Results 101 to 110 of about 13,098 (176)

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions

Human Mutation, Volume 2026, Issue 1, 2026.
Information on the health‐related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations involving chromosome 6 by providing parents of affected children with information on the expected phenotypes of their ...
Eleana Rraku, Tyler D. Medina, Conny M. A. van Ravenswaaij-Arts, Mariska K. Slofstra, Morris A. Swertz, Trijnie Dijkhuizen, Lennart F. Johansson, Aafke Engwerda, Priya Gusain   +8 more
wiley   +1 more source

Modulation by geraniol of gene expression involved in lipid metabolism leading to a reduction of serum-cholesterol and triglyceride levels [PDF]

, 2015
Background: Geraniol (G) is a natural isoprenoid present in the essential oils of several aromatic plants, with various biochemical and pharmacologic properties.
Castro, Maria Agustina, Crespo, Rosana, Galle, Marianela Edith, García de Bravo, Margarita, Lacunza, Ezequiel, Montero Villegas, Sandra, Polo, Monica Patricia, Rodenak Kladniew, Boris Emilio   +7 more
core   +2 more sources

Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults

International Journal of Cancer, Volume 157, Issue 12, Page 2447-2454, 15 December 2025.
What's New? Investigating the spectrum of (likely) pathogenic germline variants (LP/PVs) in hereditary breast and ovarian cancer (HBOC) genes in pediatric malignancies by unselected genotyping identified 44% (12/27) of clinically unsuspected cases. Burden testing demonstrated considerable associations between monoallelic LP/PVs in five HBOC genes and ...
Katharina Daugs, Danielle Brandes, Layal Yasin, Ammarah Anwar, Jubayer Alam, Yash Prasad, Jil Bartrina y Manns, Melina Mescher, Ute Fischer, Arndt Borkhardt, Triantafyllia Brozou, Stefanie V. Junk   +11 more
wiley   +1 more source

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster

Frontiers in Physiology, 2019
Cytochrome c oxidase (COX) deficiency is the biochemical hallmark of several mitochondrial disorders, including subjects affected by mutations in apoptogenic-1 (APOPT1), recently renamed as COA8 (HGNC:20492).
Michele Brischigliaro, Samantha Corrà, Claudia Tregnago, Erika Fernandez-Vizarra, Massimo Zeviani, Massimo Zeviani, Rodolfo Costa, Cristiano De Pittà   +7 more
doaj   +1 more source

Tumor clusters with divergent inflammation and human retroelement expression determine the clinical outcome of patients with serous ovarian cancer

Molecular Oncology, Volume 19, Issue 12, Page 3750-3768, December 2025.
Analysis of treatment‐naïve high‐grade serous ovarian carcinoma (HGSOC) and control tissues for ERVs, LINE‐1 (L1), inflammation, and immune checkpoints identified five clusters with diverse patient recurrence‐free survivals. An inflammation score was calculated and correlated with retroelement expression, where one novel cluster (Triple‐I) with high ...
Laura Glossner, Markus Eckstein, Christoph Mark, Matthias W. Beckmann, Arndt Hartmann, Pamela L. Strissel, Reiner Strick   +6 more
wiley   +1 more source

Genome-wide transcriptomics of aging in the rotifer Brachionus manjavacas, an emerging model system [PDF]

, 2017
© The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in BMC Genomics 18 (2017): 217, doi:10.1186/s12864-017-3540-x.Understanding gene expression changes over ...
Gribble, Kristin E., Mark Welch, David B.   +1 more
core   +2 more sources

Fuelling Neuroblastoma: Genomic Analysis of Ketolytic and Glycolytic Gene Expression in Relation to MYCN Oncogene Amplification, Stage and Prognosis

Cancer Reports, Volume 8, Issue 12, December 2025.
ABSTRACT Background Neuroblastoma (NB) is a childhood cancer of the sympathetic nervous system, and its prognosis is poor. NB cells undergo transcriptional changes to utilise aerobic glycolysis as their primary metabolic pathway, which provides an immediate source of ATP to meet high biosynthetic demands.
Joseph W. Molloy, Karl Keogh, Mary‐Kate McLoughlin, Lauren Devitt, David Lee, Eric Downer, David Robert Grimes, Denis Barry   +7 more
wiley   +1 more source

Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm

Frontiers in Medicine
Certain types of fetal cardiac rhabdomyomas can lead to severe complications, including intrauterine death, yet no specific criteria have been established for the prenatal use of pharmacological therapies to mitigate the impact of rhabdomyomas.
Alfonso Martinez-Garcia, Alfonso Martinez-Garcia, Omar A. Tirado-Aguilar, Sandra Acevedo-Gallegos, Juan M. Gallardo-Gaona, Berenice Velazquez-Torres, Jose A. Ramirez-Calvo, Dulce M. A. Camarena-Cabrera, Maria J. Rodriguez-Sibaja, Mario I. Lumbreras-Marquez, Mario I. Lumbreras-Marquez, Mario I. Lumbreras-Marquez, Yazmin Copado-Mendoza, Yazmin Copado-Mendoza   +13 more
doaj   +1 more source

Retracted: MiR‐191‐5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway

Molecular Genetics & Genomic Medicine, 2020
Background To investigate the function of miR‐191‐5p in lung adenocarcinoma and its possible mechanism. Methods QRT‐PCR was adopted for the detection of the expression levels of miR‐191‐5p and SATB1 (HGNC: 10541).
Lai‐yong Zhou, Fu‐wei Zhang, Jian Tong, Fang Liu   +3 more
doaj   +1 more source

CD Molecules Nomenclature 2025: Antibody Validation and Expression Profiling of Immune System G Protein‐Coupled Receptors

European Journal of Immunology, Volume 55, Issue 12, December 2025.
HLDA Workshops were established 40 years ago to develop a standardized CD molecule nomenclature for leukocyte cell‐surface molecules by comparing monoclonal antibodies (mAbs) produced by different laboratories and companies. The HLDA11 Workshop focused on validating G‐protein‐coupled receptors (GPCRs) targeting mAbs and assessing cell‐type‐specific ...
Javier Fernández‐Calles, Daniela Kužílková, Fanny Hedin, Violeta Bakardjieva‐Mihaylova, Karolina Škvárová Kramarzová, Menno C. van Zelm, Antonio Cosma, Tomas Kalina, Pablo Engel, the Human Cell Differentiation Molecules (HCDM) organization   +9 more
wiley   +1 more source