Results 101 to 110 of about 24,734 (239)

Alpha-1-antitrypsin deficiency.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1971
No ...
Kanarek, D.J.   +3 more
openaire   +2 more sources

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples [PDF]

open access: yes, 2017
Background: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are ...
Barrecheguren, Miriam   +5 more
core   +1 more source

Novel Vascularized Human Liver Organoids for Modeling Alcohol‐Induced Liver Injury and Developing Hepatoprotective Therapy

open access: yesAdvanced Science, Volume 13, Issue 9, 13 February 2026.
This study successfully engineered vascularized liver organoids (3HLOs) by co‐culturing human reprogrammed hepatocyte‐like cells (hrHLs) with human umbilical vein endothelial cells (HUVECs) and human umbilical mesenchymal stem cells (HUMSCs). Upon implantation, the 3HLOs established functional vascular anastomosis with the host circulation and ...
Kangdi Yang   +13 more
wiley   +1 more source

Migraine Causality in Alpha-1 Antitrypsin Deficiency

open access: yesDüzce Tıp Fakültesi Dergisi
Alpha1-antitrypsin (A1AT) is an anti-inflammatory mediator with antiprotease activity associated with anti-inflammatory and immunomodulatory effects in various inflammatory conditions.
Esra Demir Unal
doaj   +1 more source

Membralin Assembles a MAN1B1–VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation

open access: yesAdvanced Science, Volume 13, Issue 9, 13 February 2026.
This study identifies Membralin as an ER‐phagy receptor that recruits MAN1B1 and VCP to form a selective ERLAD complex. By sensing dense N‐glycan clusters on viral fusion glycoproteins, this ubiquitin‐independent pathway directs SARS‐CoV‐2 spike, Ebola GP, influenza HA, and HIV‐1 Env to lysosomal degradation, thereby limiting viral infectivity ...
Jing Zhang   +5 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

open access: yesZdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But   +2 more
doaj   +1 more source

A Clinical Guidance for the Management of Patients With Hepatoid Adenocarcinoma and A Case Series

open access: yesCancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Hepatoid adenocarcinoma (HAC) is a rare extrahepatic tumor of non‐germ cell origin that morphologically resembles hepatocellular carcinoma (HCC). HAC has a propensity to metastasize to the liver and therefore may be mistaken for HCC. There is a lack of standardized treatment protocols, and further studies are needed to evaluate the benefit of ...
Christina Liava   +4 more
wiley   +1 more source

The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. [PDF]

open access: yes, 2015
Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the SERPINA1 gene causing genetic susceptibility to early onset lung and liver disease that may result in premature death.
Carroll, Tomás P   +8 more
core   +2 more sources

Digital Biomarkers for Precision Early Detection of Lung Cancer: Integrating AI‐Driven Multi‐Omics Into Clinical Pathways

open access: yesCancer Medicine, Volume 15, Issue 2, February 2026.
ABSTRACT Background Lung cancer remains the leading cause of cancer‐related mortality worldwide, highlighting the urgent need for earlier detection within real‐world screening and patient management pathways. Recent advances in multi‐omics technologies have created new opportunities for identifying biomarkers associated with early‐stage lung cancer ...
Fan Bu, Zhi‐Qiang Ling
wiley   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

open access: yes, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A.   +6 more
core   +1 more source

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