Results 141 to 150 of about 3,777,350 (304)

Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape [PDF]

Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are crucial within the context of breast cancer (BC) research. They play a role in the detection of predisposed genes, risk stratification, and identification of rare single nucleotide ...
Adheesh Ghosh, Joecelyn Kirani Tan, Vatsala Khurana, Carola Maria Bigogno, Boussios, S., Ana Simmons, Akash Maniam, Olubukola Ayodele, Ishika Mahajan, Hetvi Ganatra, Aruni Ghose   +10 more
core  

Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus

FEBS Open Bio, EarlyView.
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima, Gustavo Narvaes Guimarães, Emilyane de Oliveira Santana Amaral, Bianca Caroline Figueiredo Bianco, Manuel Jara‐Espejo, Sérgio Roberto Peres Line, Ana Paula de Souza, Aline Cristiane Planello   +7 more
wiley   +1 more source

Salmonella enterica serovar typhi limits the potency of typhoid toxin and ADP‐ribosylating toxin AB to establish a persistent infection

FEBS Open Bio, EarlyView.
The two catalytic subunits of typhoid toxin dissociate from the holotoxin in the ER of an intoxicated cell, but only CdtB exits the ER to generate immunosuppressive effects. PltA is retained in the ER and sequestered from its cytosolic target, thus allowing the anti‐inflammatory effects of CdtB to promote intestinal colonization.
Maria C. Zabala‐Rodriguez, Juliette K. Tinker, Teresa Frisan, Taj Azarian, Ken Teter   +4 more
wiley   +1 more source

Editorial: Whole Genome Sequencing for rare diseases

Frontiers in Medicine, 2023
Chiara Di Resta, Chiara Di Resta, Valeria D'Argenio, Valeria D'Argenio   +3 more
doaj   +1 more source

A minimal cellulosome‐like system in Cellulosilyticum lentocellum

FEBS Open Bio, EarlyView.
Cellulose‐degrading bacteria typically use cellulosomes, large multi‐enzyme complexes on a scaffold protein. In Cellulosilyticum lentocellum, we characterise a far smaller arrangement, a single scaffold bound to one cellulase through a single cohesin‐dockerin interaction.
John Allan, Amias Alstrom‐Moore, Gary W Black   +2 more
wiley   +1 more source

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Whole-Exome and Whole-Genome Sequencing of Candidate Pharmacogenomic and Schizophrenia-Related Genes in Sudanese Families with Schizophrenia

Pharmacogenomics and Personalized Medicine
Safa A Abdalla,1,2 Azza Saeed,3 Lamees Ahmed,3 Safa Abuswar,3 Mudathir Salih,3 Amel Eltigani,4 Iman H Abdoon,1 Bashier Osman,1 Muntaser E Ibrahim31Department of Pharmacology, Faculty of Pharmacy, University of Khartoum, Khartoum, Sudan; 2Department of ...
Abdalla SA, Saeed A, Ahmed L, Abuswar S, Salih M, Eltigani A, Abdoon IH, Osman B, Ibrahim ME   +8 more
doaj  

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Improved influenza A whole-genome sequencing protocol

Frontiers in Cellular and Infection Microbiology
Influenza A virus poses significant public health challenges due to its high mutation rate and zoonotic potential. Whole-genome sequencing (WGS) is crucial for monitoring and characterizing these viruses.
Iryna V. Goraichuk, Jacquline Risalvato, Mary Pantin-Jackwood, David L. Suarez   +3 more
doaj   +1 more source