Results 181 to 190 of about 236,633 (310)

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

Stem Cell Differentiation Disperses Transcriptional Clusters via a Conserved Surface‐Condensate Trajectory

Advanced Science, EarlyView.
Stem cell differentiation follows a conserved surface condensate trajectory: H3K27ac super enhancers nucleate large RNA polymerase II clusters that grow and unfold before transcriptional activity disperses them. This work reveals how biophysical forces at enhancer surfaces dynamically build and dismantle stem cell transcription hubs, reshaping cell ...
Tim Klingberg, Irina Wachter, Agnieszka Pancholi, Matthias Akyel, Yomna Gohar, Priya Kumar, Ana Miguel Fernandes, Yuzhi Bao, Alica Schmidt‐Heydt, Marcel Piepers, Alicia Günthel, Marcel Sobucki, Elisa Kämmer, Süheyla Eroğlu‐Kayıkçı, Stephan Allgeier, Sylvia Erhardt, Vasily Zaburdaev, Carmelo Ferrai, Lennart Hilbert   +18 more
wiley   +1 more source

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

, 2002
In the year 2000 we celebrated the sequencing of the entire long arm of human chromosome 21. This achievement now provides unprecedented opportunities to understand the molecular pathophysiology of trisomy 21, elucidate the mechanisms of all monogenic ...
Reymond, Alexandre, Deutsch, Samuel, Antonarakis, Stylianos, Lyle, Robert   +3 more
core  

The Spatiotemporal Genetic Architecture of Seed Vigor in Upland Cotton

Advanced Science, EarlyView.
Leveraging the semi‐automated SeedRanger platform, we profiled the germination kinetics of 356 cotton accessions at a 30‐min interval. This high‐throughput phenomic approach delineated a temporal genetic network comprising 541 stage‐specific loci. Crucially, functional validation identified FLA2 as a pivotal, auxin‐modulated regulator that orchestrates
Luyao Wang, Jie Dai, Ting Zhao, Shengjun Zhao, Hongyu Wu, Jiaying Pan, Yupeng Hao, Ke Nie, Li Yu, Yumeng Zhu, Xiangyi Zhao, Kai Huang, Mengke Zhang, Yongyan Zhao, Yaping Jiang, Siyuan Wang, Yiling Pan, Yubing Chen, Yilai Lin, Wanghong Shi, Yayuan Deng, Jin Han, Jie Li, Xuan Long, Junbin Wang, Zhiyuan Zhang, Zegang Han, Zhanfeng Si, Lei Ju, Jun Li, Tianzhen Zhang, Ji Zhou, Xueying Guan   +32 more
wiley   +1 more source

Mechanical Activation of Piezo1 Drives Osteoarthritis Through Kdm5c‐Mediated Epigenetic Silencing

Advanced Science, EarlyView.
Excessive mechanical stress activates Piezo1, triggering Ca2+‐dependent cytoskeletal forces that deform the nucleus and reduce H3K4me3. Kdm5c demethylates H3K4me3 at Col2a1 and Runx3 promoters. Kdm5c knockout rescues degradation. Repurposed telmisartan directly inhibits Kdm5c, blocking this axis and showing disease‐modifying efficacy in mouse OA models
Tianyou Kan, Xuran Li, Han Wang, Lin Sun, Yao Wang, Jiangdong Wu, Junqi Cui, Yiqi Yang, Kai Yuan, Linyang Chu, Liao Wang, Hanjun Li, Mengning Yan, Zhifeng Yu   +13 more
wiley   +1 more source

Differential Prognostic Impact of Prior Cholecystectomy Between Proximal and Distal Colorectal Cancer: A 12‐Year Retrospective Cohort Study of 3487 Consecutive Patients

Annals of Gastroenterological Surgery, EarlyView.
In this retrospective cohort of 3487 patients with CRC, history of CCY was associated with significantly worse prognosis in patients with proximal CRC but not in those with distal CRC. This differential prognostic impact showed a statistically significant interaction between tumor location and history of CCY and remained robust after PSM.
Masashi Tsunematsu, Koichiro Haruki, Kazuhiro Yanamoto, Takuo Takehana, Shunta Ishizaki, Mitsuru Yanagaki, Yoshihiro Shirai, Kenei Furukawa, Shinji Onda, Toru Ikegami   +9 more
wiley   +1 more source

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

American Journal of Hematology, EarlyView.
Key findings of therapeutic outcomes from a multi‐center cohort of VEXAS patients. ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking.
Saubia Fathima, Margaret Mei‐Kay Wong, Jesus Gonzalez‐Lugo, Susan M. Geyer, Ali Alsugair, Maria Sirenko, Kimberly J. Langer, Terra L. Lasho, Christy Finke, Jun Choi, Maher Abdul‐Hay, Gary Ho, Mark R. Litzow, Aasiya Matin, Urshila Durani, Mehrdad Hefazi, William J. Hogan, Mithun V. Shah, Aref Al‐Kali, Kebede H. Begna, Naseema Gangat, Antoine N. Saliba, Ronald S. Go, Tariq Kewan, Gabriel Bartoo, Jade Kutzke, Kristen McCullough, Kenneth J. Warrington, Megan Sullivan, Kaaren K. Reichard, Horatiu Olteanu, Hemant Murthy, Talha Badar, Yael Kusne, Jeanne Palmer, Saurabh Chhabra, Nathan Punwani, Mary Riwes, Joseph P. McGuirk, Elizabeth F. Krakow, Amelia Langston, Taxiarchis Kourelis, David Dingli, James Foran, Matthew J. Koster, Mrinal M. Patnaik, David B. Beck, Hassan B. Alkhateeb, Abhishek A. Mangaonkar   +48 more
wiley   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source