Mutations in SUFU predispose to medulloblastoma

Nature Genetics

Volumn 31, Issue 3, 2002, Pages 306-310

  Taylor, Michael D ^a,b   Liu, Ling ^c   Raffel, Corey ^d   Hui, Chi chung ^c   Mainprize, Todd G ^a   Zhang, Xiaoyun ^c   Agatep, Ron ^c   Chiappa, Sharon ^d   Gao, Luzhang ^c   Lowrance, Anja ^c   Hao, Aihau ^c   Goldstein, Alisa M ^e   Stavrou, Theodora ^e,f   Scherer, Stephen W ^c   Dura, Wieslaw T ^g   Wainwright, Brandon ^h   Squire, Jeremy A ^c   Rutka, James T ^a,b   Hogg, David ^c  

^a Arthur and Sonia Labatt Brain Tumour Research Centre   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d MAYO CLINIC   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF WARSAW   (Poland)

^h UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MEMBRANE PROTEIN; PROTEIN PATCHED 1; SMOOTHENED PROTEIN; SONIC HEDGEHOG PROTEIN; SUFU PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; BASAL CELL CARCINOMA; CANCER SUSCEPTIBILITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; GENE ACTIVATION; GENE CONTROL; GENE DISRUPTION; GENE MUTATION; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GERM LINE; HUMAN; MEDULLOBLASTOMA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SOMATIC MUTATION; TRANSCRIPTION INITIATION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; CEREBELLAR NEOPLASMS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CONSENSUS SEQUENCE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HOLOPROSENCEPHALY; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MEDULLOBLASTOMA; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE DELETION; SIGNAL TRANSDUCTION;

ERINACEIDAE;

EID: 0036648241     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng916     Document Type: Article

References (31)

1. Sonic hedgehog regulates the growth and patterning of the cerebellum
2. Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog
3. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
4. Human homolog of patched, a candidate gene for the basal cell nevus syndrome
5. Nevoid basal-cell carcinoma syndrome
6. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
7. Sporadic medulloblastomas contain PTCH mutations
8. Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: Different in vivo mechanisms of PTCH inactivation
9. Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system
10. Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma
11. Molecular insight into medulloblastoma and central nervous system primitive neuroectodermal tumor biology from hereditary syndromes: A review
12. Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system
13. Activating Smoothened mutations in sporadic basal-cell carcinoma
14. Identification of an amplified, highly expressed gene in a human giloma
15. Altered neural cell fates and medulloblastoma in mouse patched mutants
16. Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome
17. Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
18. Basal cell carcinomas in mice overexpressing Gli 2 in skin
19. Basal cell carcinomas in mice overexpressing sonic hedgehog
20. Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping
21. Sporadic medulloblastomas contain oncogenic β-catenin mutations
22. Prediction of central nervous system embryonal tumour outcome based on gene expression
23. Interstitial deletion of 10q: Clinical features and literature review
24. Hedgehog stimulates maturation of Cubitus interruptus into a labile transcriptional activator
25. A binding site for Gli proteins is essential for HNF-3β floor plate enhancer activity in transgenics and can respond to Shh in vitro
26. Suppressor of fused negatively regulates β-catenin signaling
27. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients
28. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
29. Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma
30. Analysis of oncogene and tumor suppressor gene alterations in pediatric malignant astrocytomas reveals reduced survival for patients with PTEN mutations
31. Mouse suppressor of fused is a negative regulator of sonic hedgehog signaling and alters the subcellular distribution of Gli 1