Results 41 to 50 of about 9,417,161 (263)

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Molecular Genetics & Genomic Medicine, 2021
Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion.
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy   +20 more
doaj   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Nature Communications
Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited ...
Yilei Fu, Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, Nikhita Gogate, George Weissenberger, Vanessa Vee, Han Yi, Heer H. Mehta, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Daniel G. Calame, Fritz J. Sedlazeck   +13 more
doaj   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj   +1 more source

BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

BMC Genomics, 2018
Background Bisulfite sequencing is widely employed to study the role of DNA methylation in disease; however, the data suffer from biases due to coverage depth variability.
Luli S. Zou, Michael R. Erdos, D. Leland Taylor, Peter S. Chines, Arushi Varshney, The McDonnell Genome Institute, Stephen C. J. Parker, Francis S. Collins, John P. Didion   +8 more
doaj   +1 more source

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

Initial Sequencing and Analysis of the Human Genome [PDF]

, 2001
For a complete list of authors, please look at article.The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution.
International Human Genome Sequencing Consortium
core   +3 more sources

Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR

BioTechniques
RNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli, Hsu Chao, Qi Jiang, Jimmonique Donelson, Nathanael Emerick, Sravya V Bhamidipati, Zeineen Momin, Tittu Mathew, Ziad M. Khan, Viktoriya Korchina, Marie-Claude Gingras, Donna Muzny, Richard Gibbs, Harsha Doddapaneni   +13 more
doaj   +1 more source

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Respiratory Research, 2022
Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF).
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan   +13 more
doaj   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source