Results 91 to 100 of about 1,534,713 (253)

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
Dunham, Ian, Cremer, Thomas, Terry Featherstone, Christoph Lengauer, Featherstone, Terry, Lan Dunham, Lengauer, Christoph, Thomas Cremer   +7 more
core   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Investigating the role of nuclear myosin I in the low serum induced repositioning of chromosome 10 in interphase nuclei [PDF]

, 2010
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.The nucleus of mammalian cells has been proven to be highly organised.
Amira, Manelle
core   +4 more sources

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Induction of chromosome shattering by ultraviolet light and caffeine [PDF]

, 1981
Synchronized and asynchronously growing cells of a V79 sub-line of the Chinese hamster were either partial-cell irradiation (λ, 254 nm) or laser-UV-microirradiated (λ, 257 nm).
Cremer, Thomas, Cremer, Christoph, Zimmer, J., Zorn, Christian   +3 more
core   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

International Journal of Medical Students, 2022
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the ...
Manuel Alejandro Vásquez Salguero, Wilmar Saldarriaga Gil   +1 more
doaj