Results 211 to 220 of about 66,664 (302)

Single‐Cell Profiling Identifies SLC2A5‐Mediated Fructose Metabolism as a Vulnerability in Primary CNS Lymphoma

Advanced Science, EarlyView.
Glucose deprivation in the primary CNS lymphoma (PCNSL) tumor microenvironment drives SLC2A5 (encoding GLUT5)‐dependent fructose metabolism in tumor cells, while hypoxia induces HIF‐mediated SLC2A5 expression in tumor‐supportive macrophages, revealing SLC2A5‐driven fructose utilization as a shared and targetable metabolic vulnerability across malignant
Qiaoli Wu, Qianru Zhang, Wenqiang Yan, Lu Sun, Yiran Cui, Bolin Liu, Guoqing Han, Feng Zhang, Ke Pu, Mingchao Zhang, Xiaobing Zhang, Qingguo Li, Gang An, Yuxuan Liu   +13 more
wiley   +1 more source

Differences in preimplantation blastocyst chromosomal aberrations between polycystic ovary syndrome women and controls: a multi-center retrospective cohort study. [PDF]

J Assist Reprod Genet
Luo L, Wang W, Xu Y, Yang Y, Zhang L, Gao J, Mai J, Wang Q, Gong F.   +8 more
europepmc   +1 more source

From Cytoskeletal Remodeling to Oocyte Quality: The Emerging Role of Mechanics

Advanced Science, EarlyView.
Mechanical properties of the oocyte are increasingly recognized as critical determinants of meiotic success and developmental potential. How actomyosin remodeling controls oocyte mechanics, how these properties are altered in pathological conditions, and how they could serve as markers in reproductive medicine are examined.
Anastasia Shihabi, Rose Bulteau, Lucie Barbier, Marie‐Emilie Terret   +3 more
wiley   +1 more source

Correction: High levels of chromosomal aberrations negatively associate with benefit to checkpoint inhibition in NSCLC. [PDF]

J Immunother Cancer, 2022
europepmc   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 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

Clinical Analysis of Y Chromosome Microdeletions and Chromosomal Aberrations in 1596 Male Infertility Patients of the Zhuang Ethnic Group in Guangxi. [PDF]

Reprod Sci
Shi M, Ma S, Huang L, Huang C, Wang J, Qin X, Luo Y, Xiong Y, He N, Zeng J.   +9 more
europepmc   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source