpin superfamily. The most common severe deficiency variant is the Z allele, which results in the accumulation of mutant protein within ...
David A. Lomas, Elena Miranda, Lynda K Sharp, MIRANDA BANOS, MARIA ELENA, Lynda K. Sharp, Kerri J. Kinghorn, David A Lomas, Damian C. Crowther, Kerri J Kinghorn, Damian C Crowther, Didier Belorgey   +10 more
core   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

The Relationship between Plasma Alpha-1-Antitrypsin Polymers and Lung or Liver Function in ZZ Alpha-1-Antitrypsin-Deficient Patients

Biomolecules, 2022
Alpha-1-Antitrypsin (AAT) is a protein of the SERPINA1 gene. A single amino acid mutation (Lys342Glu) results in an expression of misfolded Z-AAT protein, which has a high propensity to intra- and extra-cellular polymerization.
Annelot D. Sark, Malin Fromme, Beata Olejnicka, Tobias Welte, Pavel Strnad, Sabina Janciauskiene, Jan Stolk   +6 more
doaj   +1 more source

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

Frontiers in Molecular Biosciences, 2022
Background: Alpha-1 antitrypsin deficiency (A1ATD) is a progressive lung disease caused by inherited pathogenic variants in the SERPINA1 gene. However, their actual role in maintenance of structural and functional characteristics of the corresponding α-1
Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Bint Saud Al-Saud, Thamer Abdulhamid Aljuhani, Kaiser Jamil, Huda Alnuman, Deema Aljeaid, Nasreen Sultana, Ashraf AbdulRahman El-Harouni, Zuhier Ahmed Awan, Zuhier Ahmed Awan, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli   +14 more
doaj   +1 more source

CHAPLE‐Like Enteropathy and Renal Microangiopathy in an Adult Patient With CD46 Deficiency

Journal of Clinical Laboratory Analysis, EarlyView.
We report an adult patient with a homozygous CD46 variant presenting with lifelong protein‐losing enteropathy, intestinal lymphangiectasia, and CVID‐like hypogammaglobulinemia mimicking CHAPLE syndrome. Concurrent renal biopsy revealed PLA2R‐negative membranous nephropathy with chronic thrombotic microangiopathy, establishing multi‐organ complement ...
Bircan Erden, Pelin Korkmaz, Halil Yazici, Ahmet Burak Dirim, Fatih Beşışık, Nevzat Kahveci, Zeynep Kilinc, Derya Unal, Osman Ozan Yegit, Tuğba Kalaycı, Özge Hürdoğan, Yasemin Özlük, Melek Büyük, Asli Gelincik, Semra Demir   +14 more
wiley   +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

Alpha 1 Antitrypsin Deficiency Pathophysiology, Symptoms, Diagnosis, Treatment [PDF]

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
Weronika Barbara Grywińska, Julia Kozakiewicz, Aleksandra Okońska, Iwona Skorulska, Klaudia Mączewska, Kamil Kościelecki, Aleksandra Głowacka, Patrycja Długozima, Agnieszka Kalisz, Paulina Grzeszczuk   +9 more
core   +3 more sources

Altered T cell immune profile and its prognostic implications in children with portal hypertension: A pilot study

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Immune dysregulation in paediatric portal hypertension (PHT) is poorly understood. We aimed to characterise T cell phenotype and function and circulating immune mediators in children with PHT according to disease aetiology. Methods Forty‐four children with PHT (27 chronic liver disease [CLD]‐related and 17 portal vein thrombosis ...
Tengfei Si, Huihong Yu, Bethany Tucker, Fabiola Di Dato, Qing Shao, Xuan Luo, Cody Chan, Pauline Kane, Dylan Lewis, Eirini Kyrana, Yun Ma, Tassos Grammatikopoulos   +11 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