296 results on '"Murray, J.C."'
Search Results
2. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
- Author
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Strong, A., Rao, S., Hardenberg, S. von, Li, D., Cox, L.L., Lee, P.C., Zhang, L.Q., Awotoye, W., Diamond, T., Gold, Jessica, Gooch, C., Gowans, L.J.J., Hakonarson, H., Hing, A., Loomes, K., Martin, N., Marazita, M.L., Mononen, T., Piccoli, D., Pfundt, R.P., Raskin, S., Scherer, S.W., Sobriera, N., Vaccaro, C., Wang, Xiang, Watson, D., Weksberg, R., Bhoj, E., Murray, J.C., Lidral, A.C., Butali, A., Buckley, M.F., Roscioli, T., Koolen, D.A., Seaver, L.H., Prows, C.A., Stottmann, R.W., Cox, T.C., Strong, A., Rao, S., Hardenberg, S. von, Li, D., Cox, L.L., Lee, P.C., Zhang, L.Q., Awotoye, W., Diamond, T., Gold, Jessica, Gooch, C., Gowans, L.J.J., Hakonarson, H., Hing, A., Loomes, K., Martin, N., Marazita, M.L., Mononen, T., Piccoli, D., Pfundt, R.P., Raskin, S., Scherer, S.W., Sobriera, N., Vaccaro, C., Wang, Xiang, Watson, D., Weksberg, R., Bhoj, E., Murray, J.C., Lidral, A.C., Butali, A., Buckley, M.F., Roscioli, T., Koolen, D.A., Seaver, L.H., Prows, C.A., Stottmann, R.W., and Cox, T.C.
- Abstract
Item does not contain fulltext, AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOTL1 variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals with variants in AMOTL1 affecting amino acids 157-161, a functionally undefined but highly conserved region. Three individuals with AMOTL1 variants outside this region are also described who had variable presentations with orofacial clefting and multi-organ disease. Our case cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157-161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
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- 2023
3. 1346P A population-level prognostic score model for early acquired resistance to frontline anti-PD-(L)1 therapy in metastatic non-small cell lung cancer (NSCLC)
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Murray, J.C., Huang, Q., Hu, C., Curran, E., Wong, C., Glatz, L., Wang, T., Hasan, A., Villaruz, L., and Schoenfeld, A.
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- 2024
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4. Re-Evaluating Surgery and Re-Irradiation for Locally Recurrent Pediatric Ependymoma — a Multi-Institutional Study
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Mak, D.Y., primary, Laperriere, N.J., additional, Ramaswamy, V., additional, Bouffet, E., additional, Murray, J.C., additional, McNall-Knapp, R., additional, Bielamowicz, K., additional, Paulino, A.C., additional, Zaky, W., additional, McGovern, S.L., additional, Okcu, F., additional, Tabori, U., additional, Dirks, P.B., additional, Taylor, M.D., additional, Tsang, D.S.C., additional, and Bavle, A., additional
- Published
- 2021
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5. Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus
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Awotoye, W., primary, Comnick, C., additional, Pendleton, C., additional, Zeng, E., additional, Alade, A., additional, Mossey, P.A., additional, Gowans, L.J.J., additional, Eshete, M.A., additional, Adeyemo, W.L., additional, Naicker, T., additional, Adeleke, C., additional, Busch, T., additional, Li, M., additional, Petrin, A., additional, Olotu, J., additional, Hassan, M., additional, Pape, J., additional, Miller, S.E., additional, Donkor, P., additional, Anand, D., additional, Lachke, S.A., additional, Marazita, M.L., additional, Adeyemo, A.A., additional, Murray, J.C., additional, Albokhari, D., additional, Sobreira, N., additional, and Butali, A., additional
- Published
- 2021
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6. P2.11A.26 Prognostic Utility of Peripheral Myeloid Cells for Clinical Outcomes in Patients with NSCLC Treated with Cemiplimab
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Acosta, R.J., McIntyre, D.A.G., Murray, J.C., Anagnostou, V., Brahmer, J.R., Meisel, A., Sezer, A., Gogishvili, M., Melkadze, T., Baramidze, A., Makharadze, T., Seebach, F., Rietschel, P., Pouliot, J.-F., and Kim, Y.
