Results 91 to 100 of about 59,619 (217)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression [PDF]

, 1998
The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control
Attardi, Giuseppe, Enriquez, José Antonio, Fischel-Ghodsian, Nathan, Guan, Min-Xin, Lin, Catherine P., Maw, Marion A., Puranam, Ram S.   +6 more
core   +1 more source

Serial Spatial Transcriptomes Reveal Regulatory Transitions in Maize Leaf Development

Plant Biotechnology Journal, Volume 24, Issue 5, Page 2787-2810, May 2026.
ABSTRACT Plant leaves originate from the shoot apical meristem (SAM) and undergo a developmental process of highly coordinated gene expression regulation. To date, only a few key regulators have been identified and characterised, so the gene expression cascades responsible for leaf cell specification and differentiation from SAM remain largely elusive.
Chi‐Chih Wu, Ludvig Larsson, Kun‐Ting Hsieh, Chun‐Ping Yu, Yi‐Hua Chen, Kai‐Hsuan Ding, Ho‐Chun Yang, Joakim Lundeberg, Chin‐Min Kimmy Ho, Shu‐Hsing Wu, Mei‐Yeh Jade Lu, Wen‐Hsiung Li   +11 more
wiley   +1 more source

Structural alignment of RNA with triple helix structure [PDF]

, 2012
Structural alignment is useful in identifying members of ncRNAs. Existing tools are all based on the secondary structures of the molecules. There is evidence showing that tertiary interactions (the interaction between a single-stranded nucleotide and a ...
Wong, TKF, Yiu, SM
core   +1 more source

Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift. [PDF]

Proceedings of the National Academy of Sciences, 1995
A single-base-pair deletion in exon 7 of the human carbonic anhydrase II gene was found to be the molecular defect in a group of independently ascertained, clinically heterogeneous, Hispanic carbonic anhydrase II-deficient patients, all of whom had ancestors from the Caribbean islands.
P Y, Hu, A, Waheed, W S, Sly
openaire   +2 more sources

Stress Granule‐Associated ZmCTU2 Confers Thermotolerance in Maize via Coordinated Regulation of Proteostasis and ROS Homeostasis

Plant Biotechnology Journal, Volume 24, Issue 5, Page 3371-3390, May 2026.
ABSTRACT The escalating global temperatures and intensifying heat stress events pose significant threats to maize productivity worldwide. Uncovering key thermotolerance genes and their functional mechanisms is thus critical for developing climate‐resilient crops.
Yufang Xu, Yudong Fan, Yulian Li, Yilin Zhang, Enpeng Liu, Ruiqi Li, Peipei Ma, Tao Li, Huiyong Zhang   +8 more
wiley   +1 more source

Molecular biology and epidemiology of dianthoviruses. [PDF]

, 2013
The genus Dianthovirus is one of eight genera in the family Tombusviridae. All the genera have monopartite positive-stranded RNA genomes, except the dianthoviruses which have bipartite genomes. The dianthoviruses are distributed worldwide.
Hiruki, Chuji, Okuno, Tetsuro
core   +1 more source

Characterization of the frameshift signal of Edr, a mammalian example of programmed -1 ribosomal frameshifting [PDF]

Nucleic Acids Research, 2005
The ribosomal frameshifting signal of the mouse embryonal carcinoma differentiation regulated (Edr) gene represents the sole documented example of programmed -1 frameshifting in mammalian cellular genes [Shigemoto,K., Brennan,J., Walls,E,. Watson,C.J., Stott,D., Rigby,P.W. and Reith,A.D. (2001), Nucleic Acids Res., 29, 4079-4088].
Manktelow, Emily, Shigemoto, Kazuhiro, Brierley, Ian   +2 more
openaire   +2 more sources

Maize Anther Development Involves Translated Open Reading Frames From 3′ Untranslated Regions

Advanced Science, Volume 13, Issue 23, 23 April 2026.
This study examined the translation activity across ten stages of maize anther development, integrating transcriptome and small‐peptide data. It linked mutations in translated 3' ORFs to anther sterility, exemplified by Zm00001eb417050_3' ORF (known as APV1). In addition, the data indicated that maize anthers could assimilate CO2 through the stomata in
Chunyu Wang, Yuechao Wu, Shunxi Wang, Han Liu, Siqi Jiang, Yingjia Han, Liuji Wu, Tao Zhang, Mei Zhang   +8 more
wiley   +1 more source

Translation termination depends on the sequential ribosomal entry of eRF1 and eRF3.

, 2019
Translation termination requires eRF1 and eRF3 for polypeptide-and tRNA-release on stop codons. Additionally, Dbp5/DDX19 and Rli1/ABCE1 are required; however, their function in this process is currently unknown.
Beissel , C., Hampe , I., Karki, P., Krebber, H., Neumann, B., Uhse, S.   +5 more
core   +1 more source