Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23963
Abstract: The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC,… read more here.
Keywords: functional structural; tsc2 variants; tsc; tsc1 tsc2 ... See more keywords
Radiobiological Characterization of Tuberous Sclerosis: a Delay in the Nucleo-Shuttling of ATM May Be Responsible for Radiosensitivity
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Neurobiology"
DOI: 10.1007/s12035-017-0648-6
Abstract: The tuberous sclerosis complex (TSC) syndrome is associated with numerous cutaneous pathologies (notably on the face), epilepsy, intellectual disability and developmental retardation and, overall, high occurrence of benign tumors in several organs, like angiofibromas, giant… read more here.
Keywords: radiosensitivity; nucleo shuttling; tuberous sclerosis; delay ... See more keywords
A multistep approach to the genotype-phenotype analysis of polish patients with tuberous sclerosis complex.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104309
Abstract: The aim of this study was to evaluate a cost-effective diagnostic strategy for identification of casual variants for tuberous sclerosis complex (TSC) in the Polish population and to correlate the genetic results with selected phenotypic… read more here.
Keywords: tuberous sclerosis; multistep; multistep approach; sclerosis complex ... See more keywords
A Woman With “Polycystic Kidney Disease”
Sign Up to like & getrecommendations! Published in 2020 at "Kidney International Reports"
DOI: 10.1016/j.ekir.2020.05.026
Abstract: INTRODUCTION P olycystic kidney disease (PKD) is a hereditary disease that is usually caused by PKD1 or PKD2 pathogenic mutation and that can be divided into 2 types by heredity. When symptoms present neonatally, the… read more here.
Keywords: pkd; disease; polycystic kidney; tsc ... See more keywords
Changes in vascular density in resected tissue of 97 patients with mild malformation of cortical development, focal cortical dysplasia or TSC-related cortical tubers
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Developmental Neuroscience"
DOI: 10.1016/j.ijdevneu.2019.11.003
Abstract: Recent studies suggested a possible association between malformations of cortical development and microvascular density. In this study we aimed to further elucidate the relation between microvascular density and cortical developmental abnormalities in a cohort of… read more here.
Keywords: cortical development; density; tsc; vascular density ... See more keywords
Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review.
Sign Up to like & getrecommendations! Published in 2019 at "Revue neurologique"
DOI: 10.1016/j.neurol.2018.11.002
Abstract: Medically treated patients suffering from tuberous sclerosis complex (TSC) have less than 30% chance of achieving a sustained remission. Both the international TSC consensus conference in 2012, and the panel of European experts in 2012… read more here.
Keywords: tuberous sclerosis; surgery; sclerosis complex; tsc patients ... See more keywords
Desmoplastic fibroma associated with tuberous sclerosis: case report and literature review.
Sign Up to like & getrecommendations! Published in 2019 at "Oral surgery, oral medicine, oral pathology and oral radiology"
DOI: 10.1016/j.oooo.2019.03.008
Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that affects the skin, brain, kidneys, and other organ systems. It may exhibit a wide spectrum of clinical manifestations. Desmoplastic fibroma (DF) of the jaw… read more here.
Keywords: literature; case; tuberous sclerosis; tsc ... See more keywords
Choice of factors and medium impinge on success of ESC to TSC conversion.
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DOI: 10.1016/j.placenta.2019.12.017
Abstract: INTRODUCTION The first lineage separation in mammalian development occurs when totipotent cells of the zygote give rise to the inner cell mass and the trophectoderm. The lineages are strictly separated by an epigenetic barrier. In… read more here.
Keywords: esc tsc; tsc conversion; esc; tsc ... See more keywords
Synthesis, structure, and cytotoxicity of complexes of zinc(II), palladium(II), and copper(I) chlorides with (−)-camphor thiosemicarbazone
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DOI: 10.1016/j.poly.2019.02.020
Abstract: Abstract Complexes [Zn(L2)2Cl2], [Pd2(L2)2Cl4], and CuL2Cl, where L2 is (−)-camphor thiosemicarbazone, were synthesized. The structures of complexes [Zn(L2)2Cl2] and [Pd2(L2)2Cl4] were determined by X-ray diffraction. The crystal structure of complex [Zn(L2)2Cl2] contains mononuclear molecules with… read more here.
Keywords: structure cytotoxicity; synthesis structure; structure; pd2 2cl4 ... See more keywords
Thiosemicarbazide-grafted graphene oxide as superior adsorbent for highly efficient and selective removal of mercury ions from water
Sign Up to like & getrecommendations! Published in 2021 at "Separation and Purification Technology"
DOI: 10.1016/j.seppur.2020.117606
Abstract: Abstract In this work, the superior nanoadsorbent (GO-TSC) for highly effective adsorption of mercury ions from water solutions was developed, by grafting the thiosemicarbazide molecules (TSC) to the graphene oxide (GO) nanosheets. GO-TSC combines the… read more here.
Keywords: graphene oxide; adsorption; ions water; tsc ... See more keywords
Re: Kapoor et al.: Evolving Strategies in the Treatment of Tuberous Sclerosis Complex-associated Angiomyolipomas (TSC-AML) (Urology 2016;89:19-26).
Sign Up to like & getrecommendations! Published in 2017 at "Urology"
DOI: 10.1016/j.urology.2016.09.049
Abstract: We read with great interest the article by Kapoor et al, “Evolving Strategies in the Treatment of Tuberous Sclerosis Complex-associated Angiomyolipomas (TSCAML),” providing valuable information on localized and systemic therapy in the management of TSC-AML.… read more here.
Keywords: tuberous sclerosis; kapoor evolving; sclerosis complex; tsc ... See more keywords