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- 2024
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7. sj-pdf-1-jdr-10.1177_00220345211046614 – Supplemental material for Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus
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Awotoye, W., Comnick, C., Pendleton, C., Zeng, E., Alade, A., Mossey, P.A., Gowans, L.J.J., Eshete, M.A., Adeyemo, W.L., Naicker, T., Adeleke, C., Busch, T., Li, M., Petrin, A., Olotu, J., Hassan, M., Pape, J., Miller, S.E., Donkor, P., Anand, D., Lachke, S.A., Marazita, M.L., Adeyemo, A.A., Murray, J.C., Albokhari, D., Sobreira, N., and Butali, A.
- Subjects
110599 Dentistry not elsewhere classified ,FOS: Materials engineering ,FOS: Clinical medicine ,91299 Materials Engineering not elsewhere classified - Abstract
Supplemental material, sj-pdf-1-jdr-10.1177_00220345211046614 for Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus by W. Awotoye, C. Comnick, C. Pendleton, E. Zeng, A. Alade, P.A. Mossey, L.J.J. Gowans, M.A. Eshete, W.L. Adeyemo, T. Naicker, C. Adeleke, T. Busch, M. Li, A. Petrin, J. Olotu, M. Hassan, J. Pape, S.E. Miller, P. Donkor, D. Anand, S.A. Lachke, M.L. Marazita, A.A. Adeyemo, J.C. Murray, D. Albokhari, N. Sobreira and A. Butali in Journal of Dental Research
- Published
- 2021
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8. Plot 3, Land adjacent to the Glen, Meikle Wartle, Aberdeenshire
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
A watching brief over the footprint of a new house. No archaeological finds or features were evident.
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- 2021
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9. Corsindae House, North Wing, Midmar, Aberdeenshire
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
Standing building survey of 19th-century service wing of Corsindae House, Midmar. Surviving details of 19th-century laundry.
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- 2021
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10. Affrusk Steading, Banchory, Aberdeenshire
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
Standing building survey of U-plan 19th-century farmstead.
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- 2021
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11. Croft Foddie, Strachan, Aberdeenshire
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
A standing building survey of a 19th-century farmstead, workshop and water mill.
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- 2021
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12. Clefting, Dental, and Craniofacial Syndromes
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Murray, J.C., primary and Marazita, M.L., additional
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- 2014
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13. Tillyshogle, Echt, Aberdeenshire
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
Early 19th-century U-plan steading with cattle byres, a stable for three horses and a cart bay. In the early 20th century, a motor-powered mill was built across the open side of the court, replacing an earlier freestanding water mill which is shown on maps to 1899.
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- 2020
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14. Wester Marchfield, Llanbryde, Moray
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
A metal detecting survey and an archaeological evaluation were carried out prior to quarrying. The survey recovered 18th- to 20th-century domestic and agricultural artefacts and ammunition from target shooting. No archaeological features or finds were evident during the evaluation.
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- 2020
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15. Dubston Steading, Finzean, Aberdeenshire
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Murray, H.K. and Murray, J.C.
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Archaeology ,Grey Literature - Abstract
A standing building survey was undertaken on a large quadrangular steading of mid 19th-century date. Limited internal features remained.
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- 2020
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16. 11 Old Market Place, Banff, Aberdeenshire
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
A survey was undertaken of a small townhouse prior to demolition and a watching brief was undertaken during demolition and during the machine excavation for a new yard wall along the street frontage. It is possible that this street frontage was built up during the 18th century, but no 18th-century structural details could be identified. The house was 2 ½ storeys high with a projecting extension in the centre of the back wall containing the stairwell. The windows and doors had been replaced and the interior had been restructured when the house was used as a bed and breakfast and no original details survived. The watching brief showed that the walls were built directly on shingle. No traces of earlier structures or artefacts were observed.
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- 2020
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17. Lagavaich, Glenlivet, Ballindalloch, Moray
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
A survey was undertaken of a small early- or mid-19th century farmhouse, prior to demolition. It was a 1 ½ storey stone cottage with a slate roof. A bothy had been added at right-angles to form an L-plan building.
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- 2020
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18. Upper Leochel, Aberdeenshire
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
An archaeological watching brief and metal detecting survey were undertaken on the site of a proposed new dwelling. No archaeological finds or features were evident.
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- 2020
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19. Clachbrake, Archiestown, Aberlour, Moray
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
19th-century T-plan steading comprising a watermill and a byre containing double tied-cow stalls for 12 cattle and a stable for three work horses. The original threshing machine remained, with maker's name 'Morrison Drummuir'.
