Craniofacial genetics research group: publications
Below is a list of publications relating to craniofacial genetics research at Manchester.
2015
Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., ... Dixon, M. J. (2015).
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.American journal of medical genetics. Part A,
167A(3). DOI:
10.1002/ajmg.a.36896. Publication link:
101f9707-729f-49a2-b304-cb1e0f507f18 | PubMed:
25691407Petermann, P., Thier, K., Rahn, E., Rixon, F. J., Bloch, W., Özcelik, S., ... Knebel-Mörsdorf, D. (2015).
Entry mechanisms of herpes simplex virus 1 into murine epidermis: involvement of nectin-1 and herpesvirus entry mediator as cellular receptors.Journal of virology,
89(1). DOI:
10.1128/JVI.02917-14. Publication link:
cbf54a51-1436-48a0-8633-83b74eec6b2c | PubMed:
25320325
2014
Brookes, S. J., Barron, M. J., Boot-Handford, R., Kirkham, J., & Dixon, M. J. (2014).
Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate.
Human Molecular Genetics,
23(9), 2468-2480. [ddt642]. DOI:
10.1093/hmg/ddt642. Publication link:
83729229-afcf-41ce-8650-2ca87abfe684 | PubMed:
24362885Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., ... Fitzpatrick, D. R. (2014).
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Human Molecular Genetics,
23(10), 2569-2579. [ddt647]. DOI:
10.1093/hmg/ddt647. Publication link:
4d360fab-209b-4e49-aa69-a902be8e5a5e | PubMed:
24363063Richardson, R. J., Hammond, N. L., Coulombe, P. A., Saloranta, C., Nousiainen, H. O., Salonen, R., ... Dixon, M. J. (2014).
Periderm prevents pathological epithelial adhesions during embryogenesis.
Journal of Clinical Investigation,
124(9), 3891-3900. DOI:
10.1172/JCI71946. Publication link:
3a95d59d-aadb-4aa3-8217-e5d166e59121 | PubMed:
25133425
2013
Barlow, A. J., Dixon, J., Dixon, M., & Trainor, P. A. (2013).
Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
Human Molecular Genetics,
22(6), 1206-1217. DOI:
10.1093/hmg/dds528. Publication link:
43915075-4fe4-4dfd-b92b-884b850911e2 | PubMed:
23283078Ferone, G., Mollo, M. R., Thomason, H. A., Antonini, D., Zhou, H., Ambrosio, R., ... Missero, C. (2013).
P63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.
Human Molecular Genetics,
22(3), 531-543. [dds464]. DOI:
10.1093/hmg/dds464. Publication link:
03257191-4f14-49a8-a407-9b54e6dfa3a8 | PubMed:
23108156Iwata, J. I., Suzuki, A., Pelikan, R. C., Ho, T. V., Sanchez-Lara, P. A., Urata, M., ... Chai, Y. (2013).
Smad4-irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice.
Development,
140(6), 1220-1230. DOI:
10.1242/dev.089615. Publication link:
071dd4e9-9730-4918-9b97-341b0b9dcad8 | PubMed:
23406900Sheehan-Rooney, K., Swartz, M. E., Lovely, C. B., Dixon, M. J., & Eberhart, J. K. (2013).
Bmp and Shh Signaling Mediate the Expression of satb2 in the Pharyngeal Arches.
PLoS ONE,
8(3), [e59533]. DOI:
10.1371/journal.pone.0059533. Publication link:
248e7c00-bc98-4e16-8a1b-c3b3dc29915a | PubMed:
23555697Tai, G., Ranjzad, P., Marriage, F., Rehman, S., Denley, H., Dixon, J., ... Woolf, A. S. (2013).
Cytokeratin 15 marks basal epithelia in developing ureters and is upregulated in a subset of urothelial cell carcinomas.
PLoS ONE,
8(11), [e81167]. DOI:
10.1371/journal.pone.0081167. Publication link:
76c3402b-f664-465d-8c80-498a1f9092c2 | PubMed:
24260555
2012
Barlow, A. J., Dixon, J., Dixon, M. J., & Trainor, P. A. (2012).
Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
Human Molecular Genetics,
21(8), 1782-1793. [ddr611]. DOI:
10.1093/hmg/ddr611. Publication link:
ddecb8a6-089d-42cf-b945-5b518b1a54ad | PubMed:
22228097Blackburn, J., Ohazama, A., Kawasaki, K., Otsuka-Tanaka, Y., Liu, B., Honda, K., ... Sharpe, P. T. (2012).
The role of Irf6 in tooth epithelial invagination.
Developmental Biology,
365(1), 61-70. DOI:
10.1016/j.ydbio.2012.02.009. Publication link:
489097cd-4dd1-4cf9-8c5b-22957cd09c73 | PubMed:
22366192Ferone, G., Thomason, H. A., Antonini, D., De Rosa, L., Hu, B., Gemei, M., ... Missero, C. (2012).
Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
EMBO molecular medicine,
4(3), 192-205. DOI:
10.1002/emmm.201100199. Publication link:
9e923290-a4f1-444e-88e1-a4095cd3176b | PubMed:
22247000Hammond, N. L., Headon, D. J., & Dixon, M. J. (2012).
The cell cycle regulator protein 14-3-3 is