Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome

American Journal of Human Genetics

Volumn 67, Issue 2, 2000, Pages 476-482

  Yoshihashi, Hiroshi ^a   Maeyama, Katsuhiro ^a   Kosaki, Rika ^a   Ogata, Tsutomu ^a   Tsukahara, Masato ^c   Goto, Yu Ichi ^b   Hata, Jun Ichi ^a   Matsuo, Nobutake ^a   Smith, Robert J ^d   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c YAMAGUCHI UNIVERSITY   (Japan)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 7; CHROMOSOME DUPLICATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; GENE MUTATION; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME;

EID: 0033854339     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302997     Document Type: Article

References (52)

1. Autosomal dominant Russell-Silver syndrome
2. Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease
3. Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases
4. Two patients with ring chromosome 15 syndrome
5. Association of a redefined proximal mouse chromosome 11 imprinting region and U2afbp-rs/U2af1-rs1 expression
6. Deletion short arm 18 and Silver-Russell syndrome
7. Three-generation dominant transmission of the Silver-Russell syndrome
8. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome
9. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
10. A model system to study genomic imprinting of human genes
11. Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands
12. Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12
13. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
14. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
15. Human PEG1/MEST, an imprinted gene on chromosome 7
16. Isoform-specific imprinting of the human PEG1/MEST gene
17. Diagnosis of maternal UPD 7 by methylation specific PCR
18. Prader-Willi syndrome and Angelman syndromes: Diagnosis with a bisulfite treated-methylation specific PCR method
19. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
20. Methylation-specific PCR simplifies imprinting analysis
21. The adapter protein Grb10 associates preferentially with the insulin receptor as compared with the IGF-I receptor in mouse fibroblasts
22. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
23. Second Observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
24. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene
25. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
26. The role of mGrb10alpha in insulin-like growth factor I-mediated growth
27. Grb10 identified as a potential regulator of growth hormone (GH) signaling by cloning of GH receptor target proteins
28. Interaction of a GRB-IR splice variant (a human GRB10 homolog) with the insulin and insulin-like growth factor I receptors: Evidence for a role in mitogenic signaling
29. The cloning of Grb10 reveals a new family of SH2 domain proteins
30. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
31. Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome
32. Maternal uniparental disomy 7 in Silver-Russell syndrome
33. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
34. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
35. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome
36. Monoallelic expression of human PEG1/MEST is paralleled by parent- specific methylation in fetuses
37. An infant with deletion of the distal long arm of chromosome 15 (q26.1-qter) and loss of insulin-like growth factor I receptor
38. Silver-Russell syndrome: A family with symmetric and asymmetric siblings
39. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
40. A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms and other anomalies
41. Aninterstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features
42. Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15
43. Syndrome of congenital hypertrophy, shortness of stature and elevated gonadotropins
44. Growth hormone treatment of Russell-Silver syndrome
45. Ring chromosome 15 involving deletion of the insulin-like growth receptor gene in a patient with features of Silver-Russell syndrome
46. Autosomal recessive Silver-Russell syndrome
47. Global sequence diversity of BRCA2: Analysis of 71 breast cancer familiesand 95 control individuals of worldwide populations
48. Genetics of Silver-Russell syndrome
49. Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor BB-, insulin-like growth factor I-, and insulin-mediated mitogenesis
50. Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes
51. Sequence analysis identifies a ras-associating (RA)-like domain in the N-termini of band 4.1/JEF domains and in the Grb7/10/14 adapter family
52. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene