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Katelynn A Toomer et al.
Developmental dynamics : an official publication of the American Association of Anatomists, 246(8), 625-634 (2017-05-31)
Bicuspid aortic valve (BAV) disease is the most common congenital heart defect, affecting 0.5-1.2% of the population and causing significant morbidity and mortality. Only a few genes have been identified in pedigrees, and no single gene model explains BAV inheritance
Sarah P Short et al.
The Journal of clinical investigation, 127(12), 4462-4476 (2017-11-14)
p120-Catenin (p120) functions as a tumor suppressor in intestinal cancer, but the mechanism is unclear. Here, using conditional p120 knockout in Apc-sensitized mouse models of intestinal cancer, we have identified p120 as an "obligatory" haploinsufficient tumor suppressor. Whereas monoallelic loss
Anna M Salazar et al.
iScience, 9, 229-243 (2018-11-13)
Intestinal barrier dysfunction is an evolutionarily conserved hallmark of aging, which has been linked to microbial dysbiosis, altered expression of occluding junction proteins, and impending mortality. However, the interplay between intestinal junction proteins, age-onset dysbiosis, and lifespan determination remains unclear.
Salil K Sukumaran et al.
Molecular genetics and genomics : MGG, 292(2), 365-383 (2016-12-23)
Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in brain size but with normal architecture. It is often linked to mutations in genes coding for centrosomal proteins; however, their role in brain size regulation is not completely
Ashlee M Strubberg et al.
Cellular and molecular gastroenterology and hepatology, 5(3), 253-271 (2018-04-21)
Cystic fibrosis (CF) patients and CF mouse models have increased risk for gastrointestinal tumors. CF mice show augmented intestinal proliferation of unknown etiology and an altered intestinal environment. We examined the role of the cystic fibrosis transmembrane conductance regulator (Cftr)
Serum response factor is required for cell contact maintenance but dispensable for proliferation in visceral yolk sac endothelium.
Holtz, ML; Misra, RP
BMC Developmental Biology null
Tone Hoel Lende et al.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 29(7), 852-858 (2010-12-30)
In breast cancer, different tools are used for prognostication and adjuvant systemic therapy selection. We compared the accuracy of the online program Adjuvant!, the Norwegian Breast Cancer Group (NBCG) guidelines, and the proliferation factor mitotic activity index (MAI) in patients
Adriana Olar et al.
Brain pathology (Zurich, Switzerland), 25(3), 266-275 (2014-07-22)
While World Health Organization (WHO) grading of meningioma stratifies patients according to recurrence risk overall, there is substantial within-grade heterogeneity with respect to recurrence-free survival (RFS). Most meningiomas are graded according to mitotic counts per unit area on hematoxylin and
Maria Giulia Manzione et al.
Molecular biology of the cell, 31(6), 419-438 (2020-01-23)
Chromosome segregation during mitosis is antagonistically regulated by the Aurora-B kinase and RepoMan (recruits PP1 onto mitotic chromatin at anaphase)-associated phosphatases PP1/PP2A. Aurora B is overexpressed in many cancers but, surprisingly, this only rarely causes lethal aneuploidy. Here we show
Marilena Ciciarello et al.
Chromosoma, 119(6), 651-668 (2010-07-27)
The GTPase Ran regulates nucleocytoplasmic transport in interphase and spindle organisation in mitosis via effectors of the importin beta superfamily. Ran-binding protein 1 (RanBP1) regulates guanine nucleotide turnover on Ran, as well as its interactions with effectors. Unlike other Ran
Evelien Fredrickx et al.
Glia, 68(6), 1148-1164 (2019-12-19)
Myelin, one of the most important adaptations of vertebrates, is essential to ensure efficient propagation of the electric impulse in the nervous system and to maintain neuronal integrity. In the central nervous system (CNS), the development of oligodendrocytes and the
Erica Hasten et al.
Human molecular genetics, 27(11), 1847-1857 (2018-03-07)
Non-allelic homologous recombination events on chromosome 22q11.2 during meiosis can result in either the deletion (22q11.2DS) or duplication (22q11.2DupS) syndrome. Although the spectrum and frequency of congenital heart disease (CHD) are known for 22q11.2DS, there is less known for 22q11.2DupS.
[Abstracts of the 95th Annual Meeting of the German Society of Pathology. June 16-19, 2011. Leipzig, Germany].
Der Pathologe, 32 Suppl 1, 5-147 (2011-05-06)
Melania Zauri et al.
Nature, 524(7563), 114-118 (2015-07-23)
Cells require nucleotides to support DNA replication and repair damaged DNA. In addition to de novo synthesis, cells recycle nucleotides from the DNA of dying cells or from cellular material ingested through the diet. Salvaged nucleosides come with the complication
Lacy J Barton et al.
