Results 101 to 110 of about 24,588 (238)

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, Volume 7, Issue 2, Page 266-270, May 2026.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
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]

, 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, Fee, Laura T, Logan, P Mark, McElvaney, Noel G, O\u27Brien, M Emmett, O\u27Connor, Catherine, Pennycooke, Kevin, Reeves, Emer P, Shum, Jonathan   +8 more
core   +2 more sources

Endoplasmic reticulum polymers impair luminal protein mobility and sensitize to cellular stress in alpha1-antitrypsin deficiency. [PDF]

, 2013
UNLABELLED: Point mutants of alpha1 -antitrypsin (α1AT) form ordered polymers that are retained as inclusions within the endoplasmic reticulum (ER) of hepatocytes in association with neonatal hepatitis, cirrhosis, and hepatocellular carcinoma.
Lomas, David A, Marciniak, Stefan J, Miranda, Elena, Ordóñez, Adriana, Snapp, Erik L, Tan, Lu   +5 more
core   +2 more sources

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

JPGN 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, Antonia C. Rovira, Pamela Castillo Rocha, Janelle Torres, Claudia M. Salgado, Miguel Reyes‐Múgica, Richard N. Arboleda, Fatima S. Hussain   +7 more
wiley   +1 more source

Liver transplantation for alcoholic cirrhosis: Long term follow-up and impact of disease recurrence [PDF]

, 2001
Background. Alcoholic liver disease has emerged as a leading indication for hepatic transplantation, although it is a controversial use of resources. We aimed to examine all aspects of liver transplantation associated with alcohol abuse.
Andrea M. DiMartini, Anthony J. Demetris, Ashok Jain, Balan, Bassendine, Becker, Belle, Bellentani, Beresford, Beresford, Beresford, Berlakovich, Bernard, Bizollon, Blakolmer, Campbell, Chao, Christopher O.C. Bellamy, Conjeevaram, Cromie, Duvoux, Enomoto, Everhart, Everson, Fauerholdt, Ferrell, Forrest Dodson, Foster, Gane, Graziadei, Harrison, Hoofnagle, Howard, Iezzoni, Ishak, Jain, John J. Fung, Keeffe, Kenngott, Kris Ruppert, Kumar, Kyriacou, Lee, Levin, Levy, Lucey, Lucey, Lucey, Mendenhall, Michael Torbenson, Nabel, Neuberger, Neuberger, Neuberger, Osorio, Pageaux, Pappo, Pereira, Reed, Reich, Saunders, Schiff, Seitz, Sherlock, Shev, Starzl, Tang, Thomas E. Starzl, Tringali, Uchimura, Wiesner, Yates   +71 more
core   +2 more sources

Migraine Causality in Alpha-1 Antitrypsin Deficiency

Düzce 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

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass 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, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

IgE-tailpiece associates with α-1-antitrypsin (A1AT) to protect IgE from proteolysis without compromising its ability to interact with FcεRI [PDF]

, 2016
Several splice variants of IgE exist in human plasma, including a variant called IgE-tailpiece (IgE-tp) that differs from classical IgE by the replacement of two carboxy-terminal amino acids with eight novel residues that include an ultimate cysteine. To
Dunne, David W, Moore, Shona C., Pleass, Richard, Quinn, Phyllis M   +3 more
core   +4 more sources

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

Pregnancy, 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, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Дефицит альфа-1-антитрипсина: генетические основы, эпидемиология, значение в развитии бронхо-легочной патологии [PDF]

, 2015
альфа-1-антитрипсинбронхолегочная дисплазияКРОВИ СЫВОРОТКАмутациягенная ...
Даниленко, Н. Г., Жигальцов, А. М., Жигальцова-Кучинская, О. А., Метельский, С. М., Нагорнов, И. В., Сивицкая, Л. Н.   +5 more
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