(Q37223263)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

Izabela Malinowska-Kołodziej

25 January 2020

object named as

Izabela Malinowska-Kolodziej

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Kristen Pollizzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Cheryl Doughty

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Jian Ma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

David J Kwiatkowski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

publication date

8 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

2378-2387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth

25 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

The TSC1-TSC2 complex is required for proper activation of mTOR complex 2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Lymphangioleiomyomatosis: a clinical update.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Tuberous sclerosis complex and epilepsy: recent developments and future challenges

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

The tuberous sclerosis complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Prolonged rapamycin treatment inhibits mTORC2 assembly and Akt/PKB

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Dosage-dependent effects of Akt1/protein kinase Balpha (PKBalpha) and Akt3/PKBgamma on thymus, skin, and cardiovascular and nervous system development in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

6 September 2017

Renal angiomyolipomata.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Molecular genetic advances in tuberous sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Biphasic response of pancreatic beta-cell mass to ablation of tuberous sclerosis complex 2 in mice

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Generation of a conditional disruption of the Tsc2 gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Inappropriate activation of the TSC/Rheb/mTOR/S6K cassette induces IRS1/2 depletion, insulin resistance, and cell survival deficiencies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

Early expression of endomucin on endothelium of the mouse embryo and on putative hematopoietic clusters in the dorsal aorta

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694688

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19357198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19357198

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDP176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

19357198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19357198%20AND%20SRC:MED&resulttype=core&format=json