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Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Pauws E., Hoshino A., Bentley L., Prajapati S., Keller C., Hammond P., Martinez-Barbera J.P., Moore G.E., Stanier P.

Hum. Mol. Genet. 18:4171-4179(2009) · Mapped (25)

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.

Pauws E., Moore G.E., Stanier P.

J. Med. Genet. 46:555-561(2009) · Mapped (4)

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects.

Doudney K., Grinham J., Whittaker J., Lynch S.A., Thompson D., Moore G.E., Copp A.J., Greene N.D., Stanier P.

Am. J. Med. Genet. A 149A:1585-1589(2009) · Mapped (28)

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.

Monk D., Arnaud P., Frost J., Hills F.A., Stanier P., Feil R., Moore G.E.

Hum. Mol. Genet. 18:3066-3074(2009) · Mapped (6)

High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.

Prasad N.K., Tandon M., Handa A., Moore G.E., Babbs C.F., Snyder P.W., Bose S.

Tumour Biol. 29:330-341(2008) · Mapped (1)

Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.

Dixon P.H., van Mil S.W., Chambers J., Strautnieks S., Thompson R.J., Lammert F., Kubitz R., Keitel V., Glantz A., Mattsson L.A. et al.

Gut 58:537-544(2009) · Mapped (5)

Transcript- and tissue-specific imprinting of a tumour suppressor gene.

Schulz R., McCole R.B., Woodfine K., Wood A.J., Chahal M., Monk D., Moore G.E., Oakey R.J.

Hum. Mol. Genet. 18:118-127(2009) · Mapped (6)

Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.

Parker-Katiraee L., Bousiaki E., Monk D., Moore G.E., Nakabayashi K., Scherer S.W.

Hum. Mol. Genet. 17:3263-3270(2008) · Mapped (5)

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.

Monk D., Wagschal A., Arnaud P., Muller P.S., Parker-Katiraee L., Bourc'his D., Scherer S.W., Feil R., Stanier P., Moore G.E.

Genome Res. 18:1270-1281(2008) · Mapped (26)

Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10.

Menheniott T.R., Woodfine K., Schulz R., Wood A.J., Monk D., Giraud A.S., Baldwin H.S., Moore G.E., Oakey R.J.

Mol. Cell. Biol. 28:386-396(2008) · Mapped (16)

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Andreou A.M., Pauws E., Jones M.C., Singh M.K., Bussen M., Doudney K., Moore G.E., Kispert A., Brosens J.J., Stanier P.

Am. J. Hum. Genet. 81:700-712(2007) · UniProtKB (1) · Mapped (3)

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

Parker-Katiraee L., Carson A.R., Yamada T., Arnaud P., Feil R., Abu-Amero S.N., Moore G.E., Kaneda M., Perry G.H., Stone A.C. et al.

PLoS Genet. 3:e65-e65(2007) · Mapped (3)

Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight.

Apostolidou S., Abu-Amero S., O'Donoghue K., Frost J., Olafsdottir O., Chavele K.M., Whittaker J.C., Loughna P., Stanier P., Moore G.E.

J. Mol. Med. 85:379-387(2007) · Mapped (1)

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Zhou H., Brockington M., Jungbluth H., Monk D., Stanier P., Sewry C.A., Moore G.E., Muntoni F.

Am. J. Hum. Genet. 79:859-868(2006) · Mapped (6)

Imprinting control within the compact Gnas locus.

Peters J., Holmes R., Monk D., Beechey C.V., Moore G.E., Williamson C.M.

Cytogenet. Genome Res. 113:194-201(2006) · Mapped (19)

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

Monk D., Sanches R., Arnaud P., Apostolidou S., Hills F.A., Abu-Amero S., Murrell A., Friess H., Reik W., Stanier P. et al.

Hum. Mol. Genet. 15:1259-1269(2006) · UniProtKB (2)

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.

Doudney K., Ybot-Gonzalez P., Paternotte C., Stevenson R.E., Greene N.D., Moore G.E., Copp A.J., Stanier P.

Am. J. Med. Genet. A 136:90-92(2005) · UniProtKB (1)

TBX22 mutations are a frequent cause of cleft palate.

Marcano A.C.B., Doudney K., Braybrook C., Squires R., Patton M.A., Lees M.M., Richieri-Costa A., Lidral A.C., Murray J.C., Moore G.E. et al.

J. Med. Genet. 41:68-74(2004) · UniProtKB (1) · Mapped (3)

Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis.

Monk D., Smith R., Arnaud P., Preece M.A., Stanier P., Beechey C.V., Peters J., Kelsey G., Moore G.E.

Mamm. Genome 14:805-816(2003) · Mapped (12)

Beta2- and beta3-adrenergic receptor polymorphisms and exercise hemodynamics in postmenopausal women.

McCole S.D., Shuldiner A.R., Brown M.D., Moore G.E., Ferrell R.E., Wilund K.R., Huberty A., Douglass L.W., Hagberg J.M.

J. Appl. Physiol. 96:526-530(2004) · Mapped (6)

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.

Murrell A., Heeson S., Cooper W.N., Douglas E., Apostolidou S., Moore G.E., Maher E.R., Reik W.

Hum. Mol. Genet. 13:247-255(2004) · Mapped (5)

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.

Arnaud P., Monk D., Hitchins M., Gordon E., Dean W., Beechey C.V., Peters J., Craigen W., Preece M., Stanier P. et al.

Hum. Mol. Genet. 12:1005-1019(2003) · Mapped (4)

Human chromosome 7: DNA sequence and biology.

Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al.

Science 300:767-772(2003) · UniProtKB (658)

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.

Bentley L., Nakabayashi K., Monk D., Beechey C., Peters J., Birjandi Z., Khayat F.E., Patel M., Preece M.A., Stanier P. et al.

J. Med. Genet. 40:249-256(2003) · UniProtKB (1)

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C., Lisgo S., Doudney K., Henderson D., Marcano A.C.B., Strachan T., Patton M.A., Villard L., Moore G.E., Stanier P. et al.

Hum. Mol. Genet. 11:2793-2804(2002) · UniProtKB (2) · Mapped (11)

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