Cargando…

Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation

Damage to the genome can accelerate aging. The percentage of aneuploid cells, that is, cells with an abnormal number of chromosomes, increases during aging; however, it is not clear whether increased aneuploidy accelerates aging. Here, we report an individual showing premature aging phenotypes of va...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fujita, Harumi, Sasaki, Takashi, Miyamoto, Tatsuo, Akutsu, Silvia Natsuko, Sato, Showbu, Mori, Takehiko, Nakabayashi, Kazuhiko, Hata, Kenichiro, Suzuki, Hisato, Kosaki, Kenjiro, Matsuura, Shinya, Matsubara, Yoichi, Amagai, Masayuki, Kubo, Akiharu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7681047/ https://www.ncbi.nlm.nih.gov/pubmed/33094908 http://dx.doi.org/10.1111/acel.13251

Ejemplares similares

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders
por: Akutsu, Silvia Natsuko, et al.
Publicado: (2020)

Epigenetic and transcriptional features of the novel human imprinted lncRNA GPR1AS suggest it is a functional ortholog to mouse Zdbf2linc
por: Kobayashi, Hisato, et al.
Publicado: (2013)

Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
por: Asahina, Yasuhiko, et al.
Publicado: (2023)

Superimposition of checkerboard distribution of ephelides and neurofibromas in a patient with segmental neurofibromatosis
por: Iriki, Hisato, et al.
Publicado: (2022)

The desmosome is a mesoscale lipid raft–like membrane domain
por: Lewis, Joshua D., et al.
Publicado: (2019)

Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology
por: Miyamoto, Tatsuo, et al.
Publicado: (2018)

iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
por: Akutsu, Silvia Natsuko, et al.
Publicado: (2022)

SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing
por: Matsui, Takeshi, et al.
Publicado: (2011)

DNA Methyltransferase Inhibitor Zebularine Inhibits Human Hepatic Carcinoma Cells Proliferation and Induces Apoptosis
por: Nakamura, Kazuaki, et al.
Publicado: (2013)

The role of maternal-specific H3K9me3 modification in establishing imprinted X-chromosome inactivation and embryogenesis in mice
por: Fukuda, Atsushi, et al.
Publicado: (2014)

Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells
por: Royba, Ekaterina, et al.
Publicado: (2017)

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions
por: Matsubara, Keiko, et al.
Publicado: (2015)

Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome
por: Miyamoto, Tatsuo, et al.
Publicado: (2020)

Lists of HumanMethylation450 BeadChip probes with nucleotide-variant information obtained from the Phase 3 data of the 1000 Genomes Project
por: Okamura, Kohji, et al.
Publicado: (2015)

Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening
por: Tomikawa, Junko, et al.
Publicado: (2020)

External antigen uptake by Langerhans cells with reorganization of epidermal tight junction barriers
por: Kubo, Akiharu, et al.
Publicado: (2009)

RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies
por: Hiraide, Takahiro, et al.
Publicado: (2022)

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders
por: Yamada, Mamiko, et al.
Publicado: (2019)

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
por: Kagami, Masayo, et al.
Publicado: (2017)

Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum
por: Okamura, Kohji, et al.
Publicado: (2015)

Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles
por: Usui, Hirokazu, et al.
Publicado: (2019)

The stratum corneum comprises three layers with distinct metal-ion barrier properties
por: Kubo, Akiharu, et al.
Publicado: (2013)

Ciliopathy in PCS (MVA) syndrome
por: Miyamoto, Tatsuo, et al.
Publicado: (2015)

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients
por: Suzuki, Hisato, et al.
Publicado: (2020)

De novo NSF mutations cause early infantile epileptic encephalopathy
por: Suzuki, Hisato, et al.
Publicado: (2019)

Infiltration of mast cells in pachydermia of pachydermoperiostosis
por: Tanese, Keiji, et al.
Publicado: (2017)

Gestational arsenic exposure induces site-specific DNA hypomethylation in active retrotransposon subfamilies in offspring sperm in mice
por: Nohara, Keiko, et al.
Publicado: (2020)

A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion
por: Hasegawa, Keita, et al.
Publicado: (2023)

Genitopatellar syndrome: the first reported case in Japan
por: Okano, Satomi, et al.
Publicado: (2018)

Contribution of Intragenic DNA Methylation in Mouse Gametic DNA Methylomes to Establish Oocyte-Specific Heritable Marks
por: Kobayashi, Hisato, et al.
Publicado: (2012)

FRI307 Gigantism Due To Transcriptional Activation Of GHRH: The First Case Of Hormone-encoding Gene Overexpression Underlying A Congenital Disorder
por: Hattori, Atsushi, et al.
Publicado: (2023)

TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension
por: Hiraide, Takahiro, et al.
Publicado: (2021)

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions
por: Matsubara, Keiko, et al.
Publicado: (2019)

NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations
por: Tomioka, Keita, et al.
Publicado: (2021)

DNA Methylation Profile Distinguishes Clear Cell Sarcoma of the Kidney from Other Pediatric Renal Tumors
por: Ueno, Hitomi, et al.
Publicado: (2013)

Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty
por: Fukami, Maki, et al.
Publicado: (2017)

An Insulator Element Located at the Cyclin B1 Interacting Protein 1 Gene Locus Is Highly Conserved among Mammalian Species
por: Yoshida, Wataru, et al.
Publicado: (2015)

DNA methylation changes involved in the tumor increase in F2 males born to gestationally arsenite‐exposed F1 male mice
por: Okamura, Kazuyuki, et al.
Publicado: (2019)

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements
por: Kawashima, Sayaka, et al.
Publicado: (2021)

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_lpq6ecevtkeds8fblesr6jr3tl