Results 41 to 50 of about 92,831 (207)

Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21 [PDF]

, 1992
A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2.
Olson, Maynard V., Riethman, Harold C., Green, Eric D., Becher, Reinhard, Taniwaki, Masafumi, Michael R. Speicher, Speicher, Michael R., Cremer, Thomas, Christoph Lengauer, Eric D. Green, Konecki, David, Maynard V. Olson, David Konecki, Reinhard Becher, Harold C. Riethman, Lengauer, Christoph, Masafumi Taniwaki, Thomas Cremer   +17 more
core  

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 more
wiley   +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

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

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

Modeling meiotic chromosomes indicates a size dependent contribution of telomere clustering and chromosome rigidity to homologue juxtaposition [PDF]

, 2012
Meiosis is the cell division that halves the genetic component of diploid cells to form gametes or spores. To achieve this, meiotic cells undergo a radical spatial reorganisation of chromosomes.
Penfold, Christopher A., Paul E Brown, Paul E. Brown (168021), Alastair S H Goldman, Christopher A. Penfold (168015), Neil D. Lawrence (168025), Penfold, C.A., Christopher A Penfold, Lawrence, Neil (Neil D.), Lawrence, N.D., Lawrence Neil D., Goldman Alastair S. H., Goldman, Alastair S. H., Alastair S. H. Goldman (168028), Brown Paul E., Neil D Lawrence, Penfold Christopher A., Brown, Paul E., Brown, P.E., Goldman, A.S.H.   +19 more
core   +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

The inexorable spread of a newly arisen neo-Y chromosome

, 2008
This work was financially supported by a Natural Environment Research Council grant to RAN. (NER-B-S-2003-00859) and a studentship from Queen Mary University of London to PV.A newly arisen Y-chromosome can become established in one part of a species ...
Keller, Irene, Irene Keller, Keller Irene, Veltsos, Paris, Nichols Richard A., Veltsos, P, Nichols, Richard A., Veltsos Paris, Richard A. Nichols, Nichols, R A, Richard A Nichols, Keller, I, Nichols, RA, Paris Veltsos   +13 more
core   +1 more source

Germinal and somatic trisomy 21 mosaicism : how common is it, what are the implications for individual carriers and how does it come about? [PDF]

, 2010
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and
Maj Hulten, Jonasson, Jon,, Jon Jonasson, Ann Nordgren, Nordgren, Ann, Iwarsson, Erik,, Nordgren, Ann,, Iwarsson, Erik, Nordgren, A,, Jonasson, Jon, Erik Iwarsson, Hultén, Maj A., Jonasson, J, Hulten, MA, Iwarsson, E,, Hultén, Maj A,   +15 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