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- 2020
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20. Mains of Meldrum, Oldmeldrum, Aberdeenshire
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Murray, H.K. and Murray, J.C.
- Subjects
Archaeology ,Grey Literature - Abstract
A historic building survey was required prior to development. The site comprised a U-plan steading, a small cottage and a semi-circular kennels block. An estate plan of 1780 shows the main steading was built in the late 18th century. A mill, byre, stable and cart bays can be identified but only the outer walls survive. The elegant kennel block appears to have been built in the early 19th century.
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- 2020
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21. Cairnfechil steading, Udny, Aberdeenshire
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Murray, J.C. and Murray, H.K.
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Archaeology ,Grey Literature - Abstract
This large quadrangular early 19th-century steading had been much altered during its use as a dairy since the 1950s. However, a fine roadside range survived, with a central pended arch flanked on either side by cart bays and stables.
- Published
- 2020
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22. Culmellie, Cushnie, Muir of Fowlis, Aberdeenshire
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Murray, J.C. and Murray, H.K.
- Subjects
Archaeology ,Grey Literature - Abstract
Culmellie was a large E-plan steading built in the last quarter of the 19th century. The mill and barn appear to have been in the central range with cattle byres on either side. A bothy and a probable stable were built at the ends of the two open courts. More recently one of the courts had been roofed over and an additional building constructed abutting the E range. Few original details survived.
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- 2020
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23. Plot 1, Land adjacent to allottments, Fetterangus, Aberdeenshire
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Murray, J.C. and Murray, H.K.
- Subjects
Archaeology ,Grey Literature - Abstract
A watching brief was undertaken over the site of a new dwelling house. Three small undatable burnt spreads appeared to represent short-lived open fires. A single flint flake was found nearby.
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- 2020
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24. Gateside steading, Strachan, Aberdeenshire
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Murray, J.C. and Murray, H.K.
- Subjects
Archaeology ,Grey Literature - Abstract
Gateside was a mid-19th-century U-plan farmstead with later 19th-century additions. It had been infilled and considerably adapted throughout the 20th century and few original features survived.
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- 2020
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25. mAINS OF rOTHMAISE, cOLPY, aBERDEENSHIRE
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Murray, H.K. and Murray, J.C.
- Subjects
Archaeology ,Grey Literature - Abstract
Mains of Rothmaise was a large 19th-century quadrangular steading around an open court. Documentary evidence suggests that some of the farmstead may have been built in the late 18th century. Few original details survived.
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- 2020
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26. Hillhead Chain Radar Station, Memsie, Aberdeenshire
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Murray, J.C. and Murray, H.K.
- Subjects
Archaeology ,Grey Literature - Abstract
A historic building survey and a related metal detecting survey were undertaken prior to demolition and the construction of a dwelling. The hut, near the W perimeter of the site, may have been a guard house. It is of brick with concrete render. The roof, which is missing, appears to have been asbestos. It is 15.5 x 6.5m (50 x 21 feet). To the W it comprises two office or guard rooms with large doors opening to the approach road. A smaller door to the E opens to three accommodation rooms, a toilet and shower. The metal detecting survey revealed roof nails, door fittings and what appeared to be a metal waste pipe leading to what appeared to be a brick-lined hollow, possibly a cess pit.
- Published
- 2020
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27. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
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Osoegawa, K., Vessere, G.M., Utami, K.H., Mansilla, M.A., Johnson, M.K., Riley, B.M., L'Heureux, J., Pfundt, R., Staaf, J., van der Vliet, W.A., Lidral, A.C., Schoenmakers, E.F.P.M., Borg, A., Schutte, B.C., Lammer, E.J., Murray, J.C., and de Jong, P.J.
- Subjects
Cleft lip -- Genetic aspects ,Cleft palate -- Genetic aspects ,DNA microarrays -- Usage ,DNA microarrays -- Research ,Health - Published
- 2008
28. TBX22 mutations are a frequent cause of cleft palate
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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, George Edward, and Stanier, P.
- Abstract
J Med Genet 2004;41:68-74. doi: 10.1136/jmg.2003.010868 Cleft lip and/or cleft palate is among the most frequent birth defect seen in humans, with a reported prevalence of 1 in 700 births [...]
