Results 61 to 70 of about 12,100,252 (298)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

Molecular Genetics & Genomic Medicine, 2019
Background Mucopolysaccharidosis type I (MPS I) is a rare, recessively inherited lysosomal storage disorder, characterized by progressive multi‐systemic disease.
Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz   +9 more
doaj   +1 more source

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Molecular Genetics & Genomic Medicine, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik   +7 more
doaj   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Copy number variations in alternative splicing gene networks impact lifespan.

PLoS ONE, 2013
Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan.
Joseph T Glessner, Albert Vernon Smith, Saarene Panossian, Cecilia E Kim, Nagahide Takahashi, Kelly A Thomas, Fengxiang Wang, Kallyn Seidler, Tamara B Harris, Lenore J Launer, Brendan Keating, John Connolly, Patrick M A Sleiman, Joseph D Buxbaum, Struan F A Grant, Vilmundur Gudnason, Hakon Hakonarson   +16 more
doaj   +1 more source

List of pathogenic (P) copy number variations in patients presenting with hypospadias.

, 2013
List of pathogenic (P) copy number variations in patients presenting with hypospadias.
Sung-Hae L. Kang (360379), Mounia Tannour-Louet (360374), Shuo Han (360375), Svetlana Yatsenko (360378), Lindsay Meyers (200200), Chad A. Shaw (94130), Jean-Francois Louet (360377), Sean T. Corbett (360376), Dolores J. Lamb (360380), Sau Wai Cheung (163977)   +9 more
core   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort

, 2013
Copy number variations (CNVs) as described in the healthy population are purported to contribute significantly to genetic heterogeneity. Recent studies have described CNVs using lymphoblastoid cell lines or by application of specifically developed ...
Bryce, M., Hickman, P. E., Potter, J. M., Koerbin, G., Chia, N. L., Glasgow, N., Danoy, P., Brown, M. A., Cavanaugh, J., Koerbin, Gus, Bryce, Michaela, Potter, Julia, Hickman, Peter, Brown, M. A, Chia, Nicole, Danoy, P, Glasgow, Nicholas, Cavanaugh, Juleen   +17 more
core   +2 more sources

Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

Frontiers in Genetics, 2022
Background/objective: Identification of key genetic alterations is of importance in the targeted therapies of primary central nervous system lymphoma (PCNSL). However, only a small number of studies have been carried out in PCNSL.
Qiong Zhu, Jianchao Wang, Wenfang Zhang, Weifeng Zhu, Zaizeng Wu, Yanping Chen, Musheng Chen, Limei Zheng, Jianqing Tang, Sheng Zhang, Di Wang, Xingfu Wang, Gang Chen   +12 more
doaj   +1 more source

The role of genomic Copy Number Variation (CNV) in osteoporosis [PDF]

, 2012
Copy number variation (CNV) is a relatively novel source of genetic variation, involving the duplication or deletion of segments of genomic DNA (gDNA) sequence, thereby changing the original number of DNA copies.
Connolly, Kate
core  

Differentially expressed genes associated with copy number variations in autotetraploid rice.

, 2018
Differentially expressed genes associated with copy number variations in autotetraploid rice.
Xiang Li (114679), Yamin Jiao (5598293), Hang Yu (278278), Xiangdong Liu (79858), Jinwen Wu (3722080), Muhammad Qasim Shahid (840583)   +5 more
core   +1 more source