Results 101 to 110 of about 259,540 (309)

Ki-67 is a PP1-interacting protein that organises the mitotic chromosome periphery [PDF]

, 2014
Copyright @ 2014 Booth et al. This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited.When the nucleolus ...
Elizabeth Petfalski, Vagnarelli, Paola, Ponting, Christopher, David Tollervey, Earnshaw, William C, Imamoto, N, Petfalski, Elizabeth, Sanchez-Pulido, Luis, Giulia Vargiu, Takagi, M, Booth, DG, Luis Sanchez-Pulido, Tollervey, David, Ponting, Chris P, Petfalski, E, Ponting, CP, Vargiu, Giulia, Tollervey, D, Naoko Imamoto, Ponting, Chris P.; id_orcid, Earnshaw, William C., Daniel G Booth, Vagnarelli, P, Kumiko Samejima, Imamoto, Naoko, Booth, Daniel G, William C Earnshaw, Masatoshi Takagi, Samejima, Kumiko, Sanchez-Pulido, L, Vargiu, G, Booth, Daniel G., Chris P Ponting, Paola Vagnarelli, Takagi, Masatoshi, Samejima, K, Earnshaw, WC   +36 more
core   +1 more source

aksanroman/The-human-Y-and-inactive-X-chromosomes-similarly-modulate-autosomal-gene-expression: Code release for Cell Genomics

, 2023
<p>This is the code that accompanies the final version of San Roman et al "The human Y and inactive X chromosomes similarly modulate autosomal gene expression" in press at Cell Genomics, October 2023</p ...
aksanroman
core   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Distribution of preeclampsia-related genes on human chromosomes

Taiwanese Journal of Obstetrics & Gynecology, 2022
Mostafa Saadat
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Sex Chromosomes

, 1967
Sex Chromosomes focuses on the study of sex chromosomes, including human chromosomal abnormalities, behavior and characteristics of chromosomes, and cell division.
Mittwoch, Ursula
core  

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
Ellis, Michael, A.R. Thornhill, M. Ellis, D. Ioannou, Meershoek, Eric J., D.K. Griffin, Thornhill, Alan R., E.J. Meershoek, Ioannou, Dimitris, Griffin, Darren K.   +9 more
core   +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

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

The Application of Clinical Genetics, 2021
Dalia Mostafa Nayel,1 Hanan Salah El Din Mahrous,1 Emad El Din Khalifa,2 Soha Kholeif,1 Ghada Mohamed Elhady1 1Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; 2Department of Obstetrics and Gynecology ...
Mostafa Nayel D, Salah El Din Mahrous H, El Din Khalifa E, Kholeif S, Mohamed Elhady G   +4 more
doaj  

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