| References |
|
|
Au KS,
Hebert AA,
Roach ES et al.
(1999)
Complete inactivation of the TSC2 gene leads to formation of hamartomas.
American Journal of Human Genetics
65(6):
1790–1795.
|
|
|
Bader RS,
Chitayat D,
Kelly E et al.
(2003)
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.
Journal of Pediatrics
143(5):
620–624.
|
|
|
Bissler JJ,
McCormack FX,
Young LR et al.
(2008)
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.
New England Journal of Medicine
358(2):
140–151.
|
|
|
Brook‐Carter PT,
Peral B,
Ward CJ et al.
(1994)
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease – a contiguous gene syndrome.
Nature Genetics
8(4):
328.
|
|
|
Costello LC,
Hartman TE and
Ryu JH
(2000)
High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex.
Mayo Clinic Proceedings
75(6):
591–594.
|
|
|
Crino PB,
Nathanson KL and
Henske EP
(2006)
The tuberous sclerosis complex.
New England Journal of Medicine
355(13):
1345–1356.
|
|
|
Dabora SL,
Jozwiak S,
Franz DN et al.
(2001)
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 compared with TSC1 disease in multiple organs.
American Journal of Human Genetics
68(1):
64–80.
|
|
|
Davies DM,
de Vries PJ,
Johnson SR et al.
(2011)
Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial.
Clinical Cancer Research
17(12):
4071–4081.
|
|
|
European Chromosome 16 Tuberous Sclerosis Consortium
(1993)
Identification and characterisation of the tuberous sclerosis gene on chromosome 16.
Cell
75(7):
1305–1315.
|
|
|
Guinee D,
Singh R,
Azumi N et al.
(1995)
Multifocal micronodular pneumocyte hyperplasia: a distinctive pulmonary manifestation of tuberous sclerosis.
Modern Pathology
8(9):
902–906.
|
|
|
Huang J and
Manning BD
(2008)
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth.
Biochemical Journal
412(2):
179.
|
|
|
Inoki K,
Zhu T and
Guan KL
(2003)
TSC2 mediates cellular energy response to control cell growth and survival.
Cell
115(5):
577.
|
|
|
Johnson SR
(2006)
Lymphangioleiomyomatosis.
European Respiratory Journal
27(5):
1056–1065.
|
|
|
Joinson C,
O'Callaghan FJ,
Osborne JP et al.
(2003)
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex.
Psychological Medicine
33(2):
335–344.
|
|
|
Jones AC,
Daniells CE,
Snell RG et al.
(1997)
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Human Molecular Genetics
6:
2155–2161.
|
|
|
Karbowniczek M,
Cash T,
Cheung M et al.
(2004)
Regulation of B‐Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)‐independent.
Journal of Biological Chemistry
279(29):
29930–29937.
|
|
|
Krueger DA,
Care MM,
Holland K et al.
(2010)
Everolimus for sub‐ependymal giant cellastrocytomas in tuberous sclerosis.
New England Journal of Medicine
363:
1801–1811.
|
|
|
Li Y,
Wang Y,
Kim E et al.
(2007)
Bnip3 mediates the hypoxia‐induced inhibition on mammalian target of rapamycin by interacting with Rheb.
Journal of Biological Chemistry
282(49):
35803–35813.
|
|
|
Maheshwar MM,
Cheadle JP,
Jones AC et al.
(1997)
The GAP‐related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
Human Molecular Genetics
6(11):
1991–1996.
|
|
|
Messina MP,
Rauktys A,
Lee L et al.
(2007)
Tuberous sclerosis preclinical studies: timing of treatment, combination of a rapamycin analog (CCI‐779) and interferon‐gamma, and comparison of rapamycin to CCI‐779.
BMC Pharmacology
7:
14.
|
|
|
Mozaffari M,
Hoogeveen‐Westerveld M,
Kwiatkowski D et al.
(2009)
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
BMC Medical Genetics
11:
10–88.
|
|
|
Nellist M,
Sancak O,
Goedbloed MA et al.
(2005)
Distinct effects of single amino acid changes to tuberin on the function of the tuberin–hamartin complex.
European Journal of Human Genetics
13:
59–68.
|
|
|
Nellist M,
van den Heuvel D,
Schluep D et al.
(2009)
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
European Journal of Human Genetics
17(3):
319–328.
|
|
|
Osborne JP,
Fryer A and
Webb D
(1991)
Epidemiology of tuberous sclerosis.
Annals of the New York Academy of Sciences
615:
125–127.
|
|
|
Roach ES,
Gomez MR and
Northrup H
(1998)
Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.
Journal of Child Neurology
13(12):
624–628.
|
|
|
Rowley SA,
O'Callaghan FJ and
Osborne JP
(2001)
Ophthalmic manifestations of tuberous sclerosis: a population based study.
British Journal of Ophthalmology
85(4):
420–423.
|
|
|
Sampson JR,
Maheshwar MM,
Aspinwall R et al.
(1997)
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
American Journal of Human Genetics
61:
843–853.
|
|
|
Tee AR and
Blenis J
(2005)
mTOR, translational control and human disease.
Seminars in Cell and Developmental Biology
16(1):
29–37.
|
|
|
Tee AR,
Fingar DC,
Manning BD et al.
(2002)
Tuberous sclerosis complex‐1 and ‐2 gene products function together to inhibit mammalian target of rapamycin (mTOR)‐mediated downstream signaling.
Proceedings of the National Academy of Sciences of the USA
99(21):
13571–13576.
|
|
|
Tee AR,
Manning BD,
Roux PP et al.
(2003)
Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase‐activating protein complex toward Rheb.
Current Biology
13(15):
1259–1268.
|
|
|
TSC1 Consortium
(1997)
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science
277:
805–808.
|
|
|
de Vries PJ and
Howe CJ
(2007)
The tuberous sclerosis complex proteins – a GRIPP on cognition and neurodevelopment.
Trends in Molecular Medicine
13(8):
319–326.
|
|
|
Wentink M,
Nellist M,
Hoogeveen‐Westerveld M et al.
(2011)
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds.
Clinical Genetics. doi: 10.1111/j.1399‐0004.2011.01648.x
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| Further Reading |
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ePath Gene reviews: Tuberous Sclerosis Complex http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tuberous‐sclerosis
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ePath Online Mendelian Inheritance in Man TSC1 http://www.ncbi.nlm.nih.gov/omim/605284
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ePath Online Mendelian Inheritance in Man TSC2 http://www.ncbi.nlm.nih.gov/omim/191092
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