Log in

Relevant bibliographies by topics / TRPS1 gene

Contents

Journal articles
Dissertations / Theses
Books
Book chapters
Conference papers

Academic literature on the topic 'TRPS1 gene'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'TRPS1 gene.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "TRPS1 gene"

1

Dias, Catarina, Lara Isidoro, Mafalda Santos, Helena Santos, and Jorge Sales Marques. "Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene." Case Reports in Genetics 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/748057.

Full text

Abstract:

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses.Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities.Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.

APA, Harvard, Vancouver, ISO, and other styles

2

Kantaputra, P., I. Miletich, H. J. Lüdecke, E. Y. Suzuki, V. Praphanphoj, R. Shivdasani, M. Wuelling, A. Vortkamp, D. Napierala, and P. T. Sharpe. "Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth." Journal of Dental Research 87, no. 11 (November 2008): 1027–31. http://dx.doi.org/10.1177/154405910808701102.

Full text

Abstract:

Tricho-rhino-phalangeal syndromes (TRPS) are caused by mutation or deletion of TRPS1, a gene encoding a GATA transcription factor. These disorders are characterized by abnormalities of the hair, face, and selected bones. Rare cases of individuals with TRPS displaying supernumerary teeth have been reported, but none of these has been examined molecularly. We used two different approaches to investigate a possible role of TRPS1 during tooth development. We looked at the expression of Tprs1 during mouse tooth development and analyzed the craniofacial defects of Trps1 mutant mice. In parallel, we investigated whether a 17-year-old Thai boy with clinical features of TRPS and 5 supernumerary teeth had mutation in TRPS1. We report here that Trps1 is expressed during mouse tooth development, and that an individual with TRPS with supernumerary teeth has the amino acid substitution A919V in the GATA zinc finger of TRPS1. These results suggest a role for TRPS1 in tooth morphogenesis.

APA, Harvard, Vancouver, ISO, and other styles

3

Herrero-García, Ana, Purificación Marín-Reina, Gloria Cabezuelo-Huerta, M. Belén Ferrer-Lorente, Mónica Rosello, Carmen Orellana, Francisco Martínez, and Antonio Pérez-Aytés. "Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion." Journal of Pediatric Genetics 09, no. 01 (September 3, 2019): 053–57. http://dx.doi.org/10.1055/s-0039-1694779.

Full text

Abstract:

AbstractLanger–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassing EXT1 and RAD21 genes but not TRPS1. Clinical findings in this patient are correlated with a mixed phenotype of LGS and CdLS type 4.

APA, Harvard, Vancouver, ISO, and other styles

4

Penolazzi, Letizia, Elisabetta Lambertini, Leticia Scussel Bergamin, Carlotta Gandini, Antonio Musio, Pasquale De Bonis, Michele Cavallo, and Roberta Piva. "Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells." Cells 8, no. 10 (September 28, 2019): 1170. http://dx.doi.org/10.3390/cells8101170.

Full text

Abstract:

Intervertebral disc (IVD), a moderately moving joint located between the vertebrae, has a limited capacity for self-repair, and treating injured intervertebral discs remains a major challenge. The development of innovative therapies to reverse IVD degeneration relies primarily on the discovery of key molecules that, occupying critical points of regulatory mechanisms, can be proposed as potential intradiscal injectable biological agents. This study aimed to elucidate the underlying mechanism of the reciprocal regulation of two genes differently involved in IVD homeostasis, the miR-221 microRNA and the TRPS1 transcription factor. Human lumbar IVD tissue samples and IVD primary cells were used to specifically evaluate gene expression and perform functional analysis including the luciferase gene reporter assay, chromatin immunoprecipitation, cell transfection with hTRPS1 overexpression vector and antagomiR-221. A high-level expression of TRPS1 was significantly associated with a lower pathological stage, and TRPS1 overexpression strongly decreased miR-221 expression, while increasing the chondrogenic phenotype and markers of antioxidant defense and stemness. Additionally, TRPS1 was able to repress miR-221 expression by associating with its promoter and miR-221 negatively control TRPS1 expression by targeting the TRPS1-3′UTR gene. As a whole, these results suggest that, in IVD cells, a double-negative feedback loop between a potent chondrogenic differentiation suppressor (miR-221) and a regulator of axial skeleton development (TRPS1) exists. Our hypothesis is that the hostile degenerated IVD microenvironment may be counteracted by regenerative/reparative strategies aimed at maintaining or stimulating high levels of TRPS1 expression through inhibition of one of its negative regulators such as miR-221.

APA, Harvard, Vancouver, ISO, and other styles

5

Fischer, Sascha B., Michelle Attenhofer, Sakir H. Gultekin, Donald A. Ross, and Karl Heinimann. "TRPS1 gene alterations in human subependymoma." Journal of Neuro-Oncology 134, no. 1 (May 20, 2017): 133–38. http://dx.doi.org/10.1007/s11060-017-2496-7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Wolfe, Viktoriya, and Nachammai R. Chinnakaruppan. "Trichorhinopharyngeal Syndrome Type 1 and Trisomy 21: A Patient with 2 Genetic Mutations." Journal of Neonatology 34, no. 4 (December 2020): 243–45. http://dx.doi.org/10.1177/0973217920981356.

Full text

Abstract:

Trichorhinophalangeal syndrome (TRPS) Type I is a rare, autosomal dominant genetic syndrome with a spectrum of characteristics affecting hair, craniofacial, and skeletal development. It was first described in 1966 by Giedion based on three main features of sparse hair, bulbous nasal tip, and short deformed fingers. TRPS Type I is generally associated with mutations or microdeletions in the TRPS1 gene on chromosome 8q23.3, with translocations on this chromosomal arm also reported. The prevalence of TRPS Type I is unknown due to varying and subtle presenting features. Approximately 100 cases of TRPS Type I and III and 100 cases of TRPS Type II have been described and published up until 2017. We describe the neonatal course of an infant with TRPS Type I and Trisomy 21, two chromosomal anomalies prenatally diagnosed. To our knowledge, this is the first report of TRPS with Trisomy 21.

APA, Harvard, Vancouver, ISO, and other styles

7

Asou, Norio, Masatoshi Yanagida, Liqun Huang, Masayuki Yamamoto, Katsuya Shigesada, Hiroaki Mitsuya, Yoshiaki Ito, and Motomi Osato. "Concurrent transcriptional deregulation of AML1/RUNX1 and GATA factors by the AML1-TRPS1 chimeric gene in t(8;21)(q24;q22) acute myeloid leukemia." Blood 109, no. 9 (January 23, 2007): 4023–27. http://dx.doi.org/10.1182/blood-2006-01-031781.

Full text

Abstract:

Abstract The Runt domain transcription factor AML1/RUNX1 is essential for the generation of hematopoietic stem cells and is the most frequent target of chromosomal translocations associated with leukemia. Here, we present a new AML1 translocation found in a patient with acute myeloid leukemia M4 with t(8;21)(q24;q22) at the time of relapse. This translocation generated an in-frame chimeric gene consisting of the N-terminal portion of AML1, retaining the Runt domain, fused to the entire length of TRPS1 on the C-terminus. TRPS1 encodes a putative multitype zinc finger (ZF) protein containing 9 C2H2 type ZFs and 1 GATA type ZF. AML1-TRPS1 stimulated proliferation of hematopoietic colony-forming cells and repressed the transcriptional activity of AML1 and GATA-1 by 2 different mechanisms: competition at their cognate DNA-binding sites and physical sequestrations of AML1 and GATA-1, suggesting that simultaneous deregulation of AML1 and GATA factors constitutes a basis for leukemogenesis.

APA, Harvard, Vancouver, ISO, and other styles

8

Chen, L.-H., C.-C. Ning, and S.-C. Chao. "Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients." British Journal of Dermatology 163, no. 2 (April 12, 2010): 416–19. http://dx.doi.org/10.1111/j.1365-2133.2010.09802.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Zhang, Ying, Rong-lin Xie, Jonathan Gordon, Kimberly LeBlanc, Janet L. Stein, Jane B. Lian, Andre J. van Wijnen, and Gary S. Stein. "Control of Mesenchymal Lineage Progression by MicroRNAs Targeting Skeletal Gene Regulators Trps1 and Runx2." Journal of Biological Chemistry 287, no. 26 (April 27, 2012): 21926–35. http://dx.doi.org/10.1074/jbc.m112.340398.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Jia, Ming, Jing Hu, Weiwei Li, Peng Su, Hui Zhang, Xiaofang Zhang, and Gengyin Zhou. "Trps1 is associated with the multidrug resistance of osteosarcoma by regulating MDR1 gene expression." FEBS Letters 588, no. 5 (January 31, 2014): 801–10. http://dx.doi.org/10.1016/j.febslet.2014.01.041.

Full text

APA, Harvard, Vancouver, ISO, and other styles

More sources

Dissertations / Theses on the topic "TRPS1 gene"

1

Momeni, Parastoo. "Identifizierung und Charakterisierung des menschlichen TRPS1-Gens." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=963644459.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Sharif, Naeini Reza. "Contribution of the Trpv1 gene to the physiology of supraoptic neurons." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111867.

Full text

Abstract:

The release of vasopressin (VP) from magnocellular neurosecretory cells (MNCs) of the supraoptic (SON) and paraventricular (PVN) nuclei is essential to hydromineral homeostasis. This release is controlled by several physiological stimuli, including changes in the osmotic pressure of the extracellular fluid, and in core body temperature. The osmotic control of VP release is mediated by specific and highly sensitive 'osmoreceptors'. Indeed, VP-releasing neurons in the SON are directly osmosensitive, and this osmosensitivity is mediated by stretch-inhibited cation channels. The molecular identity of these channels, however, remains unknown. The thermal control of VP release, on the other hand, is largely unexplained. In this thesis, we demonstrate that the mouse SON is a valid model for investigating the molecular basis of osmotransduction. We show that hyperosmotically-induced increases in membrane conductance are blocked by ruthenium red (RR), a non selective blocker of TRPV channels. In addition, SON neurons were found to express an N-terminal splice variant of TRPV1, but not full-length TRPV1. Unlike their wild-type counterparts, SON neurons in Trpv1 knockout (Trpv1-/-) mice could not generate RR-sensitive increases in membrane conductance and depolarizing potentials in response to hyperosmotic stimulation. Moreover, Trpv1-/-mice showed a pronounced serum hyperosmolality under basal conditions and severely compromised VP responses to osmotic stimulation in vivo. These results suggest that the Trpv1 gene may encode a central component of the osmoreceptor. Furthermore, we demonstrate that VP neurons are intrinsically thermosensitive. In these neurons, thermal stimuli spanning core body temperatures activate a RR-sensitive non selective cation current. Interestingly, VP neurons isolated from Trpv1 -/-mice are significantly less thermosensitive. These results suggest that channels encoded by the Trpv1 gene can confer thermosensitivity in the physiological range. Overall, these data suggest that products of the Trpv1 gene in VP neurons may represent a molecular point of convergence for the detection of osmotic and thermal stimuli.

APA, Harvard, Vancouver, ISO, and other styles

3

Braus, Gerhard H. Braus Gerhard H. Braus Gerhard H. Braus Gerhard H. "The TRP1 gene of Saccharomyces cerevisiae : result of a rearrangement event /." [S.l.] : [s.n.], 1987. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=8342.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Bach, Anne-Sophie. "Cathepsine D nucléaire et TRPS1 : nouveaux partenaires dans la régulation transcriptionnelle du cancer du sein." Thesis, Montpellier 1, 2013. http://www.theses.fr/2013MON1T033.

Full text

Abstract:

La cathepsine D est une aspartyl protéase lysosomale surexprimée et hypersécrétée par les cellules épithéliales cancéreuses mammaires. C'est un marqueur de mauvais pronostic du cancer du sein. Elle stimule la prolifération des cellules cancéreuses, la croissance invasive des fibroblastes et la formation des métastases. Les travaux de l'équipe ont montré qu'elle peut agir indépendamment de son activité catalytique par interaction protéique. Le répresseur transcriptionnel Tricho-Rhino-Phalangeal Syndrome type 1, TRPS1, a été identifié comme un partenaire potentiel de la cathepsine D. Différentes études indiquent que des cystéines cathepsines peuvent être localisées au noyau et être protéolytiquement actives. Par exemple, la cystéine cathepsine L agit par protéolyse limitée sur le facteur de transcription CDP/Cux et sur l'histone H3 lorsqu'elle est localisée au noyau.Dans cette thèse nous avons étudié le rôle de la cathepsine D nucléaire dans des cellules cancéreuses mammaires. Nos résultats indiquent que la cathepsine D, comme TRPS1, est localisée au noyau et est associée à la chromatine dans les cellules positives aux récepteurs aux œstrogènes. De plus elle interagit de manière directe et endogène avec TRPS1 et participe à la régulation transcriptionnelle de PTHrP (parathyroïd hormone-related protein) un gène cible de TRPS1. Finalement nous avons identifié de nouveaux gènes co-régulés par TRPS1 et la cathepsine D dans le cancer du sein montrant que leur action n'est pas limitée à PTHrP. L'ensemble de ces résultats suggère que la cathepsine D est la première cathepsine identifiée comme un co-facteur transcriptionnel et que son rôle dans le cancer pourrait impliquer, en plus de ses activités extracellulaires, ses activités nucléaires
Cathepsin D is a lysosomal aspartyl protease which is overexpressed and hyper-secreted by epithelial breast cancer cells. This is a poor prognosis factor in breast cancer. It stimulates cancer cell proliferation and metastasis formation. Team works have shown it can acts in an independent manner of its catalytic activity by protein interactions. The transcriptional repressor trichorhinophalangeal syndrome type 1 protein, TRPS1, has been identified as a new potential partner of Cathepsin D. Several studies indicate that cystein cathepsins can be localized in nucleus and are proteolytically actives. For example, the cystein Cathepsin L acts by limited proteolysis of the CDP/Cux transcription factor and histone H3 when located to the nucleus.During this thesis, we studied the role of nuclear Cathepsin D in breast cancer cells. Our results indicate that Cathepsin D, as TRPS1, is localized in nucleus and is associated with chromatin in estrogen-receptor positive breast cancer cells. Furthermore it interacts in a direct and endogenous manner with TRPS1 and participates to the transcriptional repression of PTHrP, parathyroïd hormone-related protein, a TRPS1 target gene. Finally, we identified new co-regulated genes by TRPS1 and Cathepsin D in breast cancer showing their action is not limited to PTHrP.Together, our results suggest that Cathepsin D is the first cathepsin identified as a transcriptional co-repressor and that its role in cancer may involve, in addition to its extracellular activities, its nuclear activities

APA, Harvard, Vancouver, ISO, and other styles

5

Raza, Ahsan [Verfasser], and Veit [Akademischer Betreuer] Flockerzi. "Bone microarchitecture but not bone healing is compromised by lack of the Trpc1 gene and generation of mouse strains to visualize and to delete the Trpc1 gene in a cell-specific way / Ahsan Raza ; Betreuer: Veit Flockerzi." Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2018. http://d-nb.info/1200408829/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Costa, Marcos Rodrigo Jeronimo da. "Efeito do estresse térmico no relógio biológico de Danio rerio: um elo entre temperatura , luz, canais termoTRPs e genes de relógio." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/41/41135/tde-07122016-093720/.

Full text

Abstract:

A adaptação temporal é fundamental para a sobrevivência de espécies que precisam coordenar sua fisiologia e comportamentos ajustando-se a sinais externos. Ritmos biológicos não são simplesmente uma resposta às mudanças de 24 horas no ambiente físico impostas pela rotação da Terra sobre o seu próprio eixo, ao contrário, surgem a partir de um sistema de cronometragem endógeno. No teleósteo Danio rerio, ainda não foi identificada a presença de uma região que atue como relógio central; alguns estudos têm evidenciado a existência de células e tecidos que contêm relógios circadianos autônomos, fotossensíveis, comprovando um outro tipo de regulação dos ritmos circadianos onde a percepção do ambiente e o ajuste do período circadiano são efetivados diretamente em nível celular. As consequências deletérias do aumento da temperatura são impedidas, em certa medida, por uma resposta adaptativa que assegura a sobrevivência celular na presença de calor. Esta via de sobrevivência ativada por calor, conhecida como resposta ao choque térmico, é composta por uma cascata de eventos que conduzem à indução de proteínas de choque térmico (HSPs) que minimizam a lesão celular aguda. Acredita-se que os sistemas de percepção dos ciclos diários de temperatura e luminosidade sofreram as mesmas pressões seletivas em sua co-evolução, resultando em sua associação. As bases da sensação térmica estão em um grupo de canais altamente conservados, presente em todos os metazoários estudados até o momento e envolvidos em uma série de modalidades sensoriais, os canais de potencial receptor transiente (TRP); os que respondem a estímulos térmicos foram agrupados em uma subfamília e denominados termoTRPs. O objetivo deste trabalho foi investigar a influência do pulso de temperatura (33 ºC) na expressão de genes de relógio e de proteínas de choque térmico, bem como o papel do canal TRPV1, em células embrionárias de blástula de Danio rerio, denominadas ZEM-2S, submetidas a escuro constante (DD) ou ciclos claro-escuro (LD 12:12). Através de PCR em tempo real (quantitativo) demonstrou-se que as células ZEM-2S expressam os genes dos seguintes canais TRP: trpA1a, trpA1b, trpV1/2, trpV4, trpC6, trpM2, trpM4a, trpM4b/c e trpM5. Após um pulso de temperatura, observou-se um aumento no transcrito de hsp90 aa1 em células mantidas tanto em DD como em LD, sendo a expressão de hsp90 aa1 em LD, no ponto uma hora, duas vezes menor quando comparada a sua expressão no mesmo ponto temporal em DD. O pulso de temperatura não promoveu efeito em nenhum dos genes do relógio estudados (bmal1a, bmal1, bmal2, cry1a, cry1b, per1, per2) quando as células foram mantidas em DD. Porém, o transcrito de per2 aumentou em resposta ao pulso de temperatura quando as células foram sincronizadas pelos ciclos claro-escuro. A inibição do canal TRPV1 não alterou o efeito induzido pelo pulso de temperatura na expressão do gene hsp90 aa1 em células ZEM-2S mantidas em DD. Por outro lado, nossos dados permitem afirmar que o mesmo participa parcialmente na indução do aumento da expressão do gene per2 pelo estímulo térmico em células mantidas em LD, tendo em vista um decaimento significativo na resposta deste gene. Os dados obtidos neste trabalho abrem uma nova perspectiva sobre a investigação da relação temperatura e genes de relógio, colocando um novo “ator” na regulação deste fenômeno: o canal TRPV1
Temporal adaptation is essential for the survival of species which need to coordinately adjust their physiology and behavior to external signals. Biological rhythms are not just a response to the 24 hour changes in the physical environment imposed by the rotation of the Earth around its own axis, but they arise from an endogenous timing system. In the teleost Danio rerio, there has not been identified so far a region in the nervous system that could act as a central clock; some studies have reported the existence of cells and tissues which contain photosensitive, autonomous circadian clocks, demonstrating the existence of another type of circadian rhythm regulation in which environment perception and entrainment of the circadian period are directly effected at cell level. The deleterious consequences of temperature increase are prevented by an adaptive response which assures cell survival in the presence of heat. This survival pathway activated by heat, known as response to temperature shock, is signaled by a cascade of events leading to the induction of thermal shock proteins (HSPs) which attenuate the acute cell lesion. It is believed that the systems perceiving temperature and light daily cycles were subject to the same selective pressures during their co-evolution, resulting in their association. The base of thermal sensation is a family of highly conserved channels, present in all metazoans studied to date, and involved in a variety of sensorial modalities, the transient receptor potential channels (TRP); those responding to thermal stimuli were grouped in a sub-family named thermo-TRPs. The aim of this work was to investigate the influence of a temperature pulse (33 ºC) on the expression of clock and heat shock protein genes, as well as the role of TRPV1 channel, in blastula embryonic cells of Danio rerio, named ZEM-2S, subject to constant dark (DD) or light-dark cycles (LD). Using quantitative PCR, we demonstrated that ZEM-2S cells express genes for the following TRP channels: trpA1a, trpA1b, trpV1/2, trpV4, trpC6, trpM2, trpM4a, trpM4b/c and trpM5. After the pulse of temperature, we observed an increase of hsp90 aa1 transcripts in DD as well as in LD; hsp90 aa1 expression 1 hour after the stimulus was two-fold lower in LD than in DD. Temperature pulse did not affect the expression of any of the studied clock genes (bmal1a, bmal1, bmal2, cry1a, cry1b, per1, per2), when the cells were kept in DD. However, per2 transcript increased in response to the temperature pulse when the cells were synchronized by light-dark cycles. Inhibition of TRPV1 channel did not change the effect induced by the temperature pulse on hsp90 aa1 in ZEM-2S cells kept in DD. On the other hand, our data suggest that this channel participates, at least partially, in the temperature-induced increase of per2 in cells maintained in LD, as indicated by the significant decay observed in the gene response in the presence of the inhibitor. Our results open new investigative perspective about the relationship between temperature and clock genes, placing a new “actor” in the regulation of the phenomenon: the TRPV1 channel

APA, Harvard, Vancouver, ISO, and other styles

7

Klugerová, Michaela. "Molekulárně genetická analýza chromozomální oblasti 8q24 u pacientů s trichorhinofalangeálním syndromem nebo izolovanými exostózami." Master's thesis, 2015. http://www.nusl.cz/ntk/nusl-331095.

Full text

Abstract:

Trichorhinophalangeal syndrome is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. We distinguish free subtypes on clinical and molecular level - TRPS I, TRPS II, TRPS III. All TRPS patients have sparse hair, a pear-shaped nose, a long flat philtrum, a thin upper lip and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature are present. The subgroups TRPS I and TRPS III are result of the mutated TRPS1 gene, which is maped into the 8q24 region. This gene is situated proximal of the EXT1 gene, both genes are affected in a subgroup of patients with TRPS II. These patients suffer more from multiple (cartilaginous) exostoses and mental retardation. In this work we performed molecular genetic analysis of a sample of 16 patients, 8 probands showed a TRPS phenotype and 8 probands had only isolated exostoses. The peripheral venous blood of patients was used to gain purified DNA, which was subsequently used to investigate the chromosome 8q24 region using MLPA ("multiplex ligation-dependent probe amplification"). This analysis revealed a deletion in 1 TRPS patient and 1 patient with exostoses. Sequencing of the TRPS1 gene coding exons in remaining 7 TRPS...

APA, Harvard, Vancouver, ISO, and other styles

8

Momeni, Parastoo [Verfasser]. "Identifizierung und Charakterisierung des menschlichen TRPS1-Gens / vorgelegt von Parastoo Momeni." 2001. http://d-nb.info/963644459/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Brega, Paola [Verfasser]. "Identification of downstream genes of the TRPS1 transcription factor / by Paola Brega." 2005. http://d-nb.info/978008502/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Chen, Ji-Lin, and 陳紀琳. "The Roles of Notch1-upregulated Gene TRPA1 in Human Erythroleukemia Cells." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/399zc8.

Full text

Abstract:

博士
國立陽明大學
藥理學研究所
105
Notch1 signaling involves in several physiological and pathological cellular processes, including proliferation, apoptosis, stem cell maintenance and regulation of erythroid and megakaryocyte differentiation. Notch1 intracellular domain (N1IC), the activated form of Notch1, induced TRPA1 expression. TRPA1 is a non-selective calcium channel. Inflammatory cytokines enhance TRPA1 expression, and TRPA1 activation induces neurotransmitter release. Inflammatory cytokines suppress erythroid differentiation and result in anemia. The roles of TRPA1 in erythroid/megakaryocyte differentiation are poorly understood. Herein, the data indicated that N1IC activated TRPA1 promoter in a CBF1-independent manner. N1IC enhanced TRPA1 promoter activity via Ets-1, and both of them bound to TRPA1 promoter. N1IC modulated TRPA1 promoter depend on promoter methylation, and N1IC and Ets-1 inhibited DNA methyltransferase 3B (DNMT3B) expression synergistically. TRPA1 decreased hemin-induced erythroid differentiation of K562 and HEL cells. TRPA1 agonist AITC suppressed erythroid differentiation and increased phosphorylation of ERK in K562 and HEL cells, which were reversed by TRPA1 antagonist or EGTA pretreatment. TRPA1 mediated N1IC- or Ets-1- restrained erythroid differentiation. TRPA1 improved PMA-induced megakaryocyte differentiation, and the levels of megakaryocytic markers were increased. Notch1 receptor or Ets-1 knockdown reduced me megakaryocyte differentiation, which could be restored by TRPA1 expression. Knockdown of DNMT3B increased TRPA1 level, inhibited erythroid differentiation as well as promoted megakaryocyte differentiation. Moreover, TRPA1 inhibition enhanced migration, invasion and colony forming abilities of K562 cells. These results demonstrate that N1IC-induced TRPA1 play a critical role in the regulation of erythroid and megakaryocyte differentiation.

