| A role for NANOG in G1 to S transition in human embryonic stem cells through direct binding of CDK6 and CDC25A. Zhang X., Neganova I., Przyborski S., Yang C., Cooke M., Atkinson S.P., Anyfantis G., Fenyk S., Keith W.N., Hoare S.F. et al.
J. Cell Biol. 184:67-82(2009) · UniProtKB (1) · Mapped (2) |
| Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. Seitan V.C., Banks P., Laval S., Majid N.A., Dorsett D., Rana A., Smith J., Bateman A., Krpic S., Hostert A. et al.
PLoS Biol. 4:E242-E242(2006) · UniProtKB (3) · Mapped (7) |
| Downregulation of NANOG induces differentiation of human embryonic stem cells to extraembryonic lineages. Hyslop L.A., Stojkovic M., Armstrong L., Walter T., Stojkovic P., Przyborski S., Herbert M., Murdoch A., Strachan T., Lako M.
Stem Cells 23:1035-1043(2005) · UniProtKB (1) · Mapped (1) |
| Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. Strachan T.
Curr. Opin. Genet. Dev. 15:258-264(2005) · Mapped (14) |
| A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Tonkin E.T., Smith M., Eichhorn P., Jones S., Imamwerdi B., Lindsay S., Jackson M., Wang T.-J., Ireland M., Burn J. et al.
Hum. Genet. 115:139-148(2004) · UniProtKB (2) |
| NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Tonkin E.T., Wang T.-J., Lisgo S., Bamshad M.J., Strachan T.
Nat. Genet. 36:636-641(2004) · UniProtKB (3) · Mapped (1) |
| Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto E.A., Schermer B., Obara T., O'Toole J.F., Hiller K.S., Mueller A.M., Ruf R.G., Hoefele J., Beekmann F., Landau D. et al.
Nat. Genet. 34:413-420(2003) · UniProtKB (3) · Mapped (2) |
| Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Morgan D., Eley L., Sayer J., Strachan T., Yates L.M., Craighead A.S., Goodship J.A.
Hum. Mol. Genet. 11:3345-3350(2002) · UniProtKB (2) |
| Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family. Tonkin E., Hagan D.-M., Li W., Strachan T.
Hum. Genet. 111:435-442(2002) · UniProtKB (3) · Mapped (6) |
| 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 (15) |
| The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin. Morgan D., Goodship J., Essner J.J., Vogan K.J., Turnpenny L., Yost H.J., Tabin C.J., Strachan T.
Hum. Genet. 110:377-384(2002) · UniProtKB (5) · Mapped (3) |
| Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. Dobson-Stone C., Fairclough R., Dunne E., Brown J., Dissanayake M., Munro C.S., Strachan T., Burge S., Sudbrak R., Monaco A.P. et al.
J. Invest. Dermatol. 118:338-343(2002) · UniProtKB (1) · Mapped (3) |
| Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Sudbrak R., Brown J., Dobson-Stone C., Carter S., Ramser J., White J., Healy E., Dissanayake M., Larregue M., Perrussel M. et al.
Hum. Mol. Genet. 9:1131-1140(2000) · UniProtKB (1) · Mapped (1) |
| The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Clement-Jones M., Schiller S., Rao E., Blaschke R.J., Zuniga A., Zeller R., Robson S.C., Binder G., Glass I., Strachan T. et al.
Hum. Mol. Genet. 9:695-702(2000) · Mapped (4) |
| Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S. et al.
Am. J. Hum. Genet. 66:1504-1515(2000) · UniProtKB (1) |
| Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes. Fougerousse F., Bullen P., Herasse M., Lindsay S., Richard I., Wilson D., Suel L., Durand M., Robson S., Abitbol M. et al.
Hum. Mol. Genet. 9:165-173(2000) · Mapped (45) |
| ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Ruiz-Perez V.L., Carter S.A., Healy E., Todd C., Rees J.L., Steijlen P.M., Carmichael A.J., Lewis H.M., Hohl D., Itin P. et al.
Hum. Mol. Genet. 8:1621-1630(1999) · UniProtKB (1) |
| Partial cloning and assignment of WNT6 to human chromosome band 2q35 by in situ hybridization. Rankin J., Strachan T., Lako M., Lindsay S.
Cytogenet. Cell Genet. 84:50-52(1999) · UniProtKB (1) |
| Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Sakuntabhai A., Ruiz-Perez V., Carter S., Jacobsen N., Burge S., Monk S., Smith M., Munro C.S., O'Donovan M.C., Craddock N. et al.
Nat. Genet. 21:271-277(1999) · UniProtKB (1) · Mapped (6) |
| Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. Lako M., Ramsden S., Campbell R.D., Strachan T.
J. Med. Genet. 36:119-124(1999) · UniProtKB (1) |
| A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Ross A.J., Ruiz-Perez V., Wang Y., Hagan D.M., Scherer S., Lynch S.A., Lindsay S., Custard E., Belloni E., Wilson D.I. et al.
Nat. Genet. 20:358-361(1998) |
| Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Morgan D., Turnpenny L., Goodship J., Dai W., Majumder K., Matthews L., Gardner A., Schuster G., Vien L., Harrison W. et al.
Nat. Genet. 20:149-156(1998) · UniProtKB (1) · Mapped (7) |
| Isolation, characterisation and embryonic expression of WNT11, a gene which maps to 11q13.5 and has possible roles in the development of skeleton, kidney and lung. Lako M., Strachan T., Bullen P., Wilson D.I., Robson S.C., Lindsay S.
Gene 219:101-110(1998) · UniProtKB (1) · Mapped (6) |
| A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Bashir R., Britton S., Strachan T., Keers S., Vafiadaki E., Lako M., Richard I., Marchand S., Bourg N., Argov Z. et al.
Nat. Genet. 20:37-42(1998) · UniProtKB (1) |
| Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. Evans D.G.R., Trueman L., Wallace A., Collins S., Strachan T.
J. Med. Genet. 35:450-455(1998) · UniProtKB (1) |
