Results 31 to 40 of about 3,322,892 (202)

Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]

, 2013
: BACKGROUND: Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced.
Srirangalingam, U, Navaratnam, N, Chew, SL, Norman, D, Khoo, B, Akker, SA   +5 more
core   +1 more source

N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3′ Splice Site Function in Vivo

G3: Genes, Genomes, Genetics, 2016
Metazoan introns contain a polypyrimidine tract immediately upstream of the AG dinucleotide that defines the 3′ splice site. In the nematode Caenorhabditis elegans, 3′ splice sites are characterized by a highly conserved UUUUCAG/R octamer motif.
Omar A. Itani, Stephane Flibotte, Kathleen J. Dumas, Chunfang Guo, Thomas Blumenthal, Patrick J. Hu   +5 more
doaj   +1 more source

Two Cockayne Syndrome patients with a novel splice site mutation – clinical and metabolic analyses

, 2018
Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging. Most of the cases are due to mutations in the ERCC6 gene, which encodes the protein CSB.
Diget Aamann, María, Østergaard, John R., Stevnsner, Tinna, Østergaard, John, Aamann, Maria Diget, Sánchez Román, Inés, Lautrup, Sofie, Sánchez-Román Rojas, Inés, Neilan, Edward G., Neilan, Edward   +9 more
core   +1 more source

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2

罕见病研究, 2022
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure.
LING Chen, CHEN Zhi, LIU Xiaorong
doaj   +1 more source

Computational methods for splice site prediction [PDF]

, 2006
Taher L. Computational methods for splice site prediction. Bielefeld (Germany): Bielefeld University; 2006.Completing the genome sequence of a given organism is just the beginning of a series of subsequent tasks, namely, the discovery of the ...
Taher, Leila
core  

Splice site mutation identified in Indian type 3 VWD patients.

, 2014
Splice site mutation identified in Indian type 3 VWD patients.
Priyanka Kasatkar (544011), Kanjaksha Ghosh (487786), Shrimati Shetty (487788)   +2 more
core   +1 more source

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +1 more source

An ADAMTS17 splice donor site mutation in dogs with primary lens luxation [PDF]

, 2010
PURPOSE. To identify the genetic cause of isolated canine ectopia lentis, a well-characterized veterinary disease commonly referred to as primary lens luxation (PLL) and to compare the canine disease with a newly described human Weill-Marchesani syndrome
Fabiana H G Farias, Jeremy F Taylor, O'Leary, Caroline A., Oliver P Forman, Sanders, Douglas N., Boursnell, Mike, Farias, Fabiana H. G., McKay, Stephanie D., Mellersh, Cathryn, David J Gould, Taylor, Jeremy F., Bryan Mclaughlin, Giuliano, Elizabeth, Khan, Shahnawaz, Gharahkhani, Puya, Forman, Oliver P., Ahonen, Saija, Douglas N Sanders, Johnson, Gary S., Gary S Johnson, Sargan, David R., Katz, Martin L., Elizabeth Giuliano, Lohi, Hannes, Hernandez-Merino, Elena, Gould, David J., Louise Pettitt, Stephanie D Mckay, Cathryn Mellersh, Pettitt, Louise, Puya Gharahkhani, Caroline A O'leary, David R Sargan, McLaughlin, Bryan, Mike Boursnell, Robert D Schnabel, Elena Hernandez-Merino, Martin L Katz, Schnabel, Robert D., Shahnawaz Khan   +39 more
core   +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