| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Felicitas Lacbawan | Q71013815 |
| P2093 | author name string | David Wotton | |
| Shannon E Powers | |||
| Maximilian Muenke | |||
| Laurent Bartholin | |||
| Erich Roessler | |||
| Jin Hahn | |||
| Ieda M Orioli | |||
| Kenia B El-Jaick | |||
| Kenneth R Myers | |||
| Maia Ouspenskaia | |||
| P2860 | cites work | Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired | Q22003954 |
| Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly | Q22009990 | ||
| A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 | Q24306603 | ||
| A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif | Q24313957 | ||
| Regulation of TG-interacting factor by transforming growth factor-beta | Q24529895 | ||
| Epidermal growth factor signaling via Ras controls the Smad transcriptional co-repressor TGIF. | Q24540358 | ||
| Analysis of TALE superclass homeobox genes (MEIS, PBC, KNOX, Iroquois, TGIF) reveals a novel domain conserved between plants and animals | Q24545590 | ||
| Physical mapping of the holoprosencephaly critical region in 18p11.3 | Q24671971 | ||
| The Tgif2 gene contains a retained intron within the coding sequence | Q25256819 | ||
| Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
| The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF | Q28139069 | ||
| A Smad transcriptional corepressor | Q28141283 | ||
| Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination | Q28145579 | ||
| The Smad transcriptional corepressor TGIF recruits mSin3 | Q28188642 | ||
| Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations | Q28202625 | ||
| TGIF2 interacts with histone deacetylase 1 and represses transcription | Q28203909 | ||
| A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects | Q28205546 | ||
| TGFbeta-induced factor: a candidate gene for high myopia | Q28211481 | ||
| Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Q28213823 | ||
| Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis | Q28216639 | ||
| Smad transcription factors | Q28284775 | ||
| Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function | Q28291924 | ||
| Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling | Q28512736 | ||
| Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly | Q28512829 | ||
| TGIF inhibits retinoid signaling | Q28590970 | ||
| Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice | Q33758266 | ||
| Genetics of ventral forebrain development and holoprosencephaly | Q33903161 | ||
| Modifier genes convert "simple" Mendelian disorders to complex traits | Q34043025 | ||
| Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. | Q34129727 | ||
| Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis | Q34255682 | ||
| In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation | Q34375184 | ||
| Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes | Q34472245 | ||
| Multiple hits during early embryonic development: digenic diseases and holoprosencephaly | Q34978312 | ||
| Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype | Q36930083 | ||
| Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Q37089385 | ||
| Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes. | Q37346093 | ||
| Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology | Q38735488 | ||
| Functional characterization of sonic hedgehog mutations associated with holoprosencephaly | Q40528928 | ||
| Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly | Q41090374 | ||
| Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly | Q41927008 | ||
| Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics | Q42576797 | ||
| Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia | Q44956585 | ||
| Holoprosencephaly: from Homer to Hedgehog | Q47964778 | ||
| Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly | Q48058539 | ||
| Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation | Q49018217 | ||
| Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. | Q51951452 | ||
| Expression pattern of TG-interacting factor 2 during mouse development. | Q52055876 | ||
| Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. | Q52109508 | ||
| The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. | Q52173272 | ||
| Expression and functional analysis of Tgif during mouse midline development. | Q52567151 | ||
| Multiple modes of repression by the Smad transcriptional corepressor TGIF | Q73279910 | ||
| Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991 | Q93508047 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | holoprosencephaly | Q1459821 |
| P304 | page(s) | 97-111 | |
| P577 | publication date | 2006-09-07 | |
| P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
| P1476 | title | Functional analysis of mutations in TGIF associated with holoprosencephaly | |
| P478 | volume | 90 |
| Q33625707 | Analysis of genotype-phenotype correlations in human holoprosencephaly |
| Q89544139 | Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling |
| Q33624701 | Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients |
| Q56375683 | Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly |
| Q30275289 | Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning |
| Q38797075 | Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. |
| Q33624871 | Holoprosencephaly due to numeric chromosome abnormalities |
| Q41918303 | Holoprosencephaly with neurogenic hypernatremia: a new case. |
| Q36948731 | Holoprosencephaly: new models, new insights |
| Q44089747 | Homeobox gene transforming growth factor β-induced factor-1 (TGIF-1) is a regulator of villous trophoblast differentiation and its expression is increased in human idiopathic fetal growth restriction |
| Q30428177 | Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway |
| Q51948735 | Maternal Tgif1 regulates nodal gene expression in Xenopus. |
| Q35154711 | Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly |
| Q37697812 | Molecular analysis of holoprosencephaly in South America |
| Q37383070 | Murine models of holoprosencephaly |
| Q34041333 | New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies |
| Q90540512 | Pituitary Transcription Factor Mutations Leading to Hypopituitarism |
| Q90163058 | Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes |
| Q35546457 | TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype |
| Q90637266 | TGIF1 homeodomain interacts with Smad MH1 domain and represses TGF-β signaling |
| Q30276796 | Tgif1 and Tgif2 Regulate Axial Patterning in Mouse |
| Q24652997 | Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation |
| Q33624762 | The molecular genetics of holoprosencephaly |
| Q37411003 | The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis |
| Q34329523 | The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes |
| Q47071938 | Transgenic analyses of TGIF family proteins in Drosophila imply their role in cell growth |
| Q37709820 | Trisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T's. Look at the hands |
| Q35842931 | Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions |
| Q91202021 | Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants |
| Q46903255 | Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism |
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