APA, Harvard, Vancouver, ISO, and other styles

More sources

Books on the topic "TRPS1 gene"

1

Chow, King-Chuen. Isolation and characterization of the tryptophanyl-tRNA synthetase gene (trpS) from "Bacillus subtilis". 1989.

Find full text

APA, Harvard, Vancouver, ISO, and other styles

2

MacGregor, Alex, Ana Valdes, and Frances M. K. Williams. Genetics of osteoarthritis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0044.

Full text

Abstract:

In this chapter we outline the approaches which have been adopted to identify genetic variants predisposing to osteoarthritis (OA), a condition long recognized as having a heritable component. Such routes to their identification include examining mendelian traits in which OA is a feature, candidate gene studies based on knowledge of OA pathobiology, linkage analysis in related individuals, and, more recently, genome-wide association studies in large samples of unrelated individuals. It is increasingly evident that the main symptom deriving from OA—notably joint pain—also has a genetic basis but this is differs from that underlying OA. Variants convincingly shown to predispose to OA lie in the GDF5 and MCF2L genes and in the chr7 cluster mapping to the COG5 gene, in addition to the ASPN gene in Asian populations. Those associated with pain in OA include TRPV1 and PACE4. Epigenetic influences are also being explored in both the pathogenesis of OA and the variation of pain processing.

APA, Harvard, Vancouver, ISO, and other styles

Book chapters on the topic "TRPS1 gene"

1

MacGregor, Alex, Ana Valdes, and Frances M. K. Williams. "Genetics of osteoarthritis." In Oxford Textbook of Rheumatology, 331–35. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0044_update_001.

Full text

Abstract:

In this chapter we outline the approaches which have been adopted to identify genetic variants predisposing to osteoarthritis (OA), a condition long recognized as having a heritable component. Such routes to their identification include examining mendelian traits in which OA is a feature, candidate gene studies based on knowledge of OA pathobiology, linkage analysis in related individuals, and, more recently, genome-wide association studies in large samples of unrelated individuals. It is increasingly evident that the main symptom deriving from OA—notably joint pain—also has a genetic basis but this is differs from that underlying OA. Variants convincingly shown to predispose to OA lie in the GDF5 and MCF2L genes and in the chr7 cluster mapping to the COG5 gene, in addition to the ASPN gene in Asian populations. Those associated with pain in OA include TRPV1 and PACE4. Epigenetic influences are also being explored in both the pathogenesis of OA and the variation of pain processing.

APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "TRPS1 gene"

1

Guzman, Liliana, Jessica Bronstad, Roberto Rangel, Roberto R. Rosato, Wei Qian, Jianying Zhou, and Jenny C. Chang. "Abstract PS17-30: Trps1 disrupts angiogenesis in triple negative breast cancer by down regulating genes involved in angiogenesis pathways." In Abstracts: 2020 San Antonio Breast Cancer Virtual Symposium; December 8-11, 2020; San Antonio, Texas. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.sabcs20-ps17-30.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Maestrelli, P., F. Liviero, M. Campisi, and S. Pavanello. "Multiple Single Nucleotide Polymorphisms (SNPs) of the Transient Receptor Potential Vanilloid 1 (TRPV1) Genes Are Associated with Cough Response to Capsaicin in Healthy Subjects." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a7434.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!