Genetics, 197(2), 653-665 (2014-04-05)
The nuclear lamina is an extensive protein network that contributes to nuclear structure and function. LEM domain (LAP2, emerin, MAN1 domain, LEM-D) proteins are components of the nuclear lamina, identified by a shared ∼45-amino-acid motif that binds Barrier-to-autointegration factor (BAF)
Ronan Broderick et al.
The FEBS journal, 280(19), 4888-4902 (2013-08-06)
The replication factor Cdc45 has essential functions in the initiation and elongation steps of eukaryotic DNA replication and plays an important role in the intra-S-phase checkpoint. Its interactions with other replication proteins during the cell cycle and after intra-S-phase checkpoint
Yuko Urata et al.
Biology open, 7(6) (2018-06-16)
Adult newts can regenerate large parts of their brain from adult neural stem cells (NSCs), but how adult NSCs reorganize brain structures during regeneration remains unclear. In development, elaborate brain structures are produced under broadly coordinated regulations of embryonic NSCs
Joshua T Washington et al.
eLife, 10 (2021-04-13)
Given the importance of DNA methylation in protection of the genome against transposable elements and transcriptional regulation in other taxonomic groups, the diversity in both levels and patterns of DNA methylation in the insects raises questions about its function and
Alessandra Tessari et al.
Circulation research, 102(7), 813-822 (2008-02-23)
The Pitx2 gene regulates left-right (L/R) asymmetrical cardiac morphogenesis. Constitutive Pitx2 knock out (ko) mice die before birth and display, among other defects, right atrial isomerism, atrial and ventricular septal defects, and double outlet right ventricle. The myocardial role of
Kok-Lung Chan et al.
The EMBO journal, 26(14), 3397-3409 (2007-06-30)
Mutations in BLM cause Bloom's syndrome, a disorder associated with cancer predisposition and chromosomal instability. We investigated whether BLM plays a role in ensuring the faithful chromosome segregation in human cells. We show that BLM-defective cells display a higher frequency
Jessica R Von Stetina et al.
Development (Cambridge, England), 145(3) (2018-02-15)
Regulation of cell size is crucial in development. In plants and animals two cell cycle variants are employed to generate large cells by increased ploidy: the endocycle and endomitosis. The rationale behind the choice of which of these cycles is
Mohammed Hassan et al.
Cold Spring Harbor molecular case studies, 5(5) (2019-10-28)
Infantile myofibromatosis (IM) is an aggressive neoplasm composed of myofibroblast-like cells in children. Although typically localized, it can also present as multifocal disease, which represents a challenge for effective treatment. IM has previously been linked to activating somatic and germline
Wei Huang et al.
Nature communications, 9(1), 700-700 (2018-02-18)
The goal of replenishing the cardiomyocyte (CM) population using regenerative therapies following myocardial infarction (MI) is hampered by the limited regeneration capacity of adult CMs, partially due to their withdrawal from the cell cycle. Here, we show that microRNA-128 (miR-128)
Hong Xu et al.
Nature communications, 8, 14432-14432 (2017-02-18)
G-quadruplex DNAs form four-stranded helical structures and are proposed to play key roles in different cellular processes. Targeting G-quadruplex DNAs for cancer treatment is a very promising prospect. Here, we show that CX-5461 is a G-quadruplex stabilizer, with specific toxicity
Bethany E Schaffer et al.
Cancer research, 70(10), 3877-3883 (2010-04-22)
Small-cell lung carcinoma (SCLC) is a neuroendocrine subtype of lung cancer. Although SCLC patients often initially respond to therapy, tumors nearly always recur, resulting in a 5-year survival rate of less than 10%. A mouse model has been developed based
Jason D Heaney et al.
Human molecular genetics, 18(8), 1395-1404 (2009-01-27)
The agouti-yellow (A(y)) deletion is the only genetic modifier known to suppress testicular germ cell tumor (TGCT) susceptibility in mice or humans. The A(y) mutation deletes Raly and Eif2s2, and induces the ectopic expression of agouti, all of which are
Biologic profiling of lymph node negative breast cancers by means of microRNA expression.
Janssen, EA; Slewa, A; Gudlaugsson, E; Jonsdottir, K; Skaland, I; S?iland, H; Baak, JP
Modern Pathology null
Overexpression of ubiquitin specific protease 44 (USP44) induces chromosomal instability and is frequently observed in human T-cell leukemia.
Zhang, Y; van Deursen, J; Galardy, PJ
Testing null
Tadashi Nomura et al.
Development (Cambridge, England), 143(1), 66-74 (2016-01-07)
The amplification of distinct neural stem/progenitor cell subtypes during embryogenesis is essential for the intricate brain structures present in various vertebrate species. For example, in both mammals and birds, proliferative neuronal progenitors transiently appear on the basal side of the
Margeaux Wetendorf et al.
Biology of reproduction, 96(2), 313-326 (2017-02-17)
The precise timing of progesterone signaling through its cognate receptor, the progesterone receptor (PGR), is critical for the establishment and maintenance of pregnancy. Loss of PGR expression in the murine uterine epithelium during the preimplantation period is a marker for
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