- Published
- 2004
29. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. (Original Article)
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Jezewski, P.A., Vieira, A.R., Nishimura, C., Ludwig, B., Johnson, M., O'Brien, S.E., Daack-Hirsch, S., Schultz, R.E., Weber, A., Nepomucena, B., Romitti, P.A., Christensen, K., Orioli, I.M., Castilla, E.E., Machida, J., Natsume, N., and Murray, J.C.
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Physiological aspects ,Research ,Genetic aspects ,Cleft palate -- Genetic aspects -- Research ,Gene mutation -- Physiological aspects -- Research -- Genetic aspects ,Human population genetics -- Research -- Genetic aspects -- Physiological aspects ,Cleft lip -- Genetic aspects -- Research ,Gene mutations -- Physiological aspects -- Research -- Genetic aspects - Abstract
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human [ink age and [...]
- Published
- 2003
30. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. (Letter to JMG)
- Author
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Watanabe, Y., Benson, D.W., Yano, S., Akagi, T., Yoshino, M., and Murray, J.C.
- Subjects
Research ,Genetic aspects ,Health aspects ,Medical genetics -- Research -- Health aspects ,Heart diseases -- Genetic aspects -- Research ,Gene mutation -- Health aspects -- Research -- Genetic aspects ,Familial diseases -- Genetic aspects -- Research ,Genetic disorders -- Research -- Genetic aspects ,Gene mutations -- Health aspects -- Research -- Genetic aspects - Abstract
Recently, heterozygous mutations of human NKX2.5 were identified in patients with congenital heart disease. (1 2) The most common phenotypes were progressive atriaventricular conduction delays (AV block) and secundum atrial [...]
- Published
- 2002
31. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. (Original Article)
- Author
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Barrow, L.L., Bokhoven, H. van, Daack-Hirsch, S., Andersen, T., Beersum, S.E.C. van, Gorlin, R., and Murray, J.C.
- Subjects
Research ,Birth defects -- Research ,Genetic disorders -- Research ,EEC syndrome -- Research - Abstract
EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygaus p63 mutations [...]
- Published
- 2002
32. Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4
- Author
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Stadler, H.S., Padanilam, B.J., Buetow,K., Murray, J.C., and Solursh, M.
- Subjects
Homeobox genes -- Identification and classification ,Science and technology - Abstract
A homeoboxgene that had only 57%-65% amino acid identity with previously identified homeodomains was isolated when a degenerate oligonucleotide probe based on the conserved third helix of homeobox genes was used to screen a human craniofacialcDNA library. The gene, called H6, was mapped to the 4p16.1 region of human chromosome 4. Identity comparisons showed closest identity of H6 to the Nk class of homeobox genes in Drosophila melanogaster. The findings suggest a rolefor homeobox genes in mammalian development.
- Published
- 1992
33. Drumlassie, Tornaveen, Torphins, Aberdeenshire
- Author
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Murray, J.C. and Murray, H.K.
- Subjects
Archaeology ,Grey Literature - Abstract
A survey was undertaken prior to the partial demolition of a house and small farmstead. An L-plan byre with a bothy at one end appeared to be of mid-19th-century date. There were 20 tied-cow stalls. Another L-plan building included a stable for two work horses with the trevis surviving.
- Published
- 2019
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34. CHANGES IN THE COMPLIANCE OF THE MURINE COLON FOLLOWING X-IRRADIATION
- Author
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MARTIN, S.G., primary and MURRAY, J.C., additional
- Published
- 1991
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35. Cellular distribution of nonionic micelles
- Author
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Moghimi, S.M., Hunter, A.C., Murray, J.C., and Szewczyk, A.
- Abstract
IN THEIR REPORT 'MICELLAR NANOCONTAINERS distribute to defined cytoplasmic organelles' (25 April, p. 615), R. Savic et al. studied the intracellular distribution of endocytosed poly[(caprolactone).sub.23]-poly[(ethylene oxide).sub.45] (PCL-PEO) micelles in PC12 [...]
- Published
- 2004
36. Deletions and loss-of-function variants in TP63 associated with orofacial clefting
- Author
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Khandelwal, K., Boogaard, M. van den, Mehrem, S.L., Gebel, J., Fagerberg, C., Beusekom, E. van, Binsbergen, E. van, Topaloglu, O., Steehouwer, M., Gilissen, C., Ishorst, N., Rooij, I.A.L.M. van, Roeleveld, N., Christensen, K., Schoenaers, J., Berge, S.J., Murray, J.C., Hens, G., Devriendt, K., Ludwig, K.U., Mangold, E., Hoischen, A., Zhou, H., Dotsch, V., Carels, C.E.L., Bokhoven, H. van, Khandelwal, K., Boogaard, M. van den, Mehrem, S.L., Gebel, J., Fagerberg, C., Beusekom, E. van, Binsbergen, E. van, Topaloglu, O., Steehouwer, M., Gilissen, C., Ishorst, N., Rooij, I.A.L.M. van, Roeleveld, N., Christensen, K., Schoenaers, J., Berge, S.J., Murray, J.C., Hens, G., Devriendt, K., Ludwig, K.U., Mangold, E., Hoischen, A., Zhou, H., Dotsch, V., Carels, C.E.L., and Bokhoven, H. van
- Abstract
Contains fulltext : 204872.pdf (publisher's version ) (Closed access), We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analysis. Subsequently, we analyzed TP63 in a cohort of 1072 individuals affected with OFC and 706 population-based controls using molecular inversion probes (MIPs). We identified partial deletions of TP63 in individuals from three families affected with OFC. In the OFC cohort, we identified several TP63 variants predicting to cause loss-of-function alleles, including a frameshift variant c.569_576del (p.(Ala190Aspfs*5)) and a nonsense variant c.997C>T (p.(Gln333*)) that introduces a premature stop codon in the DNA-binding domain. In addition, we identified the first missense variants in the oligomerization domain c.1213G>A (p.(Val405Met)), which occurred in individuals with OFC. This variant was shown to abrogate oligomerization of mutant p63 protein into oligomeric complexes, and therefore likely represents a loss-of-function allele rather than a dominant-negative. All of these variants were inherited from an unaffected parent, suggesting reduced penetrance of such loss-of-function alleles. Our data indicate that loss-of-function alleles in TP63 can also give rise to OFC as the main phenotype. We have uncovered the dosage-dependent functions of p63, which were previously rejected.
- Published
- 2019
37. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
- Author
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Cox, T.C., Lidral, A.C., McCoy, J.C., Liu, H., Cox, L.L., Zhu, Y, Anderson, R.D., Uribe, L.M. Moreno, Anand, D., Deng, M., Richter, C.T., Nidey, N.L., Standley, J.M., Blue, E.E., Chong, J.X., Smith, J.D., Kirk, E.P., Venselaar, H., Krahn, K.N., Bokhoven, H. van, Zhou, H., Cornell, R.A., Glass, I.A., Bamshad, M.J., Nickerson, D.A., Murray, J.C., Lachke, S.A., Thompson, T.B., Buckley, M.F., Roscioli, T., Cox, T.C., Lidral, A.C., McCoy, J.C., Liu, H., Cox, L.L., Zhu, Y, Anderson, R.D., Uribe, L.M. Moreno, Anand, D., Deng, M., Richter, C.T., Nidey, N.L., Standley, J.M., Blue, E.E., Chong, J.X., Smith, J.D., Kirk, E.P., Venselaar, H., Krahn, K.N., Bokhoven, H. van, Zhou, H., Cornell, R.A., Glass, I.A., Bamshad, M.J., Nickerson, D.A., Murray, J.C., Lachke, S.A., Thompson, T.B., Buckley, M.F., and Roscioli, T.
- Abstract
Contains fulltext : 208676.pdf (publisher's version ) (Closed access), Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In the remaining 30%, CL/P is associated with multisystem phenotypes or clinically recognizable syndromes, many with a monogenic basis. Here we report the identification, via exome sequencing, of likely pathogenic variants in two genes that encode interacting proteins previously only linked to orofacial clefting in mouse models. A variant in GDF11 (encoding growth differentiation factor 11), predicting a p.(Arg298Gln) substitution at the Furin protease cleavage site, was identified in one family that segregated with CL/P and both rib and vertebral hypersegmentation, mirroring that seen in Gdf11 knockout mice. In the second family in which CL/P was the only phenotype, a mutation in FST (encoding the GDF11 antagonist, Follistatin) was identified that is predicted to result in a p.(Cys56Tyr) substitution in the region that binds GDF11. Functional assays demonstrated a significant impact of the specific mutated amino acids on FST and GDF11 function and, together with embryonic expression data, provide strong evidence for the importance of GDF11 and Follistatin in the regulation of human orofacial development.
- Published
- 2019
38. Gene-transfer systems for human endothelial cells
- Author
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Martin, S.G and Murray, J.C
- Published
- 2000
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39. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
- Author
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Beaumont, R.N. (Robin N.), Warrington, N.M. (Nicole), Cavadino, A. (Alana), Tyrrell, A.W.R., Nodzenski, M. (Michael), Horikoshi, M. (Momoko), Geller, F. (Frank), Myhre, R. (Ronny), Richmond, R.C. (Rebecca C.), Paternoster, L. (Lavinia), Bradfield, J.P. (Jonathan), Kreiner-Møller, E. (Eskil), Huikari, V. (Ville), Metrustry, S. (Sarah), Lunetta, K.L. (Kathryn), Painter, J.N. (Jodie N.), Hottenga, J.J. (Jouke Jan), Allard, C. (Catherine), Barton, S.J. (Sheila), Espinosa, A. (Ana), Marsh, J.A. (Julie), Potter, C. (Catherine), Zhang, G. (Ge), Ang, W.Q. (Wei), Berry, D. (Diane), Bouchard, L. (Luigi), Das, S. (Shikta), Hakonarson, H. (Hakon), Heikkinen, J. (Jani), Helgeland, Ø. (Øyvind), Hocher, B. (Berthold), Hofman, A. (Albert), Inskip, H.M. (Hazel), Jones, S.E. (Samuel E.), Kogevinas, M. (Manolis), Lind, P.A. (Penelope), Marullo, L. (Letizia), Medland, S.E. (Sarah), Murray, A. (Anna), Murray, J.C. (Jeffrey C.), Njølstad, P.R. (Pa l R.), Nohr, C. (Christian), Reichetzeder, C. (Christoph), Ring, S.M. (Susan), Ruth, K.S. (Katherine S.), Santa-Marina, L. (Loreto), Scholtens, D.M. (Denise M.), Sebert, S. (Sylvain), Sengpiel, V. (Verena), Tuke, M.A. (Marcus A.), Vaudel, M. (Marc), Weedon, M.N. (Michael), Willemsen, G.A.H.M. (Gonneke), Wood, A.R. (Andrew R.), Yaghootkar, H. (Hanieh), Muglia, L.J. (Louis J.), Bartels, M. (Meike), Relton, C.L. (Caroline), Pennell, C.E. (Craig), Chatzi, L. (Leda), Estivill, X. (Xavier), Holloway, J.W. (John W.), Boomsma, D.I. (Dorret), Montgomery, G.W. (Grant W.), Murabito, J. (Joanne), Spector, T.D. (Timothy), Power, C. (Christine), Järvelin, M.-R. (Marjo-Ritta), Bisgaard, H. (Hans), Grant, S.F.A. (Struan F.A.), Sørensen, T.I.A. (Thorkild I.A.), Jaddoe, V.W. (Vincent W.), Jacobsson, B. (Bo), Melbye, M. (Mads), McCarthy, M.I. (Mark I.), Hattersley, A.T. (Andrew), Hayes, M.G. (M. Geoffrey), Frayling, T.M. (Timothy), Hivert, M.-F. (Marie-France), Felix, J.F. (Janine), Hyppönen, E. (Elina), Lowe, W.L. (William L.), Evans, D.M. (David M.), Lawlor, D.A. (Debbie A.), Feenstra, B. (Bjarke), Freathy, R.M. (Rachel), Beaumont, R.N. (Robin N.), Warrington, N.M. (Nicole), Cavadino, A. (Alana), Tyrrell, A.W.R., Nodzenski, M. (Michael), Horikoshi, M. (Momoko), Geller, F. (Frank), Myhre, R. (Ronny), Richmond, R.C. (Rebecca C.), Paternoster, L. (Lavinia), Bradfield, J.P. (Jonathan), Kreiner-Møller, E. (Eskil), Huikari, V. (Ville), Metrustry, S. (Sarah), Lunetta, K.L. (Kathryn), Painter, J.N. (Jodie N.), Hottenga, J.J. (Jouke Jan), Allard, C. (Catherine), Barton, S.J. (Sheila), Espinosa, A. (Ana), Marsh, J.A. (Julie), Potter, C. (Catherine), Zhang, G. (Ge), Ang, W.Q. (Wei), Berry, D. (Diane), Bouchard, L. (Luigi), Das, S. (Shikta), Hakonarson, H. (Hakon), Heikkinen, J. (Jani), Helgeland, Ø. (Øyvind), Hocher, B. (Berthold), Hofman, A. (Albert), Inskip, H.M. (Hazel), Jones, S.E. (Samuel E.), Kogevinas, M. (Manolis), Lind, P.A. (Penelope), Marullo, L. (Letizia), Medland, S.E. (Sarah), Murray, A. (Anna), Murray, J.C. (Jeffrey C.), Njølstad, P.R. (Pa l R.), Nohr, C. (Christian), Reichetzeder, C. (Christoph), Ring, S.M. (Susan), Ruth, K.S. (Katherine S.), Santa-Marina, L. (Loreto), Scholtens, D.M. (Denise M.), Sebert, S. (Sylvain), Sengpiel, V. (Verena), Tuke, M.A. (Marcus A.), Vaudel, M. (Marc), Weedon, M.N. (Michael), Willemsen, G.A.H.M. (Gonneke), Wood, A.R. (Andrew R.), Yaghootkar, H. (Hanieh), Muglia, L.J. (Louis J.), Bartels, M. (Meike), Relton, C.L. (Caroline), Pennell, C.E. (Craig), Chatzi, L. (Leda), Estivill, X. (Xavier), Holloway, J.W. (John W.), Boomsma, D.I. (Dorret), Montgomery, G.W. (Grant W.), Murabito, J. (Joanne), Spector, T.D. (Timothy), Power, C. (Christine), Järvelin, M.-R. (Marjo-Ritta), Bisgaard, H. (Hans), Grant, S.F.A. (Struan F.A.), Sørensen, T.I.A. (Thorkild I.A.), Jaddoe, V.W. (Vincent W.), Jacobsson, B. (Bo), Melbye, M. (Mads), McCarthy, M.I. (Mark I.), Hattersley, A.T. (Andrew), Hayes, M.G. (M. Geoffrey), Frayling, T.M. (Timothy), Hivert, M.-F. (Marie-France), Felix, J.F. (Janine), Hyppönen, E. (Elina), Lowe, W.L. (William L.), Evans, D.M. (David M.), Lawlor, D.A. (Debbie A.), Feenstra, B. (Bjarke), and Freathy, R.M. (Rachel)
- Abstract
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of Eu
- Published
- 2018
- Full Text
- View/download PDF
40. Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate
- Author
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Eshete, M.A., primary, Liu, H., additional, Li, M., additional, Adeyemo, W.L., additional, Gowans, L.J.J, additional, Mossey, P.A., additional, Busch, T., additional, Deressa, W., additional, Donkor, P., additional, Olaitan, P.B., additional, Aregbesola, B.S., additional, Braimah, R.O., additional, Oseni, G.O., additional, Oginni, F., additional, Audu, R., additional, Onwuamah, C., additional, James, O., additional, Augustine-Akpan, E., additional, Rahman, L.A., additional, Ogunlewe, M.O., additional, Arthur, F.K.N., additional, Bello, S.A., additional, Agbenorku, P., additional, Twumasi, P., additional, Abate, F., additional, Hailu, T., additional, Demissie, Y., additional, Hailu, A., additional, Plange-Rhule, G., additional, Obiri-Yeboah, S., additional, Dunnwald, M.M., additional, Gravem, P.E., additional, Marazita, M.L., additional, Adeyemo, A.A., additional, Murray, J.C., additional, Cornell, R.A., additional, and Butali, A., additional
- Published
- 2017
- Full Text
- View/download PDF
41. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
- Author
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Lansdon, L.A., primary, Bernabe, H.V., additional, Nidey, N., additional, Standley, J., additional, Schnieders, M.J., additional, and Murray, J.C., additional
- Published
- 2017
- Full Text
- View/download PDF
42. Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate
- Author
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Parada-Sanchez, M.T., primary, Chu, E.Y., additional, Cox, L.L., additional, Undurty, S.S., additional, Standley, J.M., additional, Murray, J.C., additional, and Cox, T.C., additional
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- 2017
- Full Text
- View/download PDF
43. Lateralized Eye Use Towards Video Stimuli in Bearded Dragons (Pogona vitticeps)
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Frohnwieser, A., primary, Pike, T.W., additional, Murray, J.C., additional, and Wilkinson, A., additional
- Published
- 2017
- Full Text
- View/download PDF
44. A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts
- Author
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Moreno Uribe, L.M., primary, Fomina, T., additional, Munger, R.G., additional, Romitti, P.A., additional, Jenkins, M.M., additional, Gjessing, H.K., additional, Gjerdevik, M., additional, Christensen, K., additional, Wilcox, A.J., additional, Murray, J.C., additional, Lie, R.T., additional, and Wehby, G.L., additional
- Published
- 2017
- Full Text
- View/download PDF
45. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index
- Author
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Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), Montgomery, G.W. (G. W.), Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), and Montgomery, G.W. (G. W.)
- Abstract
The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity. As such, loci involved in body weight regulation may also be relevant for AN and vice versa. Our primary analysis comprised a cross-trait analysis of the 1000 single-nucleotide polymorphisms (SNPs) with the lowest P-values in a genome-wide association meta-analysis (GWAMA) of AN (GCAN) for evidence of association in the largest published GWAMA for BMI (GIANT). Subsequently we performed sex-stratified analyses for these 1000 SNPs. Functional ex vivo studies on four genes ensued. Lastly, a look-up of GWAMA-derived BMI-related loci was performed in the AN GWAMA. We detected significant associations (P-values <5 × 10-5, Bonferroni-corrected P<0.05) for nine SNP alleles at three independent loci. Interestingly, all AN susceptibility alleles were consistently associated with increased BMI. None of the genes (chr. 10: CTBP2, chr. 19: CCNE1, chr. 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. Sex-stratified analyses revealed that the strongest BMI signal originated predominantly from females (chr. 10 rs1561589; Poverall: 2.47 × 10-06/Pfemales: 3.45 × 10-07/Pmales: 0.043). Functional ex vivo studies in mice revealed reduced hypothalamic expression of Ctbp2 and Nbeal1 after fasting. Hypothalamic expression of Ctbp2 was increased in diet-induced obese (DIO) mice as compared with age-matched lean controls. We observed no evidence for associations for the look-up of BMI-related loci in the AN GWAMA. A cross-trait analysis of AN and BMI loci revealed variants at three chromosomal loci with potential joint impact. The chromosome 10 locus is particularly promising given that the associa
- Published
- 2017
- Full Text
- View/download PDF
46. Application of kinetic PCR and molecular beacon technology to pooled sample and high-sensitivity analysis of the MTHFR gene
- Author
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Shi, M., Dagle, J., Caprau, D., and Murray, J.C.
- Subjects
Human genetics -- Research ,Genetic disorders -- Research ,Cardiovascular diseases -- Genetic aspects ,Birth defects -- Genetic aspects ,Biological sciences - Published
- 2001
47. Mutation and deletion analysis of the Van der Woude syndrome locus at chromosome 1q32-q41
- Author
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Schutte, B.C., Watanabe, Y., Bjork, B.C., Howard, E.L., Hoper, S.A., Malik, M.I., Fang, M.M., Hemerson, P.I., Dixon, M.J., and Murray, J.C.
- Subjects
Genetic disorders -- Research ,Cleft lip -- Genetic aspects ,Cleft palate -- Genetic aspects ,Chromosome deletion -- Research ,Gene mutations -- Research ,Biological sciences - Published
- 2001
48. Heterozygous PITX2/RIEG1 gene deletion associated with GH deficiency in Rieger syndrome
- Author
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Bitoun, P., Machinis, K., Semina, E., Jesuran-Perelroizen, M., Feingold, M., Odent, S., Le Marec, B., Dastot, F., Gaudelus, J., Murray, J.C., Amselam, S., and Cacheux, V.
- Subjects
Genetic disorders -- Research ,Genetic transcription -- Regulation ,Biological sciences - Published
- 2001
49. A new phenotype of familial visceral inversus/atrial fibrillation/ASD caused by a novel 7bp deletion in the CSX/NKX2.5 gene
- Author
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Watanabe, Y., Yano, S., Akagi, T., Yoshino, M., and Murray, J.C.
- Subjects
Human genetics -- Research ,Atrial septal defects -- Genetic aspects ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
50. TGFA is a genetic modifier of Van der Woude Syndrome
- Author
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Zucchero, T.M., Schutte, B.C., Daack-Hirsch, S., and Murray, J.C.
- Subjects
Cleft lip -- Genetic aspects ,Cleft palate -- Genetic aspects ,Human genetics -- Research ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
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