Results 41 to 50 of about 15,020 (214)

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

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

Tumor‐Derived Alpha‐1 Antitrypsin Promotes Liver Metastasis of Colorectal Cancer Through the Neutrophil Extracellular Traps–CCDC25 Pathway

Advanced Science, EarlyView.
ABSTRACT Liver metastasis is a leading cause of mortality in colorectal cancer (CRC), where the inflammatory tumor microenvironment, specifically neutrophil infiltration, significantly promotes metastatic colonization. This study reveals a pro‐metastatic role for alpha‐1 antitrypsin (A1AT) in CRC liver metastasis via a dual mechanism involving ...
Qian Fei, Chunning Li, Lei Zhan, Xiaoyan Li, Yan Hui, Yue Jin, Jing Zhang, Lu Yang, Xin Sun, Xiaoxi Li, Qian Dong, Jingdong Zhang   +11 more
wiley   +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

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

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

Glycoengineered Recombinant Alpha1‐Antitrypsin Results in Comparable In Vitro and In Vivo Activities to Human Plasma‐Derived Protein

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Alpha‐1‐antitrypsin (A1AT) is a multifunctional, clinically important, high‐value therapeutic glycoprotein that can be used for the treatment of many diseases, such as A1AT deficiency, diabetes, graft‐versus‐host disease, cystic fibrosis, and various viral infections. Currently, the only U.S. food and drug administration‐approved treatment for
Frances Rocamora, Chen‐Lin Hsieh, Sanne Schoffelen, Johnny Arnsdorf, Eric A. Toth, Abdul S. Yunus, Thomas E. Cleveland IV, Sara Petersen Bjørn, Mina Ying Min Wu, Noel G. McElvaney, Bjørn Gunnar Rude Voldborg, Thomas R. Fuerst, Nathan E. Lewis   +12 more
wiley   +1 more source

SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort [PDF]

, 2012
BACKGROUND: Severe alpha1-antitrypsin (AAT) deficiency is a strong risk factor for COPD. But the impact of gene variants resulting in mild or intermediate AAT deficiency on the longitudinal course of respiratory health remains controversial.
Margaret Gerbase, Nicole M Probst-Hensch, Zorzetto Michele, Zorzetto, M., F. Kronenberg, P. Bridevaux, Ottaviani, S., LUISETTI, MAURIZIO, Zemp, E., N. M. Probst Hensch, Elisabeth Zemp (142900), Erich W Russi, Gian-Andri Thun (142891), Gerbase Margaret, Russi Erich W., Gian-Andri Thun, Thierry Rochat, E. Zemp, FERRAROTTI, ILARIA, Florian Kronenberg (87557), Maurizio Luisetti (142908), G. Thun, Nicole M. Probst-Hensch (110284), Michele Zorzetto (142902), Russi, E. W., Medea Imboden, Stefania Ottaviani, Ilaria Ferrarotti (142893), Pierre-Olivier Bridevaux, Kronenberg Florian, Florian Kronenberg, Ferrarotti, I., Bridevaux Pierre-Olivier, Luisetti Maurizio, S. Ottaviani, Erich W. Russi (142906), Ferrarotti Ilaria, Stefania Ottaviani (142904), Thun Gian-Andri, Michele Zorzetto, E. W. Russi, Gerbase, M., Bridevaux, P. O., Pierre-Olivier Bridevaux (142898), Rochat, T., T. Rochat, Thierry Rochat (110261), Thun, G. A., M. Gerbase, Ilaria Ferrarotti, Margaret Gerbase (142896), Elisabeth Zemp, Maurizio Luisetti, Imboden, M., Medea Imboden (110145), Imboden Medea, M. Zorzetto, Rochat Thierry, Kronenberg, F., Probst-Hensch, N. M., M. Imboden, Probst-Hensch Nicole M., Luisetti, M., Ottaviani Stefania, Zemp Elisabeth   +64 more
core   +1 more source

Supplementary appendix: Alpha-1 Antitrypsin Deficiency-Associated Panniculitis.

, 2021
Supplementary appendix to "Alpha-1 Antitrypsin Deficiency-Associated Panniculitis"
Franciosi, A (via Mendeley Data)
core   +1 more source