Results 111 to 120 of about 42,616 (247)

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

open access: yesCase 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   +2 more
doaj   +1 more source

Feasibility of commercial space manufacturing, production of pharmaceuticals. Volume 1: Executive summary [PDF]

open access: yes
The feasibility of the commercial manufacturing of pharmaceuticals in space is examined. The method of obtaining pharmaceutical company involvement, laboratory results of the separation of serum proteins by the continuous flow electrophoresis process ...

core   +1 more source

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

open access: yesJPGN Reports, Volume 7, Issue 2, Page 227-230, May 2026.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings   +7 more
wiley   +1 more source

Protein glycosylation in lung cancer from a mass spectrometry perspective

open access: yesMass Spectrometry Reviews, Volume 45, Issue 3, Page 455-475, May/June 2026.
ABSTRACT Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi   +2 more
wiley   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

open access: yes
American Journal of Hematology, Volume 101, Issue 6, Page 1196-1200, June 2026.
Bo A. Wan   +7 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Reduction in Synaptic Vesicle Protein Abundance but Increased Amounts of Nsg2 and Lpcat1 in Cerebral Cortices Without the Endosomal SNARE Proteins Vti1a and Vti1b

open access: yesPROTEOMICS, Volume 26, Issue 5, Page 86-97, May 2026.
ABSTRACT Absence of the endosomal SNAREs vti1a and vti1b results in perinatal death and severe neuronal phenotypes in mice, while lack of one of these proteins results in minor phenotypes. Proteomic differences were investigated to obtain a deeper insight into processes in which vti1a and vti1b are involved.
Julia Gottschalk   +4 more
wiley   +1 more source

Decellularized Aged Bruch's Membrane Confers Unique Biochemical Cues to Retinal Pigment Epithelium for In Vitro Modeling of Age‐Related Macular Degeneration

open access: yesAging Cell, Volume 25, Issue 5, May 2026.
A Bruchs membrane (BrM) mimic based on aged decellularized BrM was developed and differentially expressed proteins in aged dECM‐BrM that may provide specific biochemical cues fundamental to model AMD in vitro were identified. RPE culture on aged dECM‐BrM developed certain AMD‐like features including reduced TEER and expression of drusen components ...
Blanca Molins   +8 more
wiley   +1 more source

Sweet syndrome with pulmonary involvement in a patient with myelodysplastic syndrome [PDF]

open access: yes, 2020
We report a patient with Sweet syndrome involving the pulmonary system in the context of myelodysplastic syndrome. Although Sweet syndrome may involve a variety of organ systems, the pulmonary system is rarely affected and can result in poor clinical ...
Bordelon, Jenna   +7 more
core  

The Alpha‐1 Pi*MZ Genotype Is an Independent Risk Factor for Hepatocellular Carcinoma Development in Patients With ACLD

open access: yesAlimentary Pharmacology &Therapeutics, Volume 63, Issue 10, Page 1380-1389, May 2026.
Alpha‐1 antitrypsin deficiency is a genetic disease that affects the lungs and the liver. The role of the heterozygous genetic defect in the development of liver cancer in patients with cirrhosis is unclear. Our study found that carrying the Pi*MZ genotype increases the risk of developing liver cancer.
Lorenz Balcar   +18 more
wiley   +1 more source

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