Results 241 to 250 of about 178,325 (322)

Cancer‐Type‐Specific DNA Methylation Is a Source of Vulnerability in Liver Cancer Cells

Cancer Science, EarlyView.
We profiled genome‐wide DNA methylation in 1165 human cancer cell lines representing 25 cancer types and identified 73 genes as potential liver cancer‐specific methylation‐silenced genes. We selected ASNS, BCAT2, FXYD5, and NQO1 genes for further experimental analysis and demonstrated that aberrant methylation of BCAT2 contributes to the vulnerability ...
Karen Minowa, Miho Seki, Yui Nagai, Satoshi Yamashita   +3 more
wiley   +1 more source

Chromosome segregation dynamics during the cell cycle ofStaphylococcus aureus

Izquierdo-Martinez A, Schäper S, Brito AD, Liao Q, Tesseur C, Sorg M, Botinas DS, Wang X, Pinho MG.   +8 more
europepmc   +1 more source

CAMSAP2 is required for bridging fiber assembly to ensure mitotic spindle assembly and chromosome segregation in human epithelial Caco-2 cells. [PDF]

PLoS One
Nishizawa N, Arai R, Hiranuma K, Toya M, Sato M.   +4 more
europepmc   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, EarlyView.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency

Clinical Genetics, EarlyView.
BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson, Anna Hammarsjö, Anna Lindstrand, Ann Nordgren, Giedre Grigelioniene, Maritta Hellström Pigg   +5 more
wiley   +1 more source

The role of DNA topoisomerase 1α (AtTOP1α) in regulating arabidopsis meiotic recombination and chromosome segregation. [PDF]

PeerJ
Elesawi IE, Hashem AM, Yao L, Maher M, Hassanin AA, Abd El-Moneim D, Safhi FA, Al Aboud NM, Alshamrani SM, Shehata WF, Chunli C.   +10 more
europepmc   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Developmental signals control chromosome segregation fidelity during pluripotency and neurogenesis by modulating replicative stress. [PDF]

Nat Commun
de Jaime-Soguero A, Hattemer J, Bufe A, Haas A, van den Berg J, van Batenburg V, Das B, di Marco B, Androulaki S, Böhly N, Landry JJM, Schoell B, Rosa VS, Villacorta L, Baskan Y, Trapp M, Benes V, Chabes A, Shahbazi M, Jauch A, Engel U, Patrizi A, Sotillo R, van Oudenaarden A, Bageritz J, Alfonso J, Bastians H, Acebrón SP.   +27 more
europepmc   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Unraveling the structure and function of a novel SegC protein interacting with the SegAB chromosome segregation complex in Archaea. [PDF]

Nucleic Acids Res
Lin MG, Yen CY, Shen YY, Huang YS, Ng IW, Barillà D, Sun YJ, Hsiao CD.   +7 more
europepmc   +1 more source