Results 151 to 160 of about 2,902,010 (219)

Uncovering the role of the PPR protein PHOTOSYSTEM ONE BIOGENESIS FACTOR6 in splicing chloroplast group II introns

Journal of Integrative Plant Biology, EarlyView.
The P‐class pentatricopeptide repeat (PPR) protein PHOTOSYSTEM ONE BIOGENESIS FACTOR (PBF6) forms splicing complexes with other known splicing factors to facilitate chloroplast intron splicing. PBF6 cooperates with other PPR splicing factors to promote the splicing of the same intron through forming respective splicing complexes.
Mengyu Li, Mengwei Sun, Jinlian Lv, Mingming Song, Siyu Lu, Aihong Zhang, Congming Lu   +6 more
wiley   +1 more source

Expanding the Genomic Spectrum of <i>NHLRC2</i>-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. [PDF]

Int J Mol Sci
Rozhkova AV, Esibov AA, Borkovskaia AN, Rutkovskaya EA, Groznova OS, Sagaydak OV, Doroshchuk NA, Krupinova JA, Mityaeva ON, Woroncow M, Bogdanov VP, Volchkov PY.   +11 more
europepmc   +1 more source

Structural Variations Contribute to Subspeciation and Yield Heterosis in Rice

Plant Biotechnology Journal, EarlyView.
ABSTRACT Yield heterosis has been extensively exploited in hybrid breeding, with intersubspecific hybrids often exhibiting the most pronounced effects. However, developing elite hybrids remains a laborious and time‐consuming process. The genetic basis of heterosis has been debated for over a century, hindered largely by the lack of high‐quality genomes.
Zhiwu Dan, Yunping Chen, Wenchao Huang
wiley   +1 more source

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome. [PDF]

Haematologica
Kanezaki R, Toki T, Okuse R, Kobayashi A, Sato M, Kimura S, Kudo K, Sato T, Tanaka T, Yoshida K, Kawai Y, Tokunaga K, Takita J, Ogawa S, Terui K, Ito E.   +15 more
europepmc   +1 more source

Revealing the Key Genetic Basis of Late Leaf Spot Resistance in Peanut by Combining QTL Mapping, QTL‐seq and RNA‐seq

Plant, Cell &Environment, EarlyView.
ABSTRACT Late leaf spot (LLS) is the most widespread and destructive fungal disease affecting peanut worldwide, yet relatively little is known about its genetic basis. In this study, QTL mapping using a 1327‐bin map (derived from 9533 SNP/InDel markers) and multi‐environment phenotypic data repeatedly detected two major LLS‐resistance QTLs on ...
Wenhui Cui, Pengxia Guo, Bolun Yu, Huifang Jiang, Yong Lei, Boshou Liao, Huaiyong Luo, Xin Wang, Li Huang, Nian Liu, Jianbing Guo, Weigang Chen, Xiaojing Zhou   +12 more
wiley   +1 more source

Epigenetic signatures of attention problems in youth with childhood exposure to family and community violence

Psychiatry and Clinical Neurosciences, EarlyView.
Aim The link between violence‐related epigenetic changes and attentional problems (APs) is still not well understood. This article examines if exposure to family and community violence during childhood and adolescence may shape DNA methylation patterns associated with attention in youth.
Renata Queiroz Ramos, Adriane Feijó Evangelista, Cosme Marcelo Furtado Passos da Silva, Fernanda Serpeloni, Joviana Quintes Avanci, Natasha Reis Lacerda, Simone Gonçalves de Assis   +6 more
wiley   +1 more source

UV signature mutation hyperhotspots as genomic dosimeters

Photochemistry and Photobiology, EarlyView.
Recurrent UV signature mutations are a sensitive and specific indicator of sun exposure. UV signature mutations (C → T mutations at dipyrimidine sites) were quantified using Duplex Sequencing and a stringent mutation calling protocol to identify true low‐abundance mutations.
Vijay Menon, Alejandro García‐Ruiz, Susan Neveu, Brenda Cartmel, Leah M. Ferrucci, Meg Palmatier, Christine Ko, Kenneth Y. Tsai, Mio Nakamura, Sa Rang Kim, Michael Girardi, Karl Kornacker, Douglas E. Brash   +12 more
wiley   +1 more source

Molecular characterization of CD36 deficiency in blood donors of Middle Eastern and African origin reveals transcript‐level defects beyond genomic variants

Transfusion, EarlyView.
Abstract Background The increasing diversity of blood donor populations has created new challenges for transfusion services worldwide. The identification of donors lacking relevant high‐prevalence antigens is becoming increasingly important to ensure compatible blood products for alloimmunized patients and to support the development of rare donor ...
Sarah Petermann, Inga Stellmacher, Brigitte K. Flesch, Tanja Rehling, Irina Häcker, Marc F. Schetelig, Alexander Carbol, Lambros Kordelas   +7 more
wiley   +1 more source

A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella

The Application of Clinical Genetics
Yaxian Ma,1,2,&ast; Yuecheng Yang,3,4,&ast; Tong Zhang,1,2 Daoheng Hu,5,6 Yuancun Zhao,5,6 Xuancheng Mai,1,2 Junxue Ni,3 Jie Zhang5,6 1Department of Reproductive Medicine and NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in ...
Ma Y, Yang Y, Zhang T, Hu D, Zhao Y, Mai X, Ni J, Zhang J   +7 more
doaj  

Pathogenic Deep Intronic Variant in <i>CNGB3</i> Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia. [PDF]

Case Rep Genet
Gregory MR, Liaqat K, Treat K, Haider KM, Vetrini F, Conboy E.   +5 more
europepmc   +1 more source