Results 31 to 40 of about 1,791,159 (252)

Synonymous alterations of cancer-associated Trp53 CpG mutational hotspots cause fatal developmental jaw malocclusions but no tumors in knock-in mice.

PLoS ONE, 2023
Intragenic CpG dinucleotides are tightly conserved in evolution yet are also vulnerable to methylation-dependent mutation, raising the question as to why these functionally critical sites have not been deselected by more stable coding sequences.
Richard J Epstein, Frank P Y Lin, Robert A Brink, James Blackburn   +3 more
doaj   +2 more sources

Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease

Translational Psychiatry, 2021
Despite recent discoveries in genome-wide association studies (GWAS) of genomic variants associated with Alzheimer’s disease (AD), its underlying biological mechanisms are still elusive. The discovery of novel AD-associated genetic variants, particularly
Liang He, Yury Loika, Yongjin P. Park, D. Bennett, Manolis Kellis, A. Kulminski   +5 more
semanticscholar   +1 more source

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao   +10 more
doaj   +1 more source

Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations

Molecular Metabolism, 2022
Objective: Deep sequencing offers unparalleled access to rare variants in human populations. Understanding their role in disease is a priority, yet prohibitive sequencing costs mean that many cohorts lack the sample size to discover these effects on ...
Arthur Gilly, Lucija Klaric, Young-Chan Park, Grace Png, Andrei Barysenka, Joseph A. Marsh, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, James F. Wilson, Eleftheria Zeggini   +10 more
doaj   +1 more source

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

Clinical and Experimental Nephrology, 2022
Background and objectives The evident genotype–phenotype correlation shown by the X-linked Alport syndrome warrants the assessment of the impact of identified gene variants on aberrant splicing.
Eri Okada, Yuya Aoto, T. Horinouchi, Tomohiko Yamamura, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, N. Sakakibara, Ryota Suzuki, Joichi Usui, K. Yamagata, K. Iijima, K. Nozu   +14 more
semanticscholar   +1 more source

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Churbanov Alexander, Vořechovský, Igor, Chindo Hicks, Vořechovský Igor, Hicks Chindo, Igor Vořechovský, Alexander Churbanov   +8 more
core   +1 more source

Space-variant picture coding [PDF]

, 2010
PhDSpace-variant picture coding techniques exploit the strong spatial non-uniformity of the human visual system in order to increase coding efficiency in terms of perceived quality per bit.
Popkin, Timothy John
core   +4 more sources

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

Molecular Genetics & Genomic Medicine, 2020
Background Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases ...
Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi, Gabriella Esposito   +5 more
doaj   +1 more source

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis

Case Reports in Nephrology and Dialysis, 2021
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
doaj   +1 more source