Results 101 to 110 of about 640,277 (286)

UGA Nonsense Mutations in Salmonella typhimurium [PDF]

Journal of Bacteriology, 1970
Salmonella typhimurium strain LT-2 carries a weak UGA suppressor activity. This activity prevents the detection of some UGA mutants as auxotrophs and probably accounts for the rarity of his UGA mutants in this strain.
openaire   +2 more sources

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

Palaeoproteomic Deconvolution of Physical and Genetic Collagen Mixtures

Advanced Science, EarlyView.
ClassiCOL_v2 uses a novel “peptide patching” framework that treats any collagen sample as a patchwork of peptide sequences derived from phylogenetically related species. This allows the algorithm to simultaneously resolve two previously intractable problems: multi‐species samples and/or database deficiencies.
Ian Engels, Tristan Dedrie, Synnøve K. Mo, Simon Van de Vyver, Thijs R. A. Vandenbroucke, Kévin Di Modíca, Jan Decher, Alice Toso, Dieter Deforce, Simon Daled, Alexandra Burnett, Grégory Abrams, Maarten Dhaenens   +12 more
wiley   +1 more source

Variable readthrough responsiveness of nonsense mutations in hemophilia A

Haematologica, 2019
Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In patients with hemophilia A, nonsense mutations potentially
Lluis Martorell, Vicente Cortina, Rafael Parra, Jordi Barquinero, Francisco Vidal   +4 more
openaire   +4 more sources

The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32 [PDF]

, 2010
Retinitis pigmentosa (RP) is a severe hereditary eye disorder characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod
Biel Martin, Hennel, Roman, Biel, Martin, Hammelmann, Verena, Michalakis, Stylianos, Elvir Becirovic, Roman Hennel, Kostadinka Nakova, Hennel Roman, Becirovic Elvir, Hammelmann Verena, Becirovic, Elvir; https://orcid.org/, Nakova, Kostadinka, Nakova Kostadinka, Martin Biel, Stylianos Michalakis, Michalakis Stylianos, Becirovic, Elvir, Verena Hammelmann   +18 more
core   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation

The Turkish Journal of Pediatrics, 2017
Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy.
Osman Yeşilbaş, Esra Şevketoğlu, Mey Talip Petmezci, Hasan Serdar Kıhtır, Meryem Benzer, Afig Berdeli   +5 more
doaj   +1 more source

AI‐Driven Cancer Multi‐Omics: A Review From the Data Pipeline Perspective

Advanced Intelligent Discovery, EarlyView.
The exponential growth of cancer multi‐omics data brings opportunities and challenges for precision oncology. This review systematically examines AI's role in addressing these challenges, covering generative models, integration architectures, Explainable AI for clinical trust, clinical applications, and key directions for clinical translation.
Shilong Liu, Shunxiang Li, Kun Qian
wiley   +1 more source

A nonsense mutation in PLD4 [PDF]

, 2014
Background: Bovine hereditary zinc deficiency (BHZD) is an autosomal recessive disorder of cattle, first described in Holstein-Friesian animals. Affected calves suffer from severe skin lesions and show a poor general health status. Recently, eight calves
Schwarzenbacher, Hermann, Langenmayer, Martin C., Hubert Pausch, Jung, Simone, Hermann Schwarzenbacher, Martin C Langenmayer, Simone Jung, Fries, Ruedi, Ruedi Fries, Pausch, Hubert, Majzoub-Altweck, Monir, Monir Majzoub-Altweck, Gollnick, Nicole S., Nicole S Gollnick   +13 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source