Results 51 to 60 of about 6,021,091 (244)

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

Experimental and theoretical analysis of X-chromosome inactivation as a paradigm for epigenetic memory and molecular decision-making [PDF]

, 2021
X-Chromosom-Inaktivierung (XCI) ist der Mechanismus, den Säuger zur Dosiskompensierung zwischen weiblichen und männlichen Zellen verwenden. XCI wird ausgelöst durch die monoallelische Hochregulation der langen nicht-kodierenden RNA Xist von einem der ...
Mutzel, Verena, Mutzel, V. ; https://orcid.org/   +1 more
core   +1 more source

Genomic environment predicts expression patterns on the human inactive X chromosome. [PDF]

PLoS Genetics, 2006
What genomic landmarks render most genes silent while leaving others expressed on the inactive X chromosome in mammalian females? To date, signals determining expression status of genes on the inactive X remain enigmatic despite the availability of ...
Laura Carrel, Chungoo Park, Svitlana Tyekucheva, John Dunn, Francesca Chiaromonte, Kateryna D Makova   +5 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

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Yo Niida, Akihiro Yachie
core  

Dynamic dosage changes in X-linked transposable elements during mammalian dosage compensation

Nature Communications
In mammals, X-linked dosage compensation involves X-chromosome inactivation to balance X chromosome dosage between males and females, and hyperactivation of the remaining X-chromosome (Xa-hyperactivation) to achieve X-autosome balance in both sexes ...
Chunyao Wei, Barry Kesner, Uri Weissbein, Peera Wasserzug-Pash, Priyojit Das, Jeannie T. Lee   +5 more
doaj   +1 more source

A Pentaradial and Bilateral Combined Photoreception System in the Sea Cucumber is Mediated by a Blue Light‐Sensitive R‐Opsin

Advanced Science, EarlyView.
The sea cucumber Holothuria leucospilota detects blue and adjacent wavelengths of light via an r‐opsin with a maximum absorption at 459 nm. In the oral tentacles, papillae, and tube feet, distinct light‐sensing structures with specialized morphologies are formed, constituting a unique pentaradial and bilateral combined photoreception system.
Jiasheng Huang, Chunhua Ren, Zhou Qin, Yimeng Cui, Bingbing Zhang, Peng Luo, Xuan Wang, Yaoqi Xie, Xin Zhang, Aifen Yan, Yang Zhang, Dingding Fan, Yang Liu, Wenjie Pan, Xiao Jiang, Lihong Yuan, Haipeng Qin, David M. Irwin, Chaoqun Hu, Yang Liu, Ting Chen   +20 more
wiley   +1 more source

A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. [PDF]

, 2012
Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation.
Shantha K. Mahadevaiah (94714), Nabeel A. Affara (135531), Vaiman, Daniel, Julie Cocquet, Nabeel A Affara, Burgoyne, Paul S., Daniel Vaiman, Cocquet, Julie, Affara, Nabeel A., Julie Cocquet (135523), Mahadevaiah, Shantha K., Ellis, Peter J.I., Peter J I Ellis, Shantha K Mahadevaiah, Daniel Vaiman (83223), Paul S. Burgoyne (94717), Peter J. I. Ellis (135526), Paul S Burgoyne   +17 more
core   +1 more source

Independent evolution of transcriptional inactivation on sex chromosomes in birds and mammals. [PDF]

PLoS Genetics, 2013
X chromosome inactivation in eutherian mammals has been thought to be tightly controlled, as expected from a mechanism that compensates for the different dosage of X-borne genes in XX females and XY males.
Alexandra M Livernois, Shafagh A Waters, Janine E Deakin, Jennifer A Marshall Graves, Paul D Waters   +4 more
doaj   +1 more source

Mitochondria and Neuromast Tagging With Fluorescent Gallium‐Triapine Analogues: In Cellulo MP FLIM and Zebrafish Live Imaging

Advanced Science, EarlyView.
Fluorescent BODIPY‐conjugated thiosemicarbazone ligands and their Ga(III), In(III), and Fe(III) complexes, inspired by Triapine, are developed as theranostic agents. Multiphoton FLIM and confocal microscopy in cancer cells and zebrafish reveal real‐time uptake, mitochondrial localisation, and whilst spectroscopic assays indicated preserved complex ...
Megan J. Green, Michael W. Jones, Merissa Saleem, Haobo Ge, Melita Tvardauskaite, Julia Dudzic, Fernando Cortezon‐Tamarit, Rory L. Arrowsmith, Charareh Pourzand, Gabriele Kociock‐Kohn, Nicholas H. Rees, Jonathan R. Dilworth, Stephen Faulkner, Stanley W. Botchway, David Gurevich, Sofia I. Pascu   +15 more
wiley   +1 more source