Tuberous sclerosis

Yates, John R.

doi:10.1038/sj.ejhg.5201625

Cited by 107 publications

(115 citation statements)

References 48 publications

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“…Although the incidence is consistent with sporadic forms of RCC, they develop at a young age -28 years of age on average 45 . Most frequent is ccRCC but chromophobe RCC, papillary RCC and oncocytomas were also reported 46 .…”

Section: Tuberous Sclerosis (Ts)mentioning

confidence: 55%

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Azeem¹,

Kollárová²,

Horáková³

et al. 2011

BIOMED PAP

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Section: Tuberous Sclerosis (Ts)mentioning

confidence: 55%

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Azeem¹,

Kollárová²,

Horáková³

et al. 2011

BIOMED PAP

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“…Some of TSC manifestations have been subjected to drug therapies but they are still in the developmental stage (Yates et al, 2006). Table 5 summarized several drugs under investigation for their efficacy towards Tuberous Sclerosis Complex.…”

Section: Studies On Therapeutics Options For Tscmentioning

confidence: 99%

Tuberous Sclerosis Complex

Haryo¹,

Malik²,

Ismail³

et al. 2011

Novel Aspects on Epilepsy

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“…Tuberous sclerosis (TSC) may present with autism-like symptoms when mutations in a TSC gene cause benign tumors in the brain [34]. There are abnormalities of cerebellum in many children with tuberous sclerosis [35].…”

Section: Introductionmentioning

confidence: 99%

“…For, there is a positive correlation between cerebellar pathology and ASD either [36]. Mamalian target of rapamycin (mTOR) is inhibited by hamartin and tuberin, which are the protein products of TSC1 and TSC2 [34]. It is reported that mice expressing mutant TSC1 specifically in cerebellar Purkinhe cells, displayed autism-like behaviours [37].…”

Section: Introductionmentioning

confidence: 99%

Animal Models of Autism Spectrum Disorder

Erdoğan¹

2017

JNSK

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Animal models are developed to test hypotheses about causes of disease, and potential treatments. With genetic, molecular, imaging and electrophysiological studies being supported by animal models, autism research has been flourishing in recent years. On different aspects of autism research, a significant number of reviews have been published. Several of them treated animal models to help current knowledge around its etiology while some others had standpoint of species or neuroanatomical findings. In this article, we present an overview of the animal models.Keywords: Autism spectrum disorder; Animal models most widely used animal in neuroscience [1]. Mouse models have also been used often by the neuroscience community. As compared to mice, rats promise more advantages; with richer social behavioural repertoire, they show various types of social behaviours and use a rich communication system [2]. Surgical experiments, histopathological evaluation, electrophysiological recordings are easier in rats by reason of their larger size. Furthermore, they have the capability of being the major objects of pharmaceutical industry in testing drug efficacy, dosage and toxicology. However animal models on genetic alterations were defined in mice so far.Recently different animals like the zebrafish (Danio Rerio) has also become a popular model organism in neuroscience to study ASD. It seems to be a strong model organism due to representation of highly social animals and looks promising for complementing traditional rodent models [3]. Because of the capacity of vocal learning, songbird animal model was supposed to contribute important insights to our understanding of the communication deficits in ASD [4]. Besides social features, they display characteristically human traits like monogamy and cultural inheritance. Due to its high degree of correspondence to human behavior and their striking homology in the anatomy of neural circuits that mediate social behavior, non-human primate (NHP) model is largely believed to help bridge the gap between humans and lower vertebrate systems [5]. Use of NHP model has the advantages of contributing to some more behavioral aspects of ASD research. However, ethical implications of NHP research and the absence of genetic knockouts in NHP models tend to pose limitations [6]. Surprisingly, a fruit fly, Drosophila and a sea hare, Aplysia and a nematode, C. elegans provide the potential of carrying out large scale screens using the sophisticated genetic tools available despite being millions of years apart on the evolutionary scale. They are likely to facilitate the dissection of the genetic basis of ASD [6].According to a common hypothesis, ASD results from the interaction of a genetic predisposition and an early environmental insult [7]. We have chosen to focus on methodology in conducting the animal models for ASD. Therefore, we thought that it would be efficacious to reveal keypoints by following the mechanisms set up in animal models. Genetically Manipulated Animal ModelsNumerous candidate...

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Tuberous sclerosis

Cited by 107 publications

References 48 publications

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Genetic Syndromes Associated With Renal Cell Carcinoma - A Review

Tuberous Sclerosis Complex

Animal Models of Autism Spectrum Disorder

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