296 related articles for article (PubMed ID: 18836447)
1. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Jeong Y; Leskow FC; El-Jaick K; Roessler E; Muenke M; Yocum A; Dubourg C; Li X; Geng X; Oliver G; Epstein DJ
Nat Genet; 2008 Nov; 40(11):1348-53. PubMed ID: 18836447
[TBL] [Abstract][Full Text] [Related]
2. Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Geng X; Speirs C; Lagutin O; Inbal A; Liu W; Solnica-Krezel L; Jeong Y; Epstein DJ; Oliver G
Dev Cell; 2008 Aug; 15(2):236-47. PubMed ID: 18694563
[TBL] [Abstract][Full Text] [Related]
3. Six3 dosage mediates the pathogenesis of holoprosencephaly.
Geng X; Acosta S; Lagutin O; Gil HJ; Oliver G
Development; 2016 Dec; 143(23):4462-4473. PubMed ID: 27770010
[TBL] [Abstract][Full Text] [Related]
4. EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.
Abe Y; Oka A; Mizuguchi M; Igarashi T; Ishikawa S; Aburatani H; Yokoyama S; Asahara H; Nagao K; Yamada M; Miyashita T
Hum Mutat; 2009 Oct; 30(10):E946-55. PubMed ID: 19606496
[TBL] [Abstract][Full Text] [Related]
5. New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S; Dubourg C; Garcelon N; Campillo-Gimenez B; Gicquel I; Belleguic M; Ratié L; Pasquier L; Loget P; Bendavid C; Jaillard S; Rochard L; Quélin C; Dupé V; David V; Odent S
J Med Genet; 2011 Nov; 48(11):752-60. PubMed ID: 21940735
[TBL] [Abstract][Full Text] [Related]
6. SHH signaling mediated by a prechordal and brain enhancer controls forebrain organization.
Sagai T; Amano T; Maeno A; Ajima R; Shiroishi T
Proc Natl Acad Sci U S A; 2019 Nov; 116(47):23636-23642. PubMed ID: 31685615
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U; Pineda-Alvarez DE; Uyanik G; Hu P; Zhou N; Hehr A; Schell-Apacik C; Altus C; Daumer-Haas C; Meiner A; Steuernagel P; Roessler E; Winkler J; Muenke M
Hum Genet; 2010 Mar; 127(5):555-61. PubMed ID: 20157829
[TBL] [Abstract][Full Text] [Related]
8. Genomic code for Sox2 binding uncovers its regulatory role in Six3 activation in the forebrain.
Lee B; Song H; Rizzoti K; Son Y; Yoon J; Baek K; Jeong Y
Dev Biol; 2013 Sep; 381(2):491-501. PubMed ID: 23792023
[TBL] [Abstract][Full Text] [Related]
9. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Bendavid C; Dubourg C; Gicquel I; Pasquier L; Saugier-Veber P; Durou MR; Jaillard S; Frébourg T; Haddad BR; Henry C; Odent S; David V
Hum Genet; 2006 Mar; 119(1-2):1-8. PubMed ID: 16323008
[TBL] [Abstract][Full Text] [Related]
10. Homeodomain Proteins SIX3 and SIX6 Regulate Gonadotrope-specific Genes During Pituitary Development.
Xie H; Hoffmann HM; Meadows JD; Mayo SL; Trang C; Leming SS; Maruggi C; Davis SW; Larder R; Mellon PL
Mol Endocrinol; 2015 Jun; 29(6):842-55. PubMed ID: 25915183
[TBL] [Abstract][Full Text] [Related]
11. Mouse models of holoprosencephaly.
Hayhurst M; McConnell SK
Curr Opin Neurol; 2003 Apr; 16(2):135-41. PubMed ID: 12644739
[TBL] [Abstract][Full Text] [Related]
12. 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.
Roessler E; Vélez JI; Zhou N; Muenke M
Mol Genet Metab; 2012 Apr; 105(4):658-64. PubMed ID: 22310223
[TBL] [Abstract][Full Text] [Related]
13. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Bendavid C; Haddad BR; Griffin A; Huizing M; Dubourg C; Gicquel I; Cavalli LR; Pasquier L; Shanske AL; Long R; Ouspenskaia M; Odent S; Lacbawan F; David V; Muenke M
J Med Genet; 2006 Jun; 43(6):496-500. PubMed ID: 16199538
[TBL] [Abstract][Full Text] [Related]
14. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD; Schrander-Stumpel CT; Tserpelis DC; Spee MK; Stegmann AP; Mancini GM; Brooks AS; Collée M; Maat-Kievit A; Simon ME; van Bever Y; Stolte-Dijkstra I; Kerstjens-Frederikse WS; Herkert JC; van Essen AJ; Lichtenbelt KD; van Haeringen A; Kwee ML; Lachmeijer AM; Tan-Sindhunata GM; van Maarle MC; Arens YH; Smeets EE; de Die-Smulders CE; Engelen JJ; Smeets HJ; Herbergs J
Eur J Hum Genet; 2010 Sep; 18(9):999-1005. PubMed ID: 20531442
[TBL] [Abstract][Full Text] [Related]
15. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Dubourg C; Lazaro L; Pasquier L; Bendavid C; Blayau M; Le Duff F; Durou MR; Odent S; David V
Hum Mutat; 2004 Jul; 24(1):43-51. PubMed ID: 15221788
[TBL] [Abstract][Full Text] [Related]
16. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Gripp KW; Wotton D; Edwards MC; Roessler E; Ades L; Meinecke P; Richieri-Costa A; Zackai EH; Massagué J; Muenke M; Elledge SJ
Nat Genet; 2000 Jun; 25(2):205-8. PubMed ID: 10835638
[TBL] [Abstract][Full Text] [Related]
17. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
Taniguchi K; Anderson AE; Sutherland AE; Wotton D
PLoS Genet; 2012; 8(2):e1002524. PubMed ID: 22383895
[TBL] [Abstract][Full Text] [Related]
18. Holoprosencephaly: molecular study of a California population.
Nanni L; Croen LA; Lammer EJ; Muenke M
Am J Med Genet; 2000 Feb; 90(4):315-9. PubMed ID: 10710230
[TBL] [Abstract][Full Text] [Related]
19. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F; Solomon BD; Roessler E; El-Jaick K; Domené S; Vélez JI; Zhou N; Hadley D; Balog JZ; Long R; Fryer A; Smith W; Omar S; McLean SD; Clarkson K; Lichty A; Clegg NJ; Delgado MR; Levey E; Stashinko E; Potocki L; Vanallen MI; Clayton-Smith J; Donnai D; Bianchi DW; Juliusson PB; Njølstad PR; Brunner HG; Carey JC; Hehr U; Müsebeck J; Wieacker PF; Postra A; Hennekam RC; van den Boogaard MJ; van Haeringen A; Paulussen A; Herbergs J; Schrander-Stumpel CT; Janecke AR; Chitayat D; Hahn J; McDonald-McGinn DM; Zackai EH; Dobyns WB; Muenke M
J Med Genet; 2009 Jun; 46(6):389-98. PubMed ID: 19346217
[TBL] [Abstract][Full Text] [Related]
20. Identification of a conserved cis-regulatory element controlling mid-diencephalic expression of mouse Six3.
Lee B; Yoon J; Tri Lam D; Yoon J; Baek K; Jeong Y
Genesis; 2017 Mar; 55(3):. PubMed ID: 28093895
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
