Results 61 to 70 of about 100,877 (263)

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Molecular Cytogenetics, 2009
Background Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features.
Thieme Heike, von Eggeling Ferdinand, Mrasek Kristin, Alehan Dursun, Utine Eda, Weise Anja, Aktas Dilek, Tuncbilek Ergul, Liehr Thomas   +8 more
doaj   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Chromosome duplication in Lolium multiflorum Lam. [PDF]

Crop Breeding and Applied Biotechnology, 2014
Artificial chromosome duplication of diploid genotypes of Lolium multiflorum (2n=2x=14) is worthy to breeding, and aims to increase the expression of traits with agronomic interest.
Roselaine Cristina Pereira, Marco Túlio Mendes Ferreira, Lisete Chamma Davide, Moacir Pasqual, Andréa Mittelmann, Vânia Helena Techio   +5 more
doaj  

Evolution of the DAZ gene and the AZFc region on primate Y chromosomes

BMC Evolutionary Biology, 2008
Background The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men ...
Yu Jane-Fang, Lin Yi-Wen, Yu Yueh-Hsiang, Schempp Werner, Yen Pauline H   +4 more
doaj   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Molecular Cytogenetics, 2012
Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes.
Di Bartolo Daniel L, El Naggar Mohamed, Owen Renius, Sahoo Trilochan, Gilbert Fred, Pulijaal Venkat R, Mathew Susan   +6 more
doaj   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source

Modulation of miR‐23b Wnt/β‐catenin Axis Strengthens Endothelial Barrier Properties

Advanced Science, EarlyView.
Early blood‐brain barrier (BBB) disruption contributes to stroke and CNS disease pathology. miR‐23b was identified as a regulator of BBB integrity in brain endothelial cells. Inhibition of miR‐23b enhanced barrier‐associated properties, promoted repair‐related signaling, and reduced BBB leakage in experimental stroke models, supporting further ...
Victor Anthony Martinez, Rose E. Presby, Sara Nakanishi, Pallavi Gaur, Ugur Akcan, Johannes Daugaard Krog, Iben Daugaard Krog, Lipi Das, David S. Johnson, Danny Jamoul, Douglas Jury, Brian Lawson, Jacob Körbelin, Lewis M. Brown, Vilas Menon, Dritan Agalliu, Irene Munk Pedersen   +16 more
wiley   +1 more source

TSPYL5 Promotes Triple‐Negative Breast Cancer Metastasis by Antagonizing USP10‐Mediated PTEN Stabilization to Unleash a ZEB1‐Dependent EMT Program

Advanced Science, EarlyView.
The hyperactivation of PI3K/AKT signaling in PTEN wild‐type triple‐negative breast cancer represents a clinical paradox. We delineate a novel post‐translational regulatory axis wherein the oncogene TSPYL5 competitively antagonizes the deubiquitinase USP10.
Jiaying Shi, Ming Yi, Shengyu Xie, Zhaokun Wang, Xinyue Zhang, Yangwei Zhang, Rui Tang, Yuan Yang, Yunqiang Liu   +8 more
wiley   +1 more source

In Vivo Imaging of the Segregation of the 2 Chromosomes and the Cell Division Proteins of Rhodobacter sphaeroides Reveals an Unexpected Role for MipZ

mBio, 2019
Coordinating chromosome duplication and segregation with cell division is clearly critical for bacterial species with one chromosome. The precise choreography required is even more complex in species with more than one chromosome.
Nelly Dubarry, Clare R. Willis, Graeme Ball, Christian Lesterlin, Judith P. Armitage   +4 more
doaj   +1 more source