Results 81 to 90 of about 287,317 (259)

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Case Reports in Genetics, 2013
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a ...
Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati   +12 more
doaj   +1 more source

Chromosomal deletion syndromes

Journal of applied health sciences
Chromosomes are structures composed of a DNA molecule and histone proteins that carry genetic information. They are located in the cell nucleus and become visible under light microscope during cell division. A karyogram is used to depict the number and structure of chromosomes, whereby a normal human karyogram has 46 chromosomes arranged in 23 ...
Anđela Strujić, Ivna Kocijan
openaire   +1 more source

PRC2.1 Coordinates Peri‐Nucleolar H3K27me3‐Enriched Heterochromatin Organization and NPM1 Pentamerization to Maintain Nucleolar Integrity

Advanced Science, EarlyView.
PRC2.1(PCL2)‐coordinated H3K27me3‐enriched PNH establishes a spatial scaffold crucial for nucleolar integrity. As a crucial coordinator, PCL2 links PRC2.1 to chromatin organization and NPM1 assembly. This network‐based model reveals how chromatin modifications and nucleolar components cooperatively maintain nucleolar architecture, revealing novel ...
Lina Zhu, Wenqin Wang, Shuyun Chen, Gangyi Zhu, Zhen Wu, Yue Gu, Jingwen Xiong, Xu Zhang, Heng Liu, Kyoichi Isono, Youming Zhang, Jingjing Cao, Xiangzhi Li   +12 more
wiley   +1 more source

TSPYL5 Promotes Triple‐Negative Breast Cancer Metastasis by Antagonizing USP10‐Mediated PTEN Stabilization to Unleash a ZEB1‐Dependent EMT Program

Advanced Science, EarlyView.
The hyperactivation of PI3K/AKT signaling in PTEN wild‐type triple‐negative breast cancer represents a clinical paradox. We delineate a novel post‐translational regulatory axis wherein the oncogene TSPYL5 competitively antagonizes the deubiquitinase USP10.
Jiaying Shi, Ming Yi, Shengyu Xie, Zhaokun Wang, Xinyue Zhang, Yangwei Zhang, Rui Tang, Yuan Yang, Yunqiang Liu   +8 more
wiley   +1 more source

Auto‐Downregulation of the Florigen FT Production Prevents Precocious Flowering in Plants

Advanced Science, EarlyView.
This study shows that the leaf vein‐expressed FD complexes with the florigen FT to bind DNA motifs in FT promoter, which antagonizes CONSTANS‐mediated FT activation to feedback down‐regulate FT expression. This prevents an excessive induction of FT expression by inductive photoperiods, thereby precluding precocious transition to flowering in ...
Shu Tian, Xiao Luo, Bowen Cui, Yuehui He
wiley   +1 more source

Prenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review

Radiology Case Reports
Terminal 7q deletion is a rare chromosomal anomaly resulting from partial deletion of the long arm of chromosome 7. 7q terminal deletion syndrome results in variable clinical phenotypes, such as microcephaly, holoprosencephaly, craniofacial abnormalities,
Kavita Aneja, MD, Sweta Krishnan, MD
doaj   +1 more source

Fine‐Tuned Regulation of mRNA Translation and Transport by STAU2 Condensate Facilitates Neuronal Development and Plasticity

Advanced Science, EarlyView.
STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang, Yuanyuan Chu, Ruiqian Zhao, Siyu Li, Yu Feng, Hongdan Zheng, Yunli Xie, Tong Wang, Wenyu Wen   +8 more
wiley   +1 more source

Xenogeneic Mitochondrial Transplantation Improves Selected Age‐Associated Phenotypes in Mice

Advanced Science, EarlyView.
Yak‐derived xenogeneic mitochondrial transplantation improves selected age‐associated phenotypes in mice, enhances mitochondrial functional readouts, and engages host mitochondrial quality‐control pathways. Broad tissue biodistribution, increased ATP production and mtDNA copy number, reduced ROS levels and dysfunctional mitochondria, improved motility ...
Wenpeng Li, Xijia Wang, Yaning Hu, Zhen Yang, Tian Niu, Xingbo Zhao   +5 more
wiley   +1 more source

A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
Chiara Veredice, Chiara Arpaia, Ilaria Contaldo, Anna Capasso, Donato Rigante   +4 more
wiley   +1 more source

A Non‐Canonical Role of SMAD4 in Regulating 3D Genome Architecture to Inhibit Lung Squamous Cell Carcinoma Development

Advanced Science, EarlyView.
SMAD4 is identified as a guardian of 3D genome architecture in lung squamous cell carcinoma. Loss of SMAD4 unleashes EP300 at chromatin loop anchors, strengthening enhancer–promoter looping and H3K27ac at the SOX2 locus to drive aberrant SOX2 activation and tumor cell proliferation.
Qian Tang, Chen Lian, Xinyan Han, Xuhan Zhang, Zihan Wang, Boyu Wang, Taoyu Zhu, Xinrui Lin, Xiaolei Wang, Yaping Xu, Manyu Xiao, Zijin Wang, Junming Li, Silin Chen, Yunze Wang, Yufei Liu, Songsong Li, Zuolin Shen, Xi Lu, Xueqi Han, Yilu Zhou, Mingyang Xiao, Jiayi Ran, Xiaoran Cao, Xinyi Xu, Hugo Sámano‐Sánchez, Alfredo Rodríguez, Lian Wang, Shuifang Chen, Zhanyu Xu, Shirong Zhang, Nuo Yang, Yong Tang, Jian Liu   +33 more
wiley   +1 more source