Results 71 to 80 of about 86,282 (258)

Sex Chromosomes Do It Differently. [PDF]

PLoS Biology, 2016
Lauren A Richardson
doaj   +1 more source

ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis

Advanced Science, EarlyView.
A central molecular adaptor, ZSL, is identified that links transverse filaments ZYP1 to central element SCEP1/2 to drive synaptonemal complex assembly in Brassica napus. Loss of ZSL abolishes synaptonemal complex formation, disrupts meiotic chromosome segregation, and markedly increases crossovers, providing mechanistic insight into meiotic fidelity ...
Miaowei Geng, Shaochen Jia, Fei Cao, Cuiping Liu, Heshuang Zhang, Gang Xu, Jixin Zhuang, Yashi Zhang, Can Liu, Yuhang Zhao, Zilin Guo, Xinjie Yuan, Jiaqing Yang, Lei Chu, Bowei Cai, Hu Zhao, Chao Yang   +16 more
wiley   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

Advanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo, Jinxiu Li, Adeniyi C. Adeola, Xueyan Jiang, Juntao Ma, Jian Xiao, Dexiang Hu, Kaixing Qu, Haihong Wu, Junren Chen, Zhanxing He, Tingting Yin, Ali Esmailizadeh, Jing Luo, Olivier Hanotte, Ya‐Ping Zhang, Yan Li   +16 more
wiley   +1 more source

Endometrial Epithelial Lactate Deficiency Drives CD8+ T‐Cells Dysregulation in Unexplained Recurrent Implantation Failure

Advanced Science, EarlyView.
Unexplained recurrent implantation failure (RIF) represents a significant clinical challenge. Our results demonstrate that reduced lactate production in the RIF endometrium impairs the suppression of cytotoxic CD8+ T‑cells, allowing their proliferation and thereby disrupting the local immune balance essential for successful embryo implantation.
Yuanlin He, Kang Ke, Qingxia Meng, Yichun Guan, Jichun Tan, Hong Lv, Boxian Huang, Chan Tian, Qinyan Zou, Mingxing An, Yao Gao, Jingjing Chen, Xiaoyu Wei, Xi Wang, Hongxia Ma, Yuan Lin, Feiyang Diao, Yayun Gu, Zhibin Hu   +18 more
wiley   +1 more source

Interspecific chromosomal divergences in the genus Characidium (Teleostei: Characiformes: Crenuchidae)

Neotropical Ichthyology
Karyotypes of seven fish species of the genus Characidium, three of them studied for the first time, were characterized using conventional cytogenetic techniques (Giemsa staining, Ag-NOR, and C-banding).
José Carlos Pansonato Alves, Luiz Ricardo de Souza Paiva, Claudio Oliveira, Fausto Foresti   +3 more
doaj   +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

Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment‐Resistant Subclones at the Time of Diagnosis

American Journal of Hematology, EarlyView.
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov, Magdalena Klanova, Michal Kolar, Robert Ivanek, Florian Geier, Julien Roux, Tomas Zikmund, Lucie Winkowska, Eva Kriegova, Jirina Manakova, Liliana Tuskova, Silvia Spanikova, Alexandra Scasna, Marek Trneny, Pavel Klener   +14 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source