Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
about
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsComprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activityMutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlationStructural basis for the unique biological function of small GTPase RHEBSurvey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesionsMolecular and clinical analyses of 84 patients with tuberous sclerosis complex.Lymphangioleiomyomatosis: what do we know and what are we looking for?Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene.Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphansGenomic sequence analysis of Fugu rubripes CFTR and flanking genes in a 60 kb region conserving synteny with 800 kb of human chromosome 7.Quality not quantity: the pufferfish genome.Characterization of the transcription factor MTF-1 from the Japanese pufferfish (Fugu rubripes) reveals evolutionary conservation of heavy metal stress response.Aberrant processing of the Fugu HD (FrHD) mRNA in mouse cells and in transgenic mice.The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.
P2860
Q24535643-D311AC29-522B-418A-BFD1-07162944D820Q24540242-C6FAD830-FE83-40BC-8F39-A6E532627DF3Q24563018-A644D6B9-72DA-4F53-8A16-1F2846E39C3BQ24681838-04470AEA-9987-44B3-834E-BCA64103AAA5Q28910458-2EA9FD6D-11B9-4D8E-9B08-43A927E213C1Q30692065-99A32CBD-FA0C-4930-9F41-156AD1ED4098Q33257900-B8833737-D555-4C53-9C68-E549EA82C200Q36067383-FBFA83D6-19DB-4FF3-BF98-F4799995E2B0Q36108418-781E1007-BF8D-4555-9390-43D625B1C13EQ36330644-C92F45DD-E02D-4B90-A53E-22C84289EC11Q40414290-E2A4F858-DCA2-4DD8-8939-41576E0BBAF2Q40957100-65F59E46-6AFA-493F-9540-330D2995F2EAQ40962295-2072B14B-62D3-44B5-B1F9-3ABE25938596Q41084183-F4E77A3E-B694-45C2-8559-096471BED099Q42664041-D9A9D2D5-EC6A-4D22-A685-EAB84BCD6525Q48046816-9713D9D5-D546-4BE6-A9FD-BEBDC973EE17
P2860
Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Comparative analysis and genom ...... gene in human and pufferfish.
@ast
Comparative analysis and genom ...... gene in human and pufferfish.
@en
Comparative analysis and genomic structure of the tuberous sclerosis 2
@nl
type
label
Comparative analysis and genom ...... gene in human and pufferfish.
@ast
Comparative analysis and genom ...... gene in human and pufferfish.
@en
Comparative analysis and genomic structure of the tuberous sclerosis 2
@nl
prefLabel
Comparative analysis and genom ...... gene in human and pufferfish.
@ast
Comparative analysis and genom ...... gene in human and pufferfish.
@en
Comparative analysis and genomic structure of the tuberous sclerosis 2
@nl
P2093
P2860
P356
P1476
Comparative analysis and genom ...... gene in human and pufferfish.
@en
P2093
Cheadle JP
Maheshwar MM
Sampson JR
Sandford R
P2860
P304
P356
10.1093/HMG/5.1.131
P577
1996-01-01T00:00:00Z