Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene
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References (28)
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
1996 • 767 citations
Regulation of growth factor activation by proteoglycans: What is the role of the low affinity receptors?
1995 • 478 citations
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
1997 • 355 citations
Glypican-3–Deficient Mice Exhibit Developmental Overgrowth and Some of the Abnormalities Typical of Simpson-Golabi-Behmel Syndrome
1999 • 322 citations
Clustal V: Multiple Alignment of DNA and Protein Sequences
1994 • 301 citations
Stimulation of fibroblast growth factor receptor-1 occupancy and signaling by cell surface-associated syndecans and glypican.
1996 • 273 citations
The division abnormally delayed (dally) gene: a putative integral membrane proteoglycan required for cell division patterning during postembryonic development of the nervous system in Drosophila
1995 • 271 citations
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
1998 • 187 citations
OCI-5/GPC3, a Glypican Encoded by a Gene That Is Mutated in the Simpson-Golabi-Behmel Overgrowth Syndrome, Induces Apoptosis in a Cell Line–specific Manner
1998 • 186 citations
Molecular genetics of Wiedemann-Beckwith syndrome
1998 • 151 citations
Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families
1996 • 137 citations
OCI-5/Rat Glypican-3 Binds to Fibroblast Growth Factor-2 but Not to Insulin-like Growth Factor-2
1997 • 132 citations
Glypican-6, a New Member of the Glypican Family of Cell Surface Heparan Sulfate Proteoglycans
1999 • 124 citations
A previously unrecognized X-linked syndrome of dysmorphia.
1975 • 114 citations
Simpson‐golabi‐behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen‐q21
1992 • 108 citations
GPC4,the Gene for Human K-Glypican, FlanksGPC3on Xq26: Deletion of theGPC3–GPC4Gene Cluster in One Family with Simpson–Golabi–Behmel Syndrome
1998 • 83 citations
Infantile lethal variant of Simpson‐Golabi‐Behmel syndrome associated with hydrops fetalis
1995 • 78 citations
Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome
1999 • 68 citations
GPC6, a Novel Member of the Glypican Gene Family, Encodes a Product Structurally Related to GPC4 and Is Colocalized withGPC5on Human Chromosome 13
1999 • 67 citations
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
1997 • 65 citations
Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall
1995 • 50 citations
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
1998 • 48 citations
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family
1999 • 47 citations
Mapping of Simpson - Golabi - Behmel syndrome to Xq25 - q27
1994 • 40 citations
Analysis of Exon/Intron Structure and 400 kb of Genomic Sequence Surrounding the 5′-Promoter and 3′-Terminal Ends of the Human Glypican 3 (GPC3) Gene
1997 • 31 citations
Extending the overlap of three congenital overgrowth syndromes
1997 • 31 citations
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
1999 • 29 citations
Overgrowth Syndromes and the Regulation of Signaling Complexes by Proteoglycans
1999 • 21 citations