Results 221 to 230 of about 97,540 (294)

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Unveiling an ancient whole-genome duplication event in Stentor, the model unicellular eukaryotes. [PDF]

Sci China Life Sci
Zheng W, Li C, Zhou Z, Chen X, Lynch M, Yan Y.   +5 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Investigating the Impact of Whole-Genome Duplication on Transposable Element Evolution in Teleost Fishes. [PDF]

Genome Biol Evol
Mallik R, Wcisel DJ, Near TJ, Yoder JA, Dornburg A.   +4 more
europepmc   +1 more source

CCL26‐Mediated Modulation of Endothelial Secretome by Hypoxia‐Induced Tumor‐Derived Exosomes Enhances Metastatic Progression in Head and Neck Cancer

Head &Neck, EarlyView.
ABSTRACT Background Tumor cells adapt to hypoxia by releasing hiTDExs enriched with bioactive molecules that modulate endothelial behavior and promote tumor progression. This study aimed to characterize how hypoxia‐induced HNSCC exosomes reshape the endothelial secretome and contribute to metastatic potential.
Ozel Capik, Sevil Tekman, Betul Gundogdu, Ahsen Kilic, Rumeysa Polat, Omer Aydin, Omer Faruk Karatas   +6 more
wiley   +1 more source

RETRACTED: Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +1 more source

A chromosome-level genome assembly of the varied leaved jewelflower, Streptanthus diversifolius, reveals a recent whole genome duplication. [PDF]

G3 (Bethesda)
Davis JT, Li Q, Grassa CJ, Davis MW, Strauss SY, Gremer JR, Rieseberg LH, Maloof JN.   +7 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Repeated shifts out of tropical climates preceded by whole genome duplication. [PDF]

New Phytol
Carruthers T, Gonçalves DJP, Li P, Chanderbali AS, Dick CW, Fritsch PW, Larson DA, Soltis DE, Soltis PS, Weaver WN, Smith SA.   +10 more
europepmc   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source