Results 61 to 70 of about 51,568 (249)

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

Molecular Cytogenetics, 2015
Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features.
Haltrich, Irén, Piko, Henriett, Pamjav H, Somogyi, Anikó, Volgyi A, David D, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi V, Fekete, György   +10 more
openaire   +3 more sources

Design of a Novel Diamine Biosensor to Guide the Engineering of Escherichia coli for Cadaverine Overproduction

Advanced Science, EarlyView.
A high‐throughput screening platform was established by integrating an in vivo cadaverine biosensor with a fluorescence‐activated cell sorting (FACS) system. Biosensor‐driven specific exporter tuning, pathway optimization and genome‐wide target mining were conducted to maximize cadaverine production in Escherichia coli.
Jia Feng, Getao Liu, Ding Ma, Jiaxiang Yuan, Xinyi Zhang, Weihao Wang, Chen Ma, Yang Liao, Siyuan Gao, Lei Qin, Jiao Feng, Sheng Xu, Xin Wang, Kequan Chen   +13 more
wiley   +1 more source

A DNA G‐Quadruplex‐Targeting Ligand Suppresses c‐MYC Expression: Implications for Gemcitabine‑Resistant Pancreatic Cancer

Angewandte Chemie, EarlyView.
PQB‐4, a fluorescent small‐molecule ligand that targets c‐MYC DNA G‐quadruplexes (G4s), showed marked synergy with gemcitabine in resistant PANC‐1 cells (CI = 0.027). In vivo, the ligand reduced tumor weight by 44% in a PANC‐1 xenograft model. These results highlight the therapeutic potential of c‐MYC DNA G4‐targeting ligands for treating gemcitabine ...
Bo‐Xin Zheng, Ya‐Kun Wang, Ze‐Xin Chen, Yi‐Wen Meng, Meng‐Ting She, Jia‐Peng Dong, Yingying Zheng, Yao‐Xun Zeng, Wen‐De Zheng, Wei Long, Wing‐Leung Wong   +10 more
wiley   +2 more sources

Matrix Rigidity Mechanoprimes Microglia for Inflammation Through Cytoskeletal‐to‐Nuclear Signaling and 3D Spatio‐Epigenomic Remodeling

Advanced Science, EarlyView.
Pathological tissue rigidity mechanoprimes microglia by enhancing actin cytoskeleton–nucleus coupling and chromatin opening at rigidity‐responsive cis‐regulatory elements (mechanoCREs). Subsequent NF‐κB/p65 signaling converges on this permissive regulatory state to amplify inflammatory gene expression and microglial activation.
Yu Xuan Meng, Jaegeon Joo, Yu Meng Li, Cheng Ji Li, Ali Taghizadeh, Seung Jae Shin, Buuvee Bayarkhangai, Tae‐Woo Ha, Sak Lee, Jaewoo Chung, Bo‐Eun Yoon, Hye Sung Kim, Inkyung Jung, Jung‐Hwan Lee, Kam W. Leong, Hae‐Won Kim   +15 more
wiley   +1 more source

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

Cell Reports, 2012
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two
Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia A.L. Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen   +21 more
doaj   +1 more source

A Living Multi‐Omics PDX Biobank of High‐Risk Sarcomas Reveals ecDNA‐Driven Oncogene Amplification in Osteosarcoma and Enables Preclinical Precision Oncology

Advanced Science, EarlyView.
A living multi‐omics sarcoma PDX biobank is enriched for high‐risk disease and preserves key patient tumor features at histopathological and molecular levels. Integrated profiling reveals ecDNA‐driven oncogene amplification in osteosarcoma and preferential retention of ecDNA during PDX evolution.
Weisong Zhao, Zhiwei Cheng, Kai Tian, Mengxiong Sun, Zhuoying Wang, Ming Jiao, Jens Luebeck, Kaiyuan Zhu, Xiao Zhang, Dongqing Zuo, Hongsheng Wang, Chongren Wang, Jiakang Shen, Xiaojun Ma, Gangyang Wang, Zongyi Wang, Jing Han, Kaiyuan Liu, Haoran Mu, Weiqi Ma, Yongyong Ren, Shibing Guo, Huangxin Tu, Lingfeng Yu, Yining Tao, Yu Lv, Hui Lu, Owen S. Chapman, Rishaan Kenkre, Lukas Chavez, Zhengdong Cai, Yuqin Yang, Wei Sun, Yafei Jiang, Yingqi Hua   +34 more
wiley   +1 more source

Functional insights into a rare X–autosome rearrangement: Xq23–12p13 translocation in primary amenorrhea and recurrent depression

Romanian Journal of Laboratory Medicine
Chromosomal translocations, particularly X–autosome rearrangements, are rare and can produce complex clinical phenotypes even in carriers who appear phenotypically normal.
Yücel İlyas, Erdal Gülbahar Güzel, Binici Mahir, Oral Diclehan, Balkan Mahmut, Ademoğlu Elif, Tekeş Selahattin, İpekçi Mert   +7 more
doaj   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Human Genomics
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss.
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli   +19 more
doaj   +1 more source