Results 111 to 120 of about 11,580,920 (364)

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Rare ophthalmology diseases

romanian journal of ophthalmology, 2019
Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Sanziana Istrate, Aida Geamanu, Cristina Alexandrescu, Raluca Iancu, Elena Angelica Sburlan, Mihai Ghita, Emil Ungureanu, Liliana-Mary Voinea, Ruxandra Pirvulescu, Ciuluvica Radu   +9 more
openaire   +3 more sources

Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma

Molecular Oncology, EarlyView.
GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski, Molly R. Danks, John P. Thomson, Morwenna Muir, Martin Lee, John C. Dawson, Ana T. Amaral, Juan Diaz‐Martin, David S. Moura, Javier Martin‐Broto, Ali Alsaadi, Donald M. Salter, Ailsa J. Oswald, Graeme Grimes, Larry Hayward, Ted R. Hupp, Karen Sisley, Paul H. Huang, Neil O. Carragher, Valerie G. Brunton   +19 more
wiley   +1 more source

Evaluation and modification of tumor cell isolation techniques from malignant effusions for rapid drug sensitivity testing

Molecular Oncology, EarlyView.
Non‐small cell lung cancer targeted treatment is limited to a few known genetic alterations, with few alternatives in advanced treatment lines. To direct treatment decisions by drug sensitivity testing (DST), this study compared several methods for tumor cell isolation from malignant effusions, pointing to repeated CD45+ cell depletion for effective ...
Navit Mooshayef, Hana Barhom, Sumit Chatterji, Netta Hecht, Oran Warhaftig, Iris Kamer, Oranit Zadok, Jair Bar, Limor Broday, Amir Onn, Michael Peled   +10 more
wiley   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

Molecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková, Marie Ehrlichová, Alžběta Spálenková, Ivona Krus, Simona Šůsová, Viktor Hlaváč, Vlasta Němcová, Renata Koževnikovová, Markéta Trnková, David Vrána, Jiří Gatěk, Kateřina Kopečková, Marcela Mrhalová, Soňa Měšťáková, Pavel Souček   +14 more
wiley   +1 more source

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +1 more source

Protocol for determining the average speed and frequency of kinesin and dynein-driven intraflagellar transport (IFT) in C. elegans

STAR Protocols, 2022
Summary: Here, we present a protocol to image a fluorescent-labeled intraflagellar transport (IFT) component in Caenorhabditis elegans with fluorescence microscopy, including steps of sample preparations, in vivo live-cell imaging, and post-microscopy ...
Merve G. Turan, Hanife Kantarci, Sadiye D. Temtek, Onur Cakici, Sebiha Cevik, Oktay I. Kaplan   +5 more
doaj  

A Rare Complication of a Rare Disease [PDF]

Gastroenterology, 2019
Luke J. Nayak, Arjun R. Sondhi, Maria Westerhoff   +2 more
openaire   +3 more sources

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

Molecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim, Sungwoo Bae, Jaeyong Choi, Sun‐Wha Im, Bukyoung Cha, Gyeongseo Jung, Sun Wook Cho, Eul‐Ju Seo, Young Ah Lee, Jin Chul Paeng, Young Joo Park, Jong‐Il Kim   +11 more
wiley   +1 more source

The critical role of DNA damage‐inducible transcript 4 (DDIT4) in stemness character of leukemia cells and leukemia initiation

Molecular Oncology, EarlyView.
Stemness properties, including quiescence, self‐renewal, and chemoresistance, are closely associated with leukemia relapse. Here, we demonstrate that DNA damage‐inducible transcript 4 (DDIT4) is induced in the hypoxic bone marrow niche and is essential for maintaining the stemness of AML1‐ETO9a leukemia cells.
Yishuang Li, Zhijie Cao, Haiyan Xing, Zhenya Xue, Wenbing Liu, Jiayuan Chen, Yihan Mei, Runxia Gu, Hui Wei, Shaowei Qiu, Min Wang, Qing Rao, Jianxiang Wang   +12 more
wiley   +1 more source