| The development of chromosomal abnormalities within GLI3 is associated with the pathogenesis of hypothalamic hamartoma (HH) lesions in sporadic, nonsyndromic patients with HH and intractable epilepsy. | Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.
Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF, Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF., Free PMC Articles: PMC2427231, PMC2427231 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesMolecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES, Zmuda JM, MrOS Research Group. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.
Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF, Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF. [Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus].
Zhang X, Jin CL, Liu LY, Zhao N, Zhang LJ, Ji SJ, Sun KL. | 03/13/2008 |
| Gli3, by acting as a transcriptional repressor, restricted graded Shh/Gli ventral activity to properly pattern the spinal cord. | Wnt canonical pathway restricts graded Shh/Gli patterning activity through the regulation of Gli3 expression.
Alvarez-Medina R, Cayuso J, Okubo T, Takada S, Martí E. | 01/21/2010 |
| Characterization of the interactions of human ZIC3 mutants with GLI3 | Characterization of the interactions of human ZIC3 mutants with GLI3.
Zhu L, Zhou G, Poole S, Belmont JW. | 01/21/2010 |
| SALL1 and GLI3 may have roles in limb malformation and are affected by nonsense-mediated decay | Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
Furniss D, Critchley P, Giele H, Wilkie AO. | 01/21/2010 |
| explain, at the molecular level, why Gli2 and Gli3 are differentially processed | A novel protein-processing domain in Gli2 and Gli3 differentially blocks complete protein degradation by the proteasome.
Pan Y, Wang B. | 01/21/2010 |
| A Gli3 mutant allele transgene that expresses only the full-length form can rescue the sonic hedgehog (Shh) mutant digit phenotype to a great extent. | The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning.
Wang C, Rüther U, Wang B., Free PMC Article | 01/21/2010 |
| This mutation, a 72-bp insertion into exon 14 of the GLI3 gene, creates a premature stop codon and predicts a truncated protein product. | Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.
Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. | 01/21/2010 |
| Greig cephalopolysyndactyly is an autosomal dominant condition caused by mutations of the gene GLI3, located on 7p13. | Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. | 01/21/2010 |
| Multisite glycogen synthase kinase 3beta (GSK3beta) phosphorylation and ubiquitination by SCFbetaTrCP are required for Gli3 processing. | Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP.
Tempé D, Casas M, Karaz S, Blanchet-Tournier MF, Concordet JP., Free PMC Article | 01/21/2010 |
| Mutations are described for the Pallister-Hall syndrome (syndactyly). | Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Freese K, Driess S, Bornholdt D, Shoenle EJ, Seidel H, Tinschert S, Grzeschik KH, Kalff-Suske M. | 01/21/2010 |
| Mutation data on GL13 are presented. | Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Driess S, Freese K, Bornholdt D, Kobelt A, Kress W, Mortier G, Radhakrishna U, Antonarakis SE, Rauch A, Suri M, Verheij JB, Woerle H, Grzeschik KH, Kalff-Suske M. | 01/21/2010 |
| results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis. | Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG., Free PMC Article | 01/21/2010 |
| There is direct link between phosphorylation of Gli3/Ci proteins and betaTrCP/Slimb action, thus supporting the hypothesis that the processing of Gli3/Ci is affected by the proteasome. | Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing.
Wang B, Li Y., Free PMC Article | 01/21/2010 |
| Patients with Greig cephalopolysyndactyly syndrome caused by large deletions that include GLI3 are likely to have cognitive deficits. | Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. | 01/21/2010 |