Results 21 to 30 of about 11,907 (228)

Fusion transcripts landscape in hepatocellular carcinoma and potential impact on the expression of fusion partners [PDF]

RNA Biology
Fusion transcripts (FTs) are RNA molecules, also known as chimeric transcripts, formed through chromosomal rearrangements or transcriptional processes, contributing to tumorigenesis.
Yasemin Öztemur Islakoğlu, Peyda Korhan, Leman Binokay, Barış Keleş, Ezgi Bağırsakçı, Meryem Uludağ Taşçıoğlu, Emine Şamdancı, Gökhan Karakülah, Neşe Atabey   +8 more
doaj   +2 more sources

Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene. [PDF]

PLoS ONE, 2017
Human SERPINA1 gene is located on chromosome 14q31-32.3 and is organized into three (IA, IB, and IC) non-coding and four (II, III, IV, V) coding exons. This gene produces α1-antitrypsin (A1AT), a prototypical member of the serpin superfamily of proteins.
Nerea Matamala, Nupur Aggarwal, Paolo Iadarola, Marco Fumagalli, Gema Gomez-Mariano, Beatriz Lara, Maria Teresa Martinez, Isabel Cuesta, Jan Stolk, Sabina Janciauskiene, Beatriz Martinez-Delgado   +10 more
doaj   +8 more sources

Serum α1-AT Levels and SERPINA1 Molecular Analysis in Breast Cancer: An Experimental and Computational Study

Diseases
Background/Objectives: Breast cancer (BC) is a heterogeneous disease with multifactorial origins, including environmental, genetic, and immunological factors.
Guadalupe Ávalos-Navarro, Luis A. Bautista-Herrera, Asbiel Felipe Garibaldi-Ríos, Ramiro Ramírez-Patiño, Marisol Gutiérrez-García, Perla Briseño-Álvarez, Luis Felipe Jave-Suárez, Emmanuel Reyes-Uribe, Martha Patricia Gallegos-Arreola   +8 more
doaj   +2 more sources

PiComplutense (p.Pro393Thr): A novel SERPINA1 variant in Alpha-1 antitrypsin deficiency identified in two siblings. [PDF]

Respir Med Case Rep
Rodríguez Hermosa JL, Esmaili S, Ayat Ortiz S, Gómez Martín-Caro L, Matamala N, Martínez Delgado B, Calle Rubio M.   +6 more
europepmc   +2 more sources

Serpin family A member 1 is an oncogene in glioma and its translation is enhanced by NAD(P)H quinone dehydrogenase 1 through RNA-binding activity

Open Medicine, 2022
Serpin family A member 1 (SERPINA1) is expressed abundantly in gliomas and can predict unfavorable prognosis of patients with glioma. Studies have shown that nicotinamide adenine dinucleotide phosphate quinone dehydrogenase 1 (NQO1) can promote the ...
Liu Wenjun, Du Min, Wan Hongping, Yang Hao, Deng Xiaorong, Chen Yu, Zhang Qian   +6 more
doaj   +1 more source

SERPINA1 gene polymorphisms in a population‐based ALSPAC cohort [PDF]

Pediatric Pulmonology, 2019
Abstract Background There is an association between persistent preschool wheezing phenotypes and school‐age asthma. These wheezing/asthma phenotypes likely represent clinical entities having specific genetic risk factors.
David S. DeLuca, Edita Poluzioroviene, Vaida Taminskiene, Sabine Wrenger, Algirdas Utkus, Algirdas Valiulis, Tomas Alasevičius, John Henderson, Andrew Bush, Tobias Welte, Sabina Janciauskiene, Arunas Valiulis   +11 more
openaire   +7 more sources

SERPINA1 modulates expression of amyloidogenic transthyretin

Experimental Cell Research, 2020
Hereditary transthyretin amyloidosis (ATTR) is caused by amyloid deposition of misfolded transthyretin (TTR) in various tissues. Recently, reduction of circulating serum TTR, achieved via silencing oligonucleotides, was introduced as therapy of ATTR amyloidosis.
Christoph, Niemietz, Filipa, Bezerra, Maria Rosário, Almeida, Shuling, Guo, Brett P, Monia, Maria João, Saraiva, Paula, Schütz, Hartmut H-J, Schmidt, Andree, Zibert   +8 more
openaire   +2 more sources

Identification and characterisation of eight novel SERPINA1 Null mutations [PDF]

Orphanet Journal of Rare Diseases, 2014
Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found at 14q32.1. Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD) which is associated with a substantially increased risk of lung ...
Ferrarotti I., Carroll T. P., Ottaviani S., FRA, Annamaria, Brien G. O., Molloy K., Corda L., Medicina D., Curran D. R., McElvaney N. G., Luisetti M.   +10 more
openaire   +4 more sources

Toll-like receptor signaling pathway triggered by inhibition of serpin A1 stimulates production of inflammatory cytokines by endometrial stromal cells

Frontiers in Endocrinology, 2022
Endometriosis is characterized by the presence of inflamed and fibrotic endometrial tissue outside the uterine cavity. Previously, we found decreased SERPINA1 (alpha-1 antitrypsin) expression in endometriosis-like lesions in a mouse model of ...
Kazuya Kusama, Ayaka Satoyoshi, Mana Azumi, Mikihiro Yoshie, Junya Kojima, Yumi Mizuno, Masanori Ono, Hirotaka Nishi, Takeshi Kajihara, Kazuhiro Tamura   +9 more
doaj   +1 more source

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources