Mutations cell polarity. Medical search. Frequent questions

In Drosophila and mammals, Lgl contributes to the maintenance of cell polarity and plays a role in asymmetric cell division. (biologists.com)
Adherens junctions (AJs) are thought to be key landmarks for establishing epithelial cell polarity, but the origin of epithelial polarity in Drosophila remains unclear. (rupress.org)
Thus, we examined epithelial polarity establishment during early Drosophila development. (rupress.org)
We found apical accumulation of both Drosophila E-Cadherin (DE-Cad) and the apical cue Bazooka (Baz) as cells first form. (rupress.org)
They determined that the hh gene encodes a family of hh proteins, which mediate both cell-to-cell interactions and has long-range effects in developing Drosophila embryos. (asu.edu)
The dissertation topic focused on genetic patterns in Drosophila embryos and the various mutations that can occur throughout development (Resnik 2012). (wepapers.com)
Here, we reconstructed Par-dependent polarity using non-polarized Drosophila S2 cells expressing all three components endogenously in the cytoplasm. (elifesciences.org)
We used Drosophila Schneider cells (S2 cells) of mesodermal origin, as host cells for cell-autonomous reconstruction of cell polarity ( Schneider, 1972 ). (elifesciences.org)
Toll pathway modulates TNF-induced JNK-dependent cell death in Drosophila . (sdbonline.org)
To identify novel regulators of JNK-dependent cell death, this study performed a dominant-modifier screen in Drosophila and found that the Toll pathway participates in JNK-mediated cell death. (sdbonline.org)
The armadillo (Arm) repeat is an approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila melanogaster segment polarity gene armadillo involved in signal transduction through wingless. (embl.de)
It is now clear that Armadillo and beta-catenin bind directly to members of the T-cell factor/lymphoid enhancer factor subfamily of HMG box DNA-binding proteins, forming bipartite transcription factors that regulate Wingless/Wnt responsive genes in both Drosophila and vertebrates. (embl.de)
Pagliarini and Xu designed a genetic screen in Drosophila to interrogate the genome for mutations that caused noninvasive tumors of the eye disc to invade neighboring or distant tissues. (biomedcentral.com)
It will be greatly informative using the advantages of Drosophila genetics to analyze the specific targets of RasV12 in metastatic cells, to identify other genes that cooperate with RasV12 or other oncogenic alterations in promoting metastasis, and to elucidate the cellular processes that go awry during metastatic progression," conclude the authors. (biomedcentral.com)
Dlkb1, another homologue of LKB1 in Drosophila melanogaster , is required for early anterior-posterior polarity and apical-basal polarity. (biomedcentral.com)

chem mutations genetically interact with mutations in cytoskeletal genes ( arm ) and with mutations in the epithelial polarity genes coracle, crumbs, and yurt . (peerj.com)
Genetic analysis has uncovered that genes necessary for epithelial polarity code for cytoskeletal proteins and their regulators, like the par-3 protein Bazooka ( Kuchinke, Grawe & Knust, 1998 ) or the EGF and laminin domains-containing protein Crumbs ( Tepass, Theres & Knust, 1990 ). (peerj.com)
Mutations in genes with less extreme phenotypes may result in impaired cell movement and cell shape changes, hampering or preventing embryonic dorsal closure and head involution ( Rios-Barrera & Riesgo-Escovar, 2013 ). (peerj.com)
In addition, we show that these alleles genetically interact with epithelial polarity genes, and have epithelial polarity defects. (peerj.com)
In evolutionary developmental biology, homeosis is the transformation of one organ into another, arising from mutation in or misexpression of certain developmentally critical genes, specifically homeotic genes. (wikipedia.org)
Homeosis may be caused by mutations in Hox genes, found in animals, or others such as the MADS-box family in plants. (wikipedia.org)
Systemic manifestations of OFD1 mutations include polycystic kidneys that resemble those caused by mutations in the PKD1 or PKD2 genes associated with autosomal dominating polycystic kidney disease (ADPKD) [1], [2]. (liveconscience.com)
Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown. (medlineplus.gov)
In previous reports, we identified a set of genes regulated by Hh signalling in ovarian tumour cells among which MMP-7 was identified as a potential Hh target gene candidate. (jcancer.org)
We explored molecular markers shared between TDEs and circulating tumor cells (CTCs) in the blood of cancer patients to identify candidate genes involved in CRC metastasis. (researchsquare.com)
To further confirm, the expression of candidate genes was investigated in exosomes derived from the parental HT-29 colorectal cancer cell line (HT-29-EXOs), and cancer stem cells (CSCs) -enriched spheroids (CSC-EXOs) derived thereof. (researchsquare.com)
We speculate that BRAFV600E has altered VDR gene targeting by inducing VDR translocation into the cytosol and/or its association capacity with its target molecules that usually results in the abrogation of cell proliferation, including β-catenin for its cytosolic re-distribution and ubiquitin ligase FBXW7 with which VDR corporately induce the degradation of genes involves in cell cycle arrest like c-myc. (bl.uk)
The GTPase Cdc42 was among the original genes identified with roles in cell polarity, and interest in its cellular roles from yeast to humans remains high. (rupress.org)
After epidermal injury, barrier repair requires activation of many wound response genes in epidermal cells surrounding wound sites. (sdbonline.org)
Planar Cell Polarity (PCP) genes strongly affect neurulation, leading to a complete failure of neural tube closure and craniorachischisis, the most severe form of neural tube defects. (bordeaux-neurocampus.fr)
Studies of the cells and genes of the nematode C. elegans have become a cornerstone of current biology. (cshlpress.com)
They observed that cooperation between oncogenic RasV12 expression and inactivation of any one of a number of genes affecting cell polarity led to metastatic behavior, including basement membrane degradation, loss of E-cadherin expression, migration, invasion, and secondary tumor formation. (biomedcentral.com)
In addition, the authors showed that inactivation of cell polarity genes could not drive metastatic behavior alone or in combination with other tumor-initiating alterations. (biomedcentral.com)
explosion further, consider that a fictitious small genome with 2002) More recently and more dramatically, the potential for 260 genes would host the same number of combinations as cell state conversions is exemplified by the reprogramming of the number of atoms in the visible universe! (lu.se)

This coordination between neighboring cells, essential for embryonic development and tissue patterning, is regulated by the planar cell polarity (PCP) pathway. (psu.edu)
Planar cell polarity enables posterior localization of nodal cilia and left-right axis determination during mouse and Xenopus embryogenesis. (xenbase.org)
Development and Patterning of the Cochlea: From Convergent Extension to Planar Polarity. (bordeaux-neurocampus.fr)
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis. (cdc.gov)
Mutations in planar cell polarity gene SCRIB are associated with spina bifida. (cdc.gov)

Localization of OFD1 to the main cilium of tooth ectomesenchymal odontoblasts and renal epithelial cells is usually therefore speculated to be crucial for proper cellular differentiation of both cell types [3], [4]. (liveconscience.com)
Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma. (cancerindex.org)
The hedgehog signaling pathway is a mechanism that regulates cell growth and differentiation during embryonic development, called embryogenesis, in animals. (asu.edu)
Although those were primarily "basic science" studies, I started to work with patients' schwannoma cells and was intrigued by the interplay between epithelial cells and nerve cells and what happens when genetic mutations lead to aberrant cell polarity and differentiation. (arvo.org)
During metazoan development, the cell cycle is remodelled to coordinate proliferation with differentiation. (eur.nl)
Here, we discuss current understanding of the process of vascular calcification, focusing specifically on the discrete and synergistic effects of calcium and phosphate in mediating vascular smooth muscle cell apoptosis, osteochondrocytic differentiation, vesicle release, calcification inhibitor expression, senescence, and death. (scite.ai)
Our data indicate that TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis, thereby promoting MIA-CID development. (knaw.nl)
Furthermore, the degree of the proliferation and osteogenic differentiation of mesenchymal stem cells (MSCs) co-cultured with HGC-27 or SGC-7901 cells was analyzed by colony-formation assay, alizarin red staining, immunofluorescence, qPCR, immunoblotting, and alkaline phosphatase activity assay. (aging-us.com)
miR-203 drives breast cancer cell differentiation. (medscape.com)
Stem and progenitor cell populations are often heterogeneous, which may reflect stem cell subsets that express subtly different properties, including different propensities for lineage selection upon differentiation, yet remain able to interconvert. (lu.se)
A key challenge is to understand how state, but must also afford flexibility in cell-fate choice to permit the different cell-fate options confronting stem and progenitor cell-type diversification and differentiation in response to cells are selected and coordinated such that adoption of a given intrinsic cues or extrinsic signals. (lu.se)
Evidence the fate of stem cells has broad ramifications for biomedical suggests that during development or differentiation, cells make science from elucidating the causes of cancer to the use of very precise transitions between apparently stable ``network stem cells in regenerative medicine. (lu.se)

A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. (cancerindex.org)
Additionally, approximately 66% of melanomas harbour the BRAFV600E mutation, which represents a constitutive signal of the mitogen-activated protein kinase (MAPK) that is known to phosphorylate a range of substrates, resulting in the regulation involved in hyper-proliferation and survival of transformed cells. (bl.uk)
Mammalian STE20-like kinase MST4 regulates multiple cellular aspects such as cell polarity and proliferation. (rcsb.org)
For the first time we show that, PKC-3, a key component of the machinery that determines the front (anterior) from the back (posterior) of the embryo directly controls SLD-2 distribution, which might explain how the polarisation of the embryo causes changes in the proliferation of different cell lineages. (eur.nl)
As PKC-3 is frequently mutated in human cancers, how this factor controls cell proliferation may be important to understand tumour progression. (eur.nl)
The tumor suppressor LKB1 is an essential serine/threonine kinase, which regulates various cellular processes such as cell metabolism, cell proliferation, cell polarity, and cell migration. (web.app)

Germline mutations in this gene leads to Peutz-Jeghers Syndrome (PJS), an autosomal dominant syndrome characterised by hamartomatous polyposis, mucocutaneous pigmentation, and a lifetime risk of cancer ranging from 37 to 93 per cent. (medicalindependent.ie)

These results extend the phenotype of HNF1B mutations to include hypomagnesemia. (scite.ai)
A decade ago, rare human mutations were identified that either negatively (osteoporosis pseudoglioma syndrome) or positively (high-bone mass phenotype, sclerosteosis and Van Buchem disease) affect bone formation. (aging-us.com)
In vitro analysis revealed that loss of LKB1 expression enhanced migration, invasion and the acquisition of mesenchymal phenotype, while LKB1 overexpression in MDA-MB-435 s cells, which have a low basal level of LKB1 expression, promoted the acquisition of epithelial phenotype. (biomedcentral.com)
Knockdown of endogenous LKB1 gave rise to dysregulation of cell polarity and invasive phenotype of breast cancer cells. (biomedcentral.com)
A very recent work shows that ENU-generated DISC1 L100P mice have multiple ENU-induced mutations which sum up to produce the phenotype [ 14 ]. (biomedcentral.com)
Although clinical features vary more among families than within families, no clear-cut link exists between specific mutations and phenotype. (medscape.com)

Mutation of the X-linked oral-facial-digital syndrome type 1 (OFD1) gene is embryonic lethal in males and results in craniofacial malformations and adult onset polycystic kidney disease in females. (liveconscience.com)
Prior to SCNT, the somatic cell (differentiated) must be reprogramed to a similar state of a pluripotent embryonic cell (undifferentiated) before the nucleus is extracted and transferred. (sibi.org)
183:1129-1143) provide new insights into how Cdc42 and Par proteins work together to modulate cell adhesion and polarity during embryonic morphogenesis by regulating the traffic of key cell junction proteins. (rupress.org)
Mutations that bypass the requirement for CDKs to generate interactions between these factors is partly sufficient for viability in the absence of Cyclin E, demonstrating that this is a critical embryonic function of this Cyclin. (eur.nl)
Par4, a homologue of human LKB1, has been found to control Caenorhabditis elegans embryonic polarity by regulating activities of anillin family scaffold proteins [ 8 ],[ 9 ]. (biomedcentral.com)
We discuss these properties with examples both from the hematopoietic and embryonic stem cell (ESC) systems. (lu.se)

By definition selectors were imagined to be (transcription factor) proteins that stably determined one of two possible cell fates for a cell and its cellular descendants in a tissue. (wikipedia.org)
In addition to the PAR proteins, other proteins are required for polarity in many metazoans. (biologists.com)
In metazoans, cell polarity is mediated in part by a conserved set of regulatory proteins, known collectively as the PAR (partitioning-defective) proteins. (biologists.com)
A hallmark of PCP is the polarized, asymmetric localization of core PCP proteins at cell junctions, which is driven by intercellular interactions of cadherin family member Celsr. (psu.edu)
This polarity is maintained by certain proteins, which sit on the apical (top) or basal/lateral (bottom) cell membrane and signal to one another or to cell-cell junctions. (northwestern.edu)
However, when any of other remaining four proteins (which all are also known to regulate polarity) bind to Scribble, active PP1 is released to specific sites on the cell membrane to enact a dephosphorylation of specific targets. (northwestern.edu)
In its GTP-bound form, Cdc42 binds several effectors that help direct polarized cell growth: repolarizing actin and microtubules, directing polarized exocytosis via this reoriented cytoskeleton and by direct contact with exocytic machinery, and recruiting proteins such as septins that form a boundary restricting the region of cell growth. (rupress.org)
Par proteins, like Cdc42, play conserved roles in cell polarity in many contexts, from early embryos to epithelial apical-basal polarity ( Goldstein and Macara, 2007 ). (rupress.org)
In mammals, PTCH is an important inhibitor in the so-called hedgehog (HH) signaling pathway, whose downstream proteins can lead to cell growth. (medscape.com)

Embryos with strongly disrupted apico-basal polarity do not develop, and result in lethal mutant phenotypes where only small pieces of cuticle are synthesized. (peerj.com)

PJS is autosomal-dominant condition caused by mutations of STK11, characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and predisposition to a range of epithelial cancers: including colorectal, gastric, pancreatic, breast, ovarian cancers and sex cord tumors with annular tubules). (cancerindex.org)
Recent research has classified lung adenocarcinoma patients with KRAS mutation into three subtypes by co-occurring genetic events in TP53 (KP subgroup), STK11/LKB1 (KL subgroup) and CDKN2A/B inactivation plus TTF-1 low expression (KC subgroup). (cancerindex.org)
Primary STK11 adnexal tumours are a novel entity of rare malignancies harbouring a serine/threonine kinase 11 (STK11) gene mutation, which was first described in August 2021. (medicalindependent.ie)
LKB1, also known as STK11 , is a master kinase that serves as an energy metabolic sensor and is involved in cell polarity regulation. (biomedcentral.com)
The tumor suppressor gene LKB1, also known as serine/threonine protein kinase 11 (STK11 ), encodes a serine/threonine protein kinase that has multiple cellular functions, including tumor suppression, cell cycle regulation, and promotion of apoptosis. (biomedcentral.com)

Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
Germ line mutations of LKB1 give rise to Peutz-Jeghers Syndrome (PJS), a rare cancer susceptibility syndrome characterized by predisposition to gastrointestinal polyposis, mucocutaneous melanin pigmentation and multi-organ cancer susceptibility [ 1 ],[ 2 ]. (biomedcentral.com)

LKB1 also plays crucial roles in establishment and maintenance of cell polarity. (biomedcentral.com)

chem mutants dorsal open defects are similar to those present in yurt mutants, and, likewise, they have epithelial polarity defects. (peerj.com)
Thus, Baz acts upstream of AJs during epithelial polarity establishment. (rupress.org)
Thus, although epithelial polarity develops in the absence of AJs, AJs play specific roles in maintaining epithelial architecture and segregating basolateral cues. (rupress.org)
AJs localize to the boundary between the apical and basolateral domains, and are thought to be critical landmarks for establishing epithelial polarity ( Nelson, 2003 ). (rupress.org)

Autosomal recessive inherited condition - due to mutation in MYO5B . (librepathology.org)
NBCCS, also known as basal cell nevus syndrome (BCNS), is an autosomal dominant syndrome caused by mutations in the PTCH (patched) gene found on chromosome arm 9q. (medscape.com)

First elucidated in fruit flies, the protein product of the PTCH gene is important in determining segment polarity of wings and limbs (anterior-posterior relationships in developing embryos). (medscape.com)

This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. (cancerindex.org)
This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
When patients whose tumors bear the sensitizing mutations are treated with the tyrosine kinase inhibitors gefitinib or erlotinib, we witness response rates and durations never before reported, including complete responses. (aacrjournals.org)
While the defined roles of the c-Jun N-terminal kinase (JNK) pathway in regulating cell death have been well-established, additional factors that modulate JNK-mediated cell death have yet to be fully elucidated. (sdbonline.org)
Atomic resolution permitted the study of interface mutations capable of disrupting the MST4-MO25 interaction or the kinase-domain-mediated homodimerization. (rcsb.org)
These mutations impaired MST4 kinase activation and function within the cell. (rcsb.org)
Intestinal organoid cultures from patient biopsies displayed an inversion of apicobasal polarity of the epithelial cells that was normalized by pharmacological inhibition of Rho kinase. (knaw.nl)

Most tumors originate in the epithelial tissue and loss of polarity is a common occurrence in tumor progression. (pasteur.fr)
This has led to the question of whether EGFR remains a viable target in patients other than those whose tumors contain mutations, and whether the modest activity of cetuximab in colorectal cancer and head and neck cancer represents all that we can expect from inhibition of this pathway in the absence of mutation. (aacrjournals.org)
Breast metastatic tumors in lung can be substituted by lung-derived malignant cells transformed by alternative splicing H19 lncRNA. (medscape.com)

When investigating the causes of this failure via cellular and molecular analysis of 2-cell zygotes and the successive cell divisions (blastomeres), all kinds of abnormalities were found. (sibi.org)
Tumor-derived EV modulates cellular activities in recipient cells by transferring genetic information from cancer cells. (researchsquare.com)
Polarization is a fundamental cellular property that plays a vital role in various biological processes in multi-cellular as well as single-cell organisms. (elifesciences.org)
This protein plays key roles in cellular metabolism, cell polarity and DNA repair. (medicalindependent.ie)
A cellular process that selectively eliminates cells with mutations from further development through short-range cell-cell interaction. (bvsalud.org)

It localizes asymmetrically to the posterior of the early embryo in a PKC-3-dependent manner, and functions redundantly with PAR-2 to maintain polarity. (biologists.com)
A previously unknown mechanism involving the protein Scribble helps maintain polarity in cells, according to a Northwestern Medicine study published in the Journal of Biological Chemistry . (northwestern.edu)
Searching for this mechanism, the scientists measured the breadth of protein interactors on the cell membrane that are present in the functional Scribble and its mutant that is unable to maintain polarity. (northwestern.edu)

True cloning performed by nuclear transfer from an adult and differentiated somatic cell to a previously enucleated egg (somatic cell nuclear transfer, SCNT), gives rise to a new cell, the nuclovulo (nucleus+ovum), distinct from the zygote because the sperm is not involved in its creation, while both can develop as embryos and give rise to offspring. (sibi.org)

Alternatively, cells that sense injury or loss of mitochondrial integrity may undergo programmed cell death (apoptosis). (massgenomics.org)
MO25-stimulated activation of MST4 promotes apoptosis in HEK293T cells. (rcsb.org)

The hedgehog signaling pathway works both between cells and within individual cells. (asu.edu)
Mechanisms of pathway activation other than mutation have been discovered in recent years, and include overexpression mediated by gene amplification or by amplification of a dinucleotide repeat in the EGFR promoter, mutation of an extracellular region on EGFR generating a mutant protein termed EGFRvIII, and enhanced signaling due to heterodimerization with other members of the EGFR family, particularly overexpression of HER2/HER3. (aacrjournals.org)
Similar alterations within the VDR signalling pathway are known to occur in the context of colon cancer, in which a diminished response of 1,25D3 signal is associated with increased expression of the epithelial mesenchymal transcription factor (EMT) SNAIL1, which can directly inhibit the activities of VDR and E-cadherin, resulting in epithelial cells to lose their polarity. (bl.uk)
Epistasis analysis suggests that the Toll pathway acts as a downstream modulator for JNK-dependent cell death. (sdbonline.org)
Furthermore, the Spätzle (Spz) family ligands for the Toll receptor are transcriptionally upregulated by activated JNK signalling in a non-cell-autonomous manner, providing a molecular mechanism for JNK-induced Toll pathway activation. (sdbonline.org)
We also found that cilia formation of MSCs was increased in the presence of HGC27 cells, which was associated with abnormal activation of the Wnt/β-catenin pathway. (aging-us.com)
In summary, our results suggest that gastric cancer cells might cause bone damage prior to the occurrence of bone metastasis via cilia-dependent activation of the Wnt/β-catenin signaling pathway. (aging-us.com)

Nearly twenty years ago Cdc42 was recognized as an essential link between polarity cues and the machinery that generates cell polarity ( Bender and Pringle, 1989 ). (rupress.org)

We show that these factors are differently distributed to different cell lineages in the early embryo, which may be a key event in determining the cell cycle rate in these cells. (eur.nl)

One major line of research on the process of carcinogenesis lies in understanding the mechanisms underpinning the establishment of polarity. (pasteur.fr)
The Membrane Traffic and Cell Division Laboratory, directed at the Institut Pasteur by Arnaud Echard (Institut Pasteur/CNRS UMR 3691), is looking into apical-basal polarity acquisition mechanisms during cell division when organs are being formed. (pasteur.fr)
During my postdoc studies at Cornell with Professor Anthony Bretscher, I studied MERLIN ― a member of the ERM family that is involved in cell polarization and the molecular mechanisms underlying hereditary neurofibromatosis type 2. (arvo.org)
Neurodegeneration and neurodegenerative diseases (including the shared mechanisms of nerve cell death that contribute to many diseases), Vascular Cognitive Impairment and Dementia (VCID), NINDS tissue/cell resources, basic invertebrate neuromuscular junction (NMJ). (nih.gov)
Cells already have an array of intrinsic defense mechanisms that halt the transformation process. (massgenomics.org)
In our research studies we investigate patient-derived human induced pluripotent stem cells differentiated to retinal organoids, to determine underlying disease mechanisms and test new genetic therapies. (cmrijeansforgenes.org.au)

I thus became specifically interested in retinitis pigmentosa (RP), as many of the mutations that cause RP are associated with defects in cell polarity and affect both retinal pigment epithelium (RPE) and photoreceptors. (arvo.org)
Association of PKD2 (polycystin 2) mutations with left-right laterality defects. (xenbase.org)

In blue are the primary cilia ("antennae") leaving the cells via their apical poles. (pasteur.fr)
Cilia are microtubule -based structures that either transmit information into the cell or move fluid outside of the cell. (xenbase.org)

To test this, here we generated a new mouse strain carrying a Mysm1D660N point mutation (Mysm1DN) and demonstrated that the mutation renders MYSM1 protein catalytically inactive. (bvsalud.org)
We demonstrate that relatively short single-stranded oligodeoxynucleotides, 25-61 bases homologous to the target sequence except for a single mismatch to the targeted base, are capable of correcting a single point mutation (G to A) in the mutant beta-galactosidase gene, in nuclear extracts, episome, and chromosome of mammalian cells, with correction rates of approximately 0.05%, 1% and 0.1%, respectively. (nih.gov)

Matrix metalloproteinase-7 (MMP-7) facilitates degradation of the extracellular matrix, promoting the invasion of tumour cells, and is associated with cancer progression and metastasis. (jcancer.org)
MMP-7 facilitated the invasion and migration of ovarian tumour cells, indicating its key function in ovarian cancer progression. (jcancer.org)
They also discovered that the location of the apical domain is dependent on a direct link between Rab35 and another apical protein, Podocalyxin, which is already known to control polarity and is involved in tumor progression. (pasteur.fr)
Oncogenes such as Ras are thought to be involved in both tumorigenesis and metastasis, but the specific involvement of Ras in tumor progression has been difficult to identify, as the effects of Ras in cell culture depend greatly upon the cell line used. (biomedcentral.com)
The uremic milieu provides a perfect storm of risk factors for accelerated calcification, but elevated calcium and phosphate levels remain key to the initiation and progression of vascular smooth muscle cell calcification in CKD. (scite.ai)

Dentate gyrus (DG) granule cells carrying homozygous mutation of L100P exhibit decreased synaptic excitation and intact synaptic inhibition, meanwhile Schaffer collateral-CA1 synapses of L100P mice display impaired synaptic plasticity. (biomedcentral.com)

The Eye Genetics Unit, led by Professor Robyn Jamieson, is focused on genomic, stem cell and genetic therapy applications for maximization of the genetic diagnostic rate and new therapies for blinding genetic eye diseases. (cmrijeansforgenes.org.au)

However, little work has been done on the roles of LKB1 in cell polarity and epithelial-mesenchymal transition in breast cancer. (biomedcentral.com)
In this study, we tried to prove that loss of LKB1 disrupts breast epithelial cell polarity and causes tumor metastasis and invasion. (biomedcentral.com)
Then, the LKB1 expressions in metastatic and non-metastatic breast cancer cell lines were compared. (biomedcentral.com)
The roles of LKB1 in cell polarity and epithelial-mesenchymal transition in breast cancer were determined by using immunofluorescence, western blot assay, and cell migration and invasive assays. (biomedcentral.com)
Finally, the non-transformed human breast cell line MCF-10A was cultured in three dimensions to further reveal the role of LKB1 in breast epithelial cell polarity maintenance. (biomedcentral.com)
Finally, it was found for the first time that endogenous LKB1 knockdown resulted in abnormal cell polarity in acini formed by non-transformed breast epithelial cells grown in 3D culture. (biomedcentral.com)
Thus, LKB1 regulates multiple biological pathways involved in cell growth and metabolism. (biomedcentral.com)
Furthermore, LKB1 helps establish and maintain cell polarity in mammals. (biomedcentral.com)

At the core of AJs, cadherins mediate cell-cell adhesion through Ca 2+ -dependent homophilic interactions between their extracellular domains. (rupress.org)
The hormonally active form of vitamin D, 1,25-dihydroxyvitamin D (1,25D3), has shown to induce anti-cancerous effects through its cognate vitamin D receptor (VDR), in part through inducing the cell-cell adhesion molecule E-cadherin and inhibiting Wnt/β-catenin signalling. (bl.uk)
Beta-catenin is essential for cadherin-based cell adhesion and Wnt/Wingless growth factor signaling. (embl.de)
Its signaling activity is distinct from its role in cadherin-mediated cell adhesion, and it probably acts either in the cytosol or in the nucleus. (embl.de)

I love that I learn new things almost daily and that my studies not only expand our scientific understanding of retinal cell biology, but may also lead to treatment development and thus may have a direct effect on patients' lives. (arvo.org)
They may lead to treatment protecting corneal epithelial cells in dry eye patients and for better and safer gene therapy delivery for retinal degeneration patients. (arvo.org)
The establishment of the Restorative Retinal Research Lab at the Sheba Medical Center, where we grow patients' induced pluripotent stem cell (iPSC)-derived retinal models with rare mutations for which they are no good animal models and use these models for drug screening. (arvo.org)
They are caused by abnormality of photoreceptor (PR) cells, with retinal pigment epithelial (RPE) cells also affected. (cmrijeansforgenes.org.au)
The human retina is an inaccessible organ for functional biological assays, so human induced pluripotent stem cell (hiPSC)-derived retinal organoids and RPE cells provide an exciting solution system for improved diagnosis and for assessment of therapies in these conditions. (cmrijeansforgenes.org.au)
Single cell transcriptomic studies in retinal organoids are used to interrogate pathways affected in these retinal conditions. (cmrijeansforgenes.org.au)
While some AAV serotypes are in use for subretinal delivery in retinal diseases, there is a need for improved precision and efficacy through delivery of therapeutic constructs to the correct cells, and intravitreal delivery would add additional safety. (cmrijeansforgenes.org.au)
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, and retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features such as coat's like vasculopathy in retinitis pigmentosa patients. (biomedcentral.com)
CRB1 gene mutations are associated with remarkable retinal findings in patients with retinitis pigmentosa and other fundus dystrophies. (biomedcentral.com)

These structures maintain apical Baz, accumulate apical Crumbs, and organize polarized cytoskeletons, but display abnormal cell morphology and fail to segregate the basolateral cue Discs large from the apical domain. (rupress.org)
To use the proper terminology, they are organized with an apical pole and basolateral pole ('apical-basal' polarity). (pasteur.fr)
Using a 3D in vitro polarity model, scientists have demonstrated full polarity inversion in renal cells deprived of Rab35, whereby the apical domain switches places with the basolateral domain. (pasteur.fr)
Note that the functional mutant is located exclusively at the basolateral membrane of the cells, while the nonfunctional mutant is localized throughout the entire membrane. (northwestern.edu)

1) Membrane Traffic and Cell Division Lab, Cell Biology and Infection Department, Institut Pasteur, 25-28 rue du Dr Roux, 75724 Paris, France. (pasteur.fr)
Toward these efforts, the lab utilizes the mammalian skin as a model system, along with cell and molecular biology, biochemistry and advanced imaging approaches. (psu.edu)
COSEM Project Team 2023, ' Architecture and dynamics of a desmosome-endoplasmic reticulum complex ', Nature Cell Biology , vol. 25, no. 6, pp. 823-835. (psu.edu)
Sergey Troyanovsky, PhD, professor of Dermatology and of Cell and Developmental Biology, was senior author of the study published in the Journal of Biological Chemistry. (northwestern.edu)
This new mechanism sheds light on the complex web of systems that keep cells pointing in the correct direction, according to Sergey Troyanovsky, PhD , professor of Dermatology , of Cell and Developmental Biology and senior author of the study. (northwestern.edu)
Brian Mitchell, PhD , associate professor of Cell and Developmental Biology and member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University, was co-author of the study. (northwestern.edu)
Signalling networks that control the life or death of a cell are of central interest in modern biology. (sdbonline.org)
This volume is a must for any investigator doing worm studies but it has been written and rigorously edited to illuminate for a wider community of investigators in cell and molecular biology who should know how new knowledge of C. elegans relates to their own specialty. (cshlpress.com)
Therefore, anyone with an interest in cell and developmental biology, regardless of their area of specialisation, would benefit from reading C. elegans II . (cshlpress.com)
State Key Laboratory of Cell Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China. (rcsb.org)
Here, we discuss how research has driven cancer drug development in the past and describe how recent advances in biology, technology, our conceptual understanding of cell networks and removal of some roadblocks may facilitate therapeutic advances in the (hopefully) near future. (biomedcentral.com)
Importantly, vast amounts of information about features distinguishing tumor from normal cells is being accumulated, resulting in frequent, major new insights into cancer biology. (biomedcentral.com)
Understanding cell-fate decisions in stem cell populations is a major goal of modern biology. (lu.se)

Twenty years have passed since Dolly the sheep was born by cloning (somatic cell nuclear transfer, SCNT) but the results of non-human mammalian cloning are very poor, and cause animal diseases and huge biological losses. (sibi.org)
So far the reprogramming of somatic cells shows very low rates of efficiency (~0.0006-1%) that have not improved in the last two decades of continuous research. (sibi.org)
Despite immense promise, somatic cell reprogramming still faces a critical challenge. (sibi.org)
In reality, gene somatic cells to a pluripotent cell state by a handful of transcrip- expression is graded, making the potential gene expression tion factors (Takahashi and Yamanaka, 2006). (lu.se)

LGL-1 negatively regulates the accumulation of myosin (NMY-2) on the posterior cortex, representing a possible mechanism by which LGL-1 might contribute to polarity maintenance. (biologists.com)
This work therefore describes a new mechanism enabling normal polarity to be established. (pasteur.fr)
About one-third of this protein is sufficient to maintain correct polarity of the cells, but the mechanism of this activity was unclear, Troyanovsky said. (northwestern.edu)
For an genomes thought to have arisen through organism with a very high mutation rate, an homologous recombination have recently been efficient recombination mechanism provides at discovered in nature (3). (cdc.gov)

1994), raising the possibilityaction of signals that impose regional character on cells that this gene participates in the specification of neuronalat different rostrocaudal positions within the neural plate identity within the forebrain as well as at more caudal levels(Doniach et al. (fliphtml5.com)
There is broad agreement that studying rare, highly penetrant risk mutations, for example DISC1 , in animal models can not only shed light on the neural integrity of DISC1 and its relevance to neuropsychiatric disorders, but also help to decipher gene-environment interactions in those illnesses. (biomedcentral.com)

N -ethyl- N -nitrosourea (ENU)-induced inheritable missense point mutations in exon 2 of the mouse DISC1 gene have been of particular interest since Q31L mutant mice showed depression-like behaviors while L100P mutants showed schizophrenia-like phenotypes [ 4 ]. (biomedcentral.com)

In this unique case we are reporting the incidence of coat's like vasculopathy in a patient diagnosed with Leber congenital amaurosis caused by CRB1 gene mutation, and its management. (biomedcentral.com)

While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia. (scite.ai)

Zhang H, Wang Y, Chen T, Zhang Y, Xu R, Wang W, Cheng M, Chen Q. Aberrant Activation Of Hedgehog Signalling Promotes Cell Migration And Invasion Via Matrix Metalloproteinase-7 In Ovarian Cancer Cells. (jcancer.org)
These results demonstrate that the second beta subunit can partially compensate for loss of betaPS integrins, and that integrins are essential for migration of the primordial midgut cells. (nih.gov)
Other examples of developmental cell migration, such as that of the primordial germ cells, occurred normally in the absence of integrins. (nih.gov)

Cdc42 also affects other aspects of cell polarity, including microtubule dynamics, centrosome positioning, and Golgi reorientation. (rupress.org)

Mutations in the MYO5B gene cause microvillus inclusion disease. (medlineplus.gov)
MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. (medlineplus.gov)
Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. (medlineplus.gov)

The one-cell C. elegans embryo serves as a model for studying the establishment and maintenance of polarity. (biologists.com)

Indeed, loss of epithelial cell polarity is associated with tumor development and metastasis. (rupress.org)

These roles are possible since epithelial cells are non-symmetrical and organized into two opposite poles. (pasteur.fr)
These partners not only play key roles in a variety of cell fate decisions during normal development but, when inappropriately activated, contribute to both colon cancer and melanoma. (embl.de)

By revealing the role of Rab35 in polarity, they have demonstrated how this GTPase could be involved in the tumor process, explaining the oncogenic effect of Rab35 mutations recently detected in some patients. (pasteur.fr)
This study revealed novel findings, demonstrating that oncogenic V600E mutation elicits an acquired dependency of VDR expression, instigating an impaired VDR function in BRAFV600E melanoma. (bl.uk)

The polycystins have pivotal EGFR functions in calcium dependent signaling to multiple pathways and loss of signaling rules when the protein are mutant is usually thought to cause epithelial cell transdifferentiation and contribute to renal cyst development [2]. (liveconscience.com)
Here, we show that mouse ureteric smooth muscle cell (SMC) precursors express the transcription factor teashirt 3 (TSHZ3), and that Tshz3-null mutant mice have congenital hydronephrosis without anatomical obstruction. (scite.ai)

For any organism with a genome sequence fuse into a single progeny, 2) the genetic exactly on a peak on the fitness landscape, every information of the parental strains is recombined, new mutation is by definition not beneficial. (cdc.gov)
The eye is an ideal organ to apply advanced genome engineering, AAV, stem cell and other therapeutic technologies, due to its relatively small size (so less demand on the scale-up of the technology), and its ease of accessibility. (cmrijeansforgenes.org.au)

We have found that the C. elegans homolog of Lgl, LGL-1, has a role in polarity but is not essential. (biologists.com)

During gastrulation the absence of AJs results in widespread cell dissociation and depolarization. (rupress.org)
Thus far, published clinical data suggest that there is little room for the administration of gefitinib or erlotinib in the absence of EGFR mutations. (aacrjournals.org)

Homeotic mutations work by changing segment identity during development. (wikipedia.org)

Anatomy37

Organisms20

Diseases5

Chemicals and Drugs84

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Phenomena and Processes82

Disciplines and Occupations1

Information Science4

Health Care2

Drosophila15

Genes19

Planar5

Differentiation12

Proliferation6

Germline1

Phenotype6

Embryonic6

Proteins9

Apico-basal polarity1

STK115

Peutz-Jeghers2

Maintenance of cell polarity1

Epithelial polarity4

Autosomal2

Anterior-posterior1

Kinase7

Tumors3

Cellular5

Maintain polarity3

Embryos1

Apoptosis2

Pathway7

Cues1

Early embryo1

Mechanisms6

Defects2

Cilia2

Point mutation2

Progression5

Homozygous1

Genetics1

LKB18

Adhesion4

Retinal9

Basolateral4

Biology13

Somatic4

Mechanism4

Neural2

Missense1

Gene mutation1

Phenotypes1

Migration3

Microtubule1

MYO5B3

Establishment and maintenance1

Metastasis1

Roles2

Oncogenic2

Mutant2

Genome2

Elegans1

Absence2

Segment1