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0037243291
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The molecular genetics of the genodermatoses: Progress to date and future directions
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Irvine AD, McLean WH: The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol 2003, 148:1-13. This is a relatively recent, very comprehensive overview of the field, which categorizes all the genodermatoses, reviews basic genetic concepts and inheritance patterns, and discusses the future of the field.
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Br J Dermatol
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Irvine, A.D.1
McLean, W.H.2
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1842610572
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Recent advances in neurofibromatosis type 1
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Arun D, Gutmann DH: Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004, 17:101-105. This is a comprehensive overview of a large subject from both basic science and clinical perspectives.
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Curr Opin Neurol
, vol.17
, pp. 101-105
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Arun, D.1
Gutmann, D.H.2
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0036159132
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Neurofibromin regulates G protein-stimulated adenylyl cyclase activity
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Tong J, Hanna F, Zhu Y, et al.: Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci 2003, 5:95-96.
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Nat Neurosci
, vol.5
, pp. 95-96
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Tong, J.1
Hanna, F.2
Zhu, Y.3
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4
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0141529951
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The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes
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Dasgupta B, Dugan LL, Gutmann DH: The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. J Neurosci 2003, 23:8949-8954.
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J Neurosci
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Dasgupta, B.1
Dugan, L.L.2
Gutmann, D.H.3
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5
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2342570393
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Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients
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Frahm S, Mautner VR, Brems H, et al.: Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis 2004, 16:85-91. This article notes specific characteristics that help to distinguish malignant from benign tumors in NF1.
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Neurobiol Dis
, vol.16
, pp. 85-91
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Frahm, S.1
Mautner, V.R.2
Brems, H.3
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6
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0742324551
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Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors
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Berl
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Holtkamp N, Mautner VF, Friedrich RE, et al.: Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. Acta Neuropathol (Berl) 2004, 107:159-168. The profile of expressed genes in malignant tumors is studied by use of suppression-subtractive hybridization. Identification of differentially expressed genes is potentially helpful in diagnosis, understanding the biology of tumor formation, and the development of directed therapeutic approaches.
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(2004)
Acta Neuropathol
, vol.107
, pp. 159-168
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Holtkamp, N.1
Mautner, V.F.2
Friedrich, R.E.3
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7
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2542524778
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Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: Identification of a gene expression signature of poor prognosis
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Lévy P, Vidaud D, Leroy K, et al.: Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis. Clin Cancer Res 2004, 10:3763-3771. This paper reports that reverse-transcription polymerase chain reaction is potentially useful for detecting genetic markers that confer increased risk for malignant transformation within preexisting benign plexiform neurofibromas.
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(2004)
Clin Cancer Res
, vol.10
, pp. 3763-3771
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Lévy, P.1
Vidaud, D.2
Leroy, K.3
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8
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Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors
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Kluwe L, Friedrich RE, Peiper M, et al.: Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. Hum Mutat 2003, 22:420. This report concludes that the nature of the underlying constitutional NF1 mutation may affect the risk of malignancy, which may be particularly high in patients with gene deletions.
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(2003)
Hum Mutat
, vol.22
, pp. 420
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Kluwe, L.1
Friedrich, R.E.2
Peiper, M.3
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9
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1042299966
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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
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Kluwe L, Siebert R, Gesk S, et al.: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004, 23:111-116.
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(2004)
Hum Mutat
, vol.23
, pp. 111-116
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Kluwe, L.1
Siebert, R.2
Gesk, S.3
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10
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0034081412
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Exhaustive mutation analysis of the NF1 gene allows identification of 95[ref] of mutations and reveals a high frequency of unusual splicing defects
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Messiaen LM, Callens T, Mortier G, et al.: Exhaustive mutation analysis of the NF1 gene allows identification of 95[ref] of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000, 15:541-555.
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(2000)
Hum Mutat
, vol.15
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Messiaen, L.M.1
Callens, T.2
Mortier, G.3
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11
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2342489407
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Automated comparative sequence analysis identifies mutations in 89[ref] of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain
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Mattocks C, Baralle D, Tarpey P, et al.: Automated comparative sequence analysis identifies mutations in 89[ref] of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J Med Genet 2004, 41:e48. The authors describe the results of a promising new technique that may significantly affect the way mutation screening is performed for NF1.
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(2004)
J Med Genet
, vol.41
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Mattocks, C.1
Baralle, D.2
Tarpey, P.3
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12
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2542450302
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Knowledge without truth: Screening for complications of neurofibromatosis type 1 in childhood
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Listernick R, Charrow J: Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood. Am J Med Genet 2004, 127A:221-223. This article reviews screening techniques for optic pathway tumors and other malignant complications of NF1, acknowledging the numerous controversies yet to be resolved in the management of this disease.
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(2004)
Am J Med Genet
, vol.127 A
, pp. 221-223
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Listernick, R.1
Charrow, J.2
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13
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1442275007
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Neurofibromatosis type 1 and optic pathway gliomas: Follow-up of 54 patients
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Thiagalingam S, Flaherty M, Billson F, et al.: Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology 2004, 111:568-577. This is a very thorough clinical long-term study that raises additional questions about the management of optic pathway tumors in NF1.
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(2004)
Ophthalmology
, vol.111
, pp. 568-577
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Thiagalingam, S.1
Flaherty, M.2
Billson, F.3
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14
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0031044804
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Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the NF1 Optic Pathway Glioma Task Force
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Listernick R, Louis DN, Packer RJ, et al.: Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol 1997, 41:143-149.
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(1997)
Ann Neurol
, vol.41
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Listernick, R.1
Louis, D.N.2
Packer, R.J.3
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15
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Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
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King A, Listernick R, Charrow J, et al.: Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet 2003, 122A:95-99.
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Am J Med Genet
, vol.122 A
, pp. 95-99
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King, A.1
Listernick, R.2
Charrow, J.3
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16
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2542445609
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Outcomes of systematic screening for optic pathway tumors in children with neurofibromatosis type 1
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Blazo MA, Lewis RA, Chintagumpala MM, et al.: Outcomes of systematic screening for optic pathway tumors in children with neurofibromatosis type 1. Am J Med Genet 2004, 127A:224-229. The article presents evidence that early routine neuroimaging for optic pathway tumors, even in patients without signs or symptoms, should be reconsidered. Patients may also have relatively late complications of these tumors.
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Am J Med Genet
, vol.127 A
, pp. 224-229
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Blazo, M.A.1
Lewis, R.A.2
Chintagumpala, M.M.3
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17
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0347716759
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Rheb fills a GAP between TSC and TOR
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Manning BD, Cantley LC: Rheb fills a GAP between TSC and TOR. Trends Biochem Sci 2003, 28:573-575. This is an excellent review of recent breakthroughs in the molecular biologic pathway that underlies tuberous sclerosis. The localization of the tuberin-hamartin protein complex within a cascade of other proteins that regulate cellular proliferation may lead to directed pharmacologic treatment of tuberous sclerosis complex.
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(2003)
Trends Biochem Sci
, vol.28
, pp. 573-575
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Manning, B.D.1
Cantley, L.C.2
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18
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0442323560
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Tuberous sclerosis complex: From Drosophila to human disease
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Pan D, Dong J, Zhang Y, et al.: Tuberous sclerosis complex: from Drosophila to human disease. Trends Cell Biol 2004, 14:78-85. This is a comprehensive overview of the interacting signaling pathways of the TSC system.
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(2004)
Trends Cell Biol
, vol.14
, pp. 78-85
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Pan, D.1
Dong, J.2
Zhang, Y.3
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19
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0041356888
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Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 Kinase activation in a rapamycin- and farnesylation-dependent manner
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Castro AR, Rebhun JF, Clark GJ, et al.: Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 Kinase activation in a rapamycin- and farnesylation-dependent manner. J Biol Chem 2003, 278:32493-32496. This is a key paper that links loss of TSC2 GAP activity to clinical disease and explores the effects of deficient TSC2 on other signaling molecules, including Rheb-GTP and mTOR.
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(2003)
J Biol Chem
, vol.278
, pp. 32493-32496
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Castro, A.R.1
Rebhun, J.F.2
Clark, G.J.3
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20
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0042701991
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Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
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Tee AR, Manning BD, Aroux PP, et al.: Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 2003, 13:1259-1268. This article links clinical mutations within the GAP domain of tuberin and defects in GAP activity toward Rheb. It also confirms the placement of Rheb within the signaling pathway in a position immediately downstream of TSC1/TSC2 and upstream of TOR.
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(2003)
Curr Biol
, vol.13
, pp. 1259-1268
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Tee, A.R.1
Manning, B.D.2
Aroux, P.P.3
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21
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TSC2: Filling the GAP in the mTOR signaling pathway
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Li Y, Corradetti MN, Inoki K, et al.: TSC2: filling the GAP in the mTOR signaling pathway. Trends Biol Sc 2004, 29:32-38. The authors review evidence that TSC2 (of the two components of the TSC1/TSC2 complex) is the more precise site of the GAP regulatory activity for Rheb.
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(2004)
Trends Biol Sc
, vol.29
, pp. 32-38
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Li, Y.1
Corradetti, M.N.2
Inoki, K.3
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22
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0142011466
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PTEN: From pathology to biology
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Sulis ML, Parsons R: PTEN: from pathology to biology. Trends Cell Biol 2003, 13:478-483. This good review article connects PTEN and the TSC genes within the signaling pathway.
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(2003)
Trends Cell Biol
, vol.13
, pp. 478-483
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Sulis, M.L.1
Parsons, R.2
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23
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0041920901
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TSC2 regulates VEGF through mTOR-dependent and -independent pathways
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Brugarolas JB, Vazques F, Reddy A, et al.: TSC2 regulates VEGF through mTOR-dependent and -independent pathways. Cancer Cell 2003, 4:147-158. This is an excellent review of the influence of TSC2 on angiogenesis, a contributing factor in tumorigenesis. Possible pharmacologic interventions to treat TSC are suggested.
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(2003)
Cancer Cell
, vol.4
, pp. 147-158
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Brugarolas, J.B.1
Vazques, F.2
Reddy, A.3
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0035167932
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
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Dabora SL, Jozwiak S, Franz DN, et al.: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001, 68:64-80.
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(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
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Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
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25
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3042842685
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Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
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Roberts PS, Dabora S, Thiele EA, et al.: Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J Med Genet 2004, 41:e69.
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(2004)
J Med Genet
, vol.41
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Roberts, P.S.1
Dabora, S.2
Thiele, E.A.3
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26
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High rate of mosaicism in tuberous sclerosis complex
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Verhoef S, Bakker L, Tempelaars AM, et al.: High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 1999, 64:1632-1637.
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Am J Hum Genet
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Verhoef, S.1
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1542407036
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Genotype and psychological phenotype in tuberous sclerosis
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Lewis JC, Thomas HV, Murphy KC, et al.: Genotype and psychological phenotype in tuberous sclerosis. J Med Genet 2004, 41:203-207. This is a phenotypic study of a moderate-size group of patients (92) with defined mutations, although the number (22) of subjects with TSC1 mutations studied was relatively low. The severity of symptoms was assessed and correlated with the mutated locus (TSC1 vs TSC2) in each subject. Overall, TSC2 mutations are associated with a less favorable prognosis for neurocognitive function compared with TSC1 mutations.
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(2004)
J Med Genet
, vol.41
, pp. 203-207
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Lewis, J.C.1
Thomas, H.V.2
Murphy, K.C.3
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28
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0347513190
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A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation
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Roberts PS, Ramesh V, Dabora S, et al.: A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. Ann Hum Genet 2003, 67:495-503. The report describes a rare deletion polymorphism that may modify the TSC phenotype when a second pathologic, but possibly mild or mosaic, mutation is present.
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(2003)
Ann Hum Genet
, vol.67
, pp. 495-503
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Roberts, P.S.1
Ramesh, V.2
Dabora, S.3
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29
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Towards a new classification of ectodermal dysplasias
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Lamartine J: Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003, 28:351-355. A new classification of ED is proposed based on the functions of the underlying molecular causes.
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Clin Exp Dermatol
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, pp. 351-355
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Lamartine, J.1
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3042813412
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p63: Molecular complexity in development and cancer
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Westfall MD, Pietenpol JA: p63: Molecular complexity in development and cancer. Carcinogenesis 2004, 25:857-864. This is an excellent review of p63 biology, including its function as a transcription factor and regulator of the cell cycle. The roles of p63 in epithelial development and in tumorigenesis are also summarized.
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Carcinogenesis
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, pp. 857-864
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Westfall, M.D.1
Pietenpol, J.A.2
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Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia
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Kantaputra PN, Hamada T, Kumchai T, et al.: Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 2003, 82:433-437.
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J Dent Res
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Kantaputra, P.N.1
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Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
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Dianzani I, Garelli E, Gustavsson P, et al.: Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. J Med Genet 2003, 40:e133.
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J Med Genet
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The Rapp-Hodgkin syndrome results from mutations of the TP63 gene
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Bougeard G, Hadj-Rabia S, Faivre L, et al.: The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet 2003, 11:700-704.
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Eur J Hum Genet
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Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder
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Bertola DR, Kim CA, Albano LMJ, et al.: Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clin Genet 2004, 66:79-80. This paper is important in establishing that Rapp-Hodgkin and AEC syndromes are molecularly indistinguishable disorders with a variable clinical spectrum.
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Clin Genet
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EEC syndrome type 3 with a heterozygous germline mutation in the p63 gene and B-cell lymphoma
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Akahoshi K, Sakazume S, Kosaki K, et al.: EEC syndrome type 3 with a heterozygous germline mutation in the p63 gene and B-cell lymphoma. Am J Med Genet 2003, 120A:370-373. This paper and two previous case reports suggest a risk of lymphoma in p63-related disorders.
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Am J Med Genet
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Gershoni-Baruch R, Goldscher D, Hochberg Z: Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. Am J Med Genet 1997, 68:168-172.
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Connexin gene pathology
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Richard G: Connexin gene pathology. Clin Exp Dermatol 2003, 28:397-409. This is an excellent review of both the basic science and the clinical implications of connexin gene alterations.
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Clin Exp Dermatol
, vol.28
, pp. 397-409
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Richard, G.1
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Connexins 26, 30, and 43: Differences among spontaneous, chronic, and accelerated human wound healing
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Brandner JM, Houdek P, Husing B, et al.: Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing. J Invest Dermatol 2004, 122:1310-1320.
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J Invest Dermatol
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Genetic heterogeneity of KID syndrome: Identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
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Jan AY, Amin S, Ratajczak P, et al.: Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004, 122:1108-1113. This report links the keratitis-ichthyosis-deafness syndrome to a second connexin gene. It is also a good review of several genetic diseases associated with connexin mutations.
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J Invest Dermatol
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Jan, A.Y.1
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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
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Richard G, Smith LE, Bailey RA, et al.: Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998, 20:366-369.
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Macari F, Landau M, Cousin P, et al.: Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000, 67:1296-1301.
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Richard G, Brown N, Rouan F, et al.: Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol 2003, 120:601-609.
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Richard G, White TW, Smith LE, et al.: Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998, 103:393-399.
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A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
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Maestrini E, Korge BP, Ocana-Sierra J, et al.: A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999, 8:1237-1243.
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Hum Mol Genet
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Structural and functional consequences of loricrin mutations in human loricrin keratodermal (Vonwinkel syndrome with ichthyosis)
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Schmuth M, Fluhr JW, Crumrine DC, et al.: Structural and functional consequences of loricrin mutations in human loricrin keratodermal (Vonwinkel syndrome with ichthyosis). J Invest Dermatol 2004, 122:909-922.
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Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
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