Results 71 to 80 of about 28,807 (313)

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

Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization [PDF]

, 1990
A new strategy for analyzing chromosomal evolution in primates is presented using chromosomal in situ suppression (CISS) hybridization. Biotin-labeled DNA libraries from flow-sorted human chromosomes are hybridized to chromosome preparations of ...
Stanyon, Roscoe, Cremer, Thomas, Wienberg, Johannes, Jauch, Anna   +3 more
core   +1 more source

Цитогенетическое обследование лиц разного возраста, выполненное с использованием дифференциального G-окрашивания метафазных хромосом

Фактори експериментальної еволюції організмів, 2014
Aim. To study of spontaneous frequency and spectrum of aberrations chromosomes in peripheral blood lymphocytes conditionally healthy volunteers of different age. Methods.
О. А. Талан, Е. В. Шеметун, Д. А. Куринный, М. А. Пилинская   +3 more
doaj  

First Report on Nucleolar Organizer Regions (NORs) Polymorphism and Constitutive Heterochromatin of Moonlight Gourami, Trichopodus microlepis (Perciformes, Osphronemidae)

Caryologia, 2021
Nucleolar organizer regions (NORs) polymorphism, constitutive heterochromatin and chromosomal analysis of Moonlight gourami, Trichopodus microlepis in Thailand were firstly reported.
Weerayuth Supiwong
doaj   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Additional file 6 of Cytogenetic screening of a Canadian swine breeding nucleus using a newly developed karyotyping method named oligo-banding

, 2023
Additional file 6: Table S3. Correspondence between oligo-banding probes and G-bands and their positions on pig chromosomes. Oligo-banding probe positions are specified starting at the first nucleotide of the first oligonucleotide and ending at the last ...
William Poisson (13912891), Alexandra Carrier (13912888), Julien Prunier (3264519), Isabelle Gilbert (13912897), Alexandre Bastien (8043395), Claude Robert (16522691)   +5 more
core   +1 more source

Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs

Advanced Science, EarlyView.
Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou, Sisi Luo, Binliang Tang, Zhiqiang Liu, Yuchuan Zhou, Yicong Meng, Zhengmu Wu, Zheng Sun, Weihui Shi, Jianzhong Sheng, Chuanjin Yu, Zhenhua Li, Siyi Wei, Mo Zhang, Yujie Luo, Jing Yan, Xueyun Qin, Jiahang Mo, Chengliang Zhou, Jinsong Li, Hefeng Huang, Yifu Ding, Guolian Ding   +22 more
wiley   +1 more source

Cytomolecular identification of individual wheat-wheat chromosome arm associations in wheat-rye hybrids

, 2013
Chromosome pairing in the meiotic metaphase I of wheatrye hybrids has been characterized by sequential genomic and fluorescent in situ hybridization allowing not only the discrimination of wheat and rye chromosomes, but also the identification of the
Megyeri, Mária, Molnár, István, Molnár-Láng, Márta   +2 more
core   +1 more source

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

Karyotype and NOR-banding of mitotic chromosomes of some Vitis L. species

Revista Brasileira de Fruticultura, 2011
Chromosome studies were performed in V. champinii, V. cinerea, V. girdiana, V. labrusca, V. rotundifolia, V. rupestris and V. vinifera with the purpose of species characterization using chromosome morphometric data and NOR banding.
Neiva Izabel Pierozzi
doaj   +1 more source