Results 111 to 120 of about 174,287 (174)

A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†. [PDF]

Biol Reprod
Duke M, Blengini CS, Maddocks S, Aboelenain M, Prorock-Rogers C, Schindler K.   +5 more
europepmc   +1 more source

Pericentrosomal Redistribution of the Endoplasmic Reticulum Ensures Organelle Symmetric Inheritance and Mitotic Progression

Advanced Science, EarlyView.
Upon mitotic entry, RTN4 relocalizes to the pericentrosomal region, forming a more tubular ER network around centrosomes. CDK1‐mediated phosphorylation of RTN4 increases its interaction with Rab11 GTPase, facilitating dynein‐dependent transport of RTN4 to the pericentrosomal region.
Xiangyu Xu, Yalin Liu, Rongyi Wang, Wenwen Xu, Hao Shi, Ning Huang, Junlin Teng, Jin Meng, Pengli Zheng, Jianguo Chen   +9 more
wiley   +1 more source

Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]

Front Genet
Chen JY, Cai MJ, Chen XL, Ge YS.
europepmc   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Case Report: Cytokeratin-positive interstitial reticulum cell tumor with HLA loss of heterozygosity. [PDF]

Front Immunol
Liu W, Zhang Y, Wei Y, Hu Y, Zhang X, Xue J, Li P.   +6 more
europepmc   +1 more source

Effects of chromatin-lamina attachment on extra-long-range chromatin interactions. [PDF]

Biophys J
Delafrouz P, Farooq H, Du L, Ma A, Liang J.   +4 more
europepmc   +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.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
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

SCW: building the whole-genome 3D structures based on extremely sparse single-cell Hi-C data. [PDF]

BMC Bioinformatics
Zhu H, Liu T, Shrestha B, Wang Z.
europepmc   +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

Perks of being a wallflower: a high-quality wallflower reference genome reveals its chromosome evolution and flower color variation. [PDF]

Plant Physiol
Thomas WJW.
europepmc   +1 more source