Results 91 to 100 of about 6,753,476 (214)

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

ESC Heart Failure, Volume 12, Issue 3, Page 1942-1955, June 2025.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit   +12 more
wiley   +1 more source

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source

Disturbing Cholesterol/Sphingolipid Metabolism by Squalene Epoxidase Arises Crizotinib Hepatotoxicity

Advanced Science, Volume 12, Issue 14, April 10, 2025.
Crizotinib induces excessive accumulation of squalene epoxidase (SQLE) by blocking its autophagic degradation. This accumulation disrupts cholesterol and sphingolipid metabolism, leading to hepatic steatosis or hepatocyte apoptosis, respectively. Autophagy activators, such as metformin, or SQLE enzymatic inhibitors, like terbinafine, possesses the ...
Hao Yan, Xiangliang Huang, Yourong Zhou, Yuan Mu, Shaoyin Zhang, Yashi Cao, Wentong Wu, Zhifei Xu, Xueqin Chen, Xiaochen Zhang, Xiaohong Wang, Xiaochun Yang, Bo Yang, Qiaojun He, Peihua Luo   +14 more
wiley   +1 more source

Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems

Clinical Case Reports, 2023
Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders.
Shabnam Jalilolghadr, Fatemeh Saffari, Mehdi Alizadeh, AliReza Taremiha, Marjan Ghodsi, Mersedeh Ghodsi   +5 more
doaj   +1 more source

Whole Exome Sequencing Study Identifies Distinct Characteristics of Transformed Small Cell Lung Cancer With EGFR Mutation Compared to De Novo Small Cell and Primary Non‐Small Cell Lung Cancers

Cancer Medicine, Volume 14, Issue 7, April 2025.
ABSTRACT Background Epidermal growth factor receptor (EGFR)‐mutated lung adenocarcinoma (LUAD) is the most common subtype among non‐small cell lung cancer (NSCLC) and targeted therapies are the primary approach for treatment. However, the development of resistance to therapy and histological transformation into small cell lung cancer (SCLC) present ...
Jinjing Tan, Dan Zhao, Qunhui Wang, Yanjing Peng, Jie Li, Xi Li, Nanying Che, Ying Hu, Hua Zheng   +8 more
wiley   +1 more source

MASH as an emerging cause of hepatocellular carcinoma: current knowledge and future perspectives

Molecular Oncology, Volume 19, Issue 2, Page 275-294, February 2025.
Metabolic dysfunction‐associated steatohepatitis is emerging as a leading cause of hepatocellular carcinoma in individuals whose lifestyle and dietary habits promote a positive energy balance. Here, we reviewed the role of free fatty acids in mediating lipotoxicity and its implications for organellar stress and genome alteration in hepatocytes ...
Michael Karin, Ju Youn Kim
wiley   +1 more source

Additional file 2 of A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

, 2021
Additional file 2: Supplemental Table 2. Amino Acid Conservation.
Meurs, Kathryn M., Williams, Brian G., DeProspero, Dylan, Friedenberg, Steven G., Malarkey, David E., J. Ashley Ezzell, Keene, Bruce W., Adin, Darcy B., DeFrancesco, Teresa C., Tou, Sandra   +9 more
openaire   +1 more source

Long term exposure to a butter rich diet induces mild-to-moderate steatosis in Chang liver cells and swiss albino mice models [PDF]

, 2017
Background:Butter is one of the widely used fats present in the diet. However, there is no satisfactory study available that evaluates the effect of a high-fat diet containing butter as the principal fat on the development of non-alcoholic fatty liver ...
Kumar, Nitesh, Nalloor, Thomas John Philip, Narayanan, Kasinathan, Palanimuthu, Vasanth Raj   +3 more
core   +1 more source

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
Our study conducted a genetic analysis of a cohort of 69 Chinese RP patients from 36 families. Genetic and phenotypic landscapes of this cohort were performed. Furthermore, three novel variants were identified in this study, and the high frequency variant (NM_001034853.1: c.2236_2237del) of RPGR detected from a big pedigree was discussed in detail ...
He‐nan Sun, Kai‐li Du, Yan Sun, Cong Liu, Jin‐hui Xue, Xin‐xin Wang, Ye liu, Hui‐hui Yu, Jia‐yuan Ge, Jia Rong, Di Wang, Yue Ren, Ji‐jing Pang, Jian‐Kang Li, Zhuo‐Shi Wang   +14 more
wiley   +1 more source

Extensive admixture and selective pressure across the Sahel Belt [PDF]

, 2015
Genome-wide studies of African populations have the potential to reveal powerful insights into the evolution of our species, as these diverse populations have been exposed to intense selective pressures imposed by infectious diseases, diet, and ...
Adeola, Etefa, Etienne Patin, Gurdasani, Lamphear, Lewis, Luisa Pereira, Newman, Oliver-Bever, Patin, Pedro Soares, Petr Triska, Spencer, Teo, UNEP, Veronica Fernandes, Viktor Cerny, WHO   +17 more
core   +1 more source