Results 61 to 70 of about 5,368 (169)
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
International Journal of General Medicine, 2021 Linjue Shangguan,1,* Peipei Zhang,1 Shengwei Fang,1 Kaili Xiang,1 Yawen Geng,1 Dingcun Luo,2,* Chunlei Zhao1,* 1Department of Nuclear Medicine, Hangzhou Cancer Hospital, Hangzhou, 310002, People’s Republic of China; 2Department of Tumor ...
Shangguan L +6 more
doaj
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
NRAS-driven melanoma: A RAF can hide another
Molecular & Cellular Oncology, 2017 Using mouse genetics, we recently showed that BRAF has a critical role in initiation of NRAS-driven melanoma that cannot be compensated by CRAF. In contrast, RAF proteins display compensatory functions in fully established tumors and ARAF can sustain ...
Sabine Druillennec +2 more
doaj +1 more source
Animal Research and One Health, EarlyView.Selenomethionine can ameliorate arachidonic acid‐induced colonic injury through synergistic mechanisms, including alleviating inflammatory responses, improving barrier integrity, enhancing antioxidant capacity by upregulating selenoprotein expression, selectively regulating AA metabolism to reduce pro‐inflammatory oxylipins and promote the production ...
Huihui Tian +8 more
wiley +1 more source
Precision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain +3 more
wiley +1 more source
Клиническая онкогематология, 2014 This review focuses on association between the selectivity of Bcr-Abl kinase inhibitors and the spectrum of their adverse effects during treatment of patients with chronic myeloid leukemia.
A. A. Zeifman +3 more
doaj +1 more source
Chronic Diseases and Translational Medicine, EarlyView.Features the major cell type compositions among colon and liver metastasis. (A) The study design for single‐cell data analysis. (B) The annotated major cell types. Each type was labeled with a special color. (C) Dot plot of canonical marker genes for major cell types. (D) Bar plot of the percentage for each cell type in individuals. (E) Bar plot of the
Zhixun Zhao +10 more
wiley +1 more source