Results 51 to 60 of about 132,731 (277)

Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome [PDF]

Molecular Syndromology, 2013
CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene <i>CHD7</i> are reported to be a major cause of CHARGE syndrome. Herein,
Martínez Quintana, Efrén, Rodríguez-González, F., Garay-Sánchez, P., Tugores, A.   +3 more
openaire   +3 more sources

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Corticotropinoma as a Component of Carney Complex. [PDF]

, 2017
Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown.
Chittiboina, Prashant, Dimopoulos, Aggeliki, Faucz, Fabio R, Hernández-Ramírez, Laura C, Kay, Denise M, Lane, John, Lodish, Maya B, Mills, James L, Pankratz, Nathan, Stratakis, Constantine A, Tatsi, Christina, Valdés, Nuria   +11 more
core   +2 more sources

Hypoxia increases mutational load of breast cancer cells through frameshift mutations [PDF]

OncoImmunology, 2020
Tumor hypoxia-induced downregulation of DNA repair pathways and enhanced replication stress are potential sources of genomic instability. A plethora of genetic changes such as point mutations, large deletions and duplications, microsatellite and chromosomal instability have been discovered in cells under hypoxic stress.
Goutham Hassan Venkatesh, Pamela Bravo, Walid Shaaban Moustafa Elsayed, Francis Amirtharaj, Bartosz Wojtas, Raefa Abou Khouzam, Husam Hussein Nawafleh, Sandeep Mallya, Kapaettu Satyamoorthy, Philippe Dessen, Filippo Rosselli, Jerome Thiery, Salem Chouaib   +12 more
openaire   +4 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

A genetic network that suppresses genome rearrangements in Saccharomyces cerevisiae and contains defects in cancers. [PDF]

, 2016
Gross chromosomal rearrangements (GCRs) play an important role in human diseases, including cancer. The identity of all Genome Instability Suppressing (GIS) genes is not currently known.
Bell, Sara N, Clotfelter, Sarah P, de Souza, Jorge ES, de Souza, Sandro J, Fonseca, André F, Kolodner, Richard D, Martinez, Sandra L, Nene, Rahul V, Putnam, Christopher D, Somach, Steven B, Srivatsan, Anjana   +10 more
core   +2 more sources

PARP inhibitors induce a senescence phenotype in non‐small cell lung carcinoma cell lines

FEBS Open Bio, EarlyView.
Talazoparib is the most potent inducer of senescence among different PARP1 inhibitors in human NSCLC cells. In the absence of PARP, no senescence phenotype was observed, demonstrating that PARP1 is necessary for the induction of senescence by this inhibitor.
Camille Huart, Manon Van den Abbeel, Christoph Schifflers, Karim Bouhjar, Andrea Scarmelotto, Alexis Khelfi, Anne‐Catherine Wera, Carine Michiels   +7 more
wiley   +1 more source

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources