Results 111 to 120 of about 297,547 (335)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Clubroot resistance gene Rcr6 in Brassica nigra resides in a genomic region homologous to chromosome A08 in B. rapa

BMC Plant Biology, 2019
Background Clubroot, caused by Plasmodiophora brassicae Woronin, is a very important disease of Brassica species. Management of clubroot relies heavily on genetic resistance.
Adrian Chang, Mebarek Lamara, Yangdou Wei, Hao Hu, Isobel A. P. Parkin, Bruce D. Gossen, Gary Peng, Fengqun Yu   +7 more
doaj   +1 more source

Patterns of Inter-Chromosomal Gene Conversion on the Male-Specific Region of the Human Y Chromosome [PDF]

, 2017
The male-specific region of the human Y chromosome (MSY) is characterized by the lack of meiotic recombination and it has long been considered an evolutionary independent region of the human genome.
Cruciani, Fulvio, D'Atanasio, Eugenia, Trombetta, Beniamino   +2 more
core   +1 more source

A Two‐Protein Chemoreceptor Complex Regulates Oxygen Thresholds in Bacterial Magneto‐Aerotaxis

Advanced Science, EarlyView.
Magnetotactic bacteria align with Earth's magnetic field, helping them migrate toward low‐oxygen environments. This study reveals how Magnetospirillum gryphiswaldense uses a specialized flavin adenine dinucleotide (FAD)‐dependent chemoreceptor, composed of two interacting proteins, for precise navigation in oxygen gradients.
Julian Herz, Carina Weigel, Leonie Scheder, Raz Zarivach, Itay Algov, Yonatan Chemla, Felix Popp, Cornelius Riese, Mohammad A. Charsooghi, Lital Alfonta, Michael M. Meijler, Dirk Schüler, Damien Faivre, Daniel Pfeiffer   +13 more
wiley   +1 more source

Adaptation of the Pivotal-Differential Genome Pattern for the Induction of Intergenomic Chromosome Recombination in Hybrids of Synthetic Amphidiploids within Triticeae Tribe

Frontiers in Plant Science, 2017
A pivotal-differential evolution pattern is when two allopolyploids share a common genome, which is called pivotal, and differ with respect to the other genome or genomes, called differential.
Michal T. Kwiatek, Joanna Majka, Maciej Majka, Jolanta Belter, Halina Wisniewska   +4 more
doaj   +1 more source

HERV‐K TM Subunit Elicits CD8+ T Cell Anergy and Tumor Immune Evasion via Targeting CD3 Coreceptor ε in AML and PDAC

Advanced Science, EarlyView.
Novel viral immune checkpoint K‐TM subunit is aberrantly expressed in CD8+ T cells and enriched in sera of cancer patients, inducing CD8+ T cell anergy and eliciting potent tumor immune escape in mouse model. Mechanistically, K‐TM directly targets and induces the phosphorylation of CD3ε receptor.
Mengyuan Li, Shuwen Zheng, Qinyuan Gong, Zhaoxing Wu, Wen Lei, Wanyue Cao, Ping Wang, Xuzhao Zhang, Wenbin Qian, Yun Liang, Ying Lu, Fenglin Li, Qi Zhang, Rongzhen Xu   +13 more
wiley   +1 more source

Topoisomerase II- and condensin-dependent breakage of MEC1ATR-sensitive fragile sites occurs independently of spindle tension, anaphase, or cytokinesis.

PLoS Genetics, 2012
Fragile sites are loci of recurrent chromosome breakage in the genome. They are found in organisms ranging from bacteria to humans and are implicated in genome instability, evolution, and cancer.
Nadia Hashash, Anthony L Johnson, Rita S Cha   +2 more
doaj   +1 more source

Genome-wide high-resolution mapping of UV-induced mitotic recombination events in Saccharomyces cerevisiae. [PDF]

, 2013
In the yeast Saccharomyces cerevisiae and most other eukaryotes, mitotic recombination is important for the repair of double-stranded DNA breaks (DSBs). Mitotic recombination between homologous chromosomes can result in loss of heterozygosity (LOH).
Petes, Thomas D, Yin, Yi
core   +1 more source

Tracing and Capturing the Epiblast Pluripotency of Sheep Preimplantation Embryos

Advanced Science, EarlyView.
This study performs a comprehensive single‐cell transcriptome analysis of sheep embryos from embryonic (E) day 1 to E14 to elucidate the mechanism of early lineage specification and the pluripotency changes (naïve, formative, and primed) of epiblast.
Jinying Zhang, Runbo Li, Ruijie Luo, Qiang Zhang, Zimo Zhao, Haishen Xu, Minglei Zhi, Wenjie Jiang, Meng Wang, Xinze Chen, Zhiqiang Feng, Yingjie Wang, Yuhan Yang, Pengcheng He, Hanyue Su, Tianzhi Chen, Shunxin Wang, Yixuan Yao, Jinghui Yang, Fan Zhao, Tingting Li, Haitao Wang, Xiaosheng Zhang, Jinlong Zhang, Qiuyue Liu, Shuai Gao, Yuchang Yao, Jianyong Han, Suying Cao   +28 more
wiley   +1 more source

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility

Nature Communications, 2016
The synaptonemal complex is a meiosis-specific proteinaceous structure that supports homologous chromosome pairs during meiosis. Here, the authors show that SIX6OS1 (of previously unknown function) is part of the synaptonemal complex central element and ...
Laura Gómez-H, Natalia Felipe-Medina, Manuel Sánchez-Martín, Owen R. Davies, Isabel Ramos, Ignacio García-Tuñón, Dirk G. de Rooij, Ihsan Dereli, Attila Tóth, José Luis Barbero, Ricardo Benavente, Elena Llano, Alberto M. Pendas   +12 more
doaj   +1 more source