Results 151 to 160 of about 1,179,077 (360)

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

In vitro models of cancer‐associated fibroblast heterogeneity uncover subtype‐specific effects of CRISPR perturbations

Molecular Oncology, EarlyView.
Development of therapies targeting cancer‐associated fibroblasts (CAFs) necessitates preclinical model systems that faithfully represent CAF–tumor biology. We established an in vitro coculture system of patient‐derived pancreatic CAFs and tumor cell lines and demonstrated its recapitulation of primary CAF–tumor biology with single‐cell transcriptomics ...
Elysia Saputra, Shamsudheen Karuthedath Vellarikkal, Lixia Li, Hong Sun, Khoa Nguyen, Amber Montano, Suchitra Natarajan, Federica Piccioni, Alex Michael Tamburino, Xin Yu, Aleksandra Katarzyna Olow   +10 more
wiley   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

St8sia1-deficiency in mice alters tumor environments of gliomas, leading to reduced disease severity.

, 2021
Pu Zhang, Yuki Ohkawa, Satoko Yamamoto, Hiroyuki Momota, Akira Kato, Kei Kaneko, Atsushi Natsume, Farhana Yesmin, Yuhsuke Ohmi, Tetsuya Okajima, Robiul Hasan Bhuiyan, Toshihiko Wakabayashi, Keiko Furukawa, Koichi Furukawa   +13 more
openalex   +2 more sources

Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults [PDF]

, 2020
Ida Malesza, Michał Malesza, Iwona Krela‐Kaźmierczak, Aleksandra Zielińska, Eliana B. Souto, Agnieszka Dobrowolska, Piotr Eder   +6 more
openalex   +1 more source

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source

THE PATHOGENESIS OF DEFICIENCY DISEASE [PDF]

BMJ, 1919
openaire   +2 more sources

G-protein signaling modulator-3, a gene linked to autoimmune diseases, regulates monocyte function and its deficiency protects from inflammatory arthritis

, 2012
Patrick M. Giguère, Matthew J. Billard, Geneviève Laroche, Brian K. Buckley, Roman G. Timoshchenko, Marcus W. McGinnis, Denise Esserman, Oded Foreman, Peng Liu, David P. Siderovski, Teresa K. Tarrant   +10 more
openalex   +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
E O’Brien, K. Pennycooke, Tomás P. Carroll, Jonathan Shum, Laura T. Fee, Catherine O’Connor, P M Logan, Emer P. Reeves, Noel G. McElvaney   +8 more
openalex   +1 more source

Effect of Selenium Deficiency on the Development of Overt Hepatic Encephalopathy in Patients with Chronic Liver Disease [PDF]

, 2023
Yuki Nakahata, Tatsunori Hanai, Takao Miwa, Toshihide Maeda, Kenji Imai, Atsushi Suetsugu, Koji Takai, Masahito Shimizu   +7 more
openalex   +1 more source