Results 51 to 60 of about 124,197,172 (205)
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 +6 more
doaj +1 more source
A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics
Andrology, EarlyView.ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis +3 more
wiley +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
Grywińska, Weronika Barbara +9 more
core +3 more sources
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Orphanet Journal of Rare Diseases, 2018 Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea +10 more
doaj +1 more source
British Journal of Haematology, EarlyView.The graphical abstract provides a view on selected aspects of the pathogenesis, risk stratification and treatment of acute GVHD. Summary Acute graft‐versus‐host disease (aGVHD) remains a major complication following allogeneic haematopoietic stem cell transplantation (allo‐HSCT), representing a leading cause of non‐relapse mortality (NRM) and ...
Hazim Khatib, Robert Zeiser
wiley +1 more source
Alpha-1 antitrypsin deficiency 50 years later
, 2014 National audienceAlpha-1 antitrypsin deficiency is a frequent genetic disorder associated with pulmonary emphysema in smokers and with liver cirrhosis. Aside from lung or liver transplantation, only replacement therapy can currently slow the progression ...
Mornex, Jean-Francois
core +6 more sources
Lung transplantation in alpha 1 antitrypsin deficiency
8.2 Transplantation, 2015 Lung transplantation is a therapeutic option for patients with end-stage lung disease and a survival benefit has been described in patients with alpha-1-antitrypsin deficiency (A1ATD). The aims of the current study were to determine the survival and health benefits of lung transplantation in UK patients with A1ATD compared to carefully matched non ...
Helen Marie, Stone +3 more
openaire +2 more sources
POLA2‐Related Coats Plus Syndrome: Case Presentation and Description of an Emerging Disorder
Clinical Genetics, EarlyView.We report an adult male with bilateral retinal vascular disease, hypocellular bone marrow failure, severe gastrointestinal bleeding, and premature hair graying, with telomere lengths near the 10th percentile. Exome sequencing resulted in the diagnosis of POLA2‐related Coats plus syndrome, making him the sixth reported case.
Daniel W. Serber +7 more
wiley +1 more source
Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease
Arquivos de Gastroenterologia, 2001 Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic ...
De TOMMASO Adriana Maria Alves +5 more
doaj
Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2016 nema
Stojković-Lalošević Milica +5 more
doaj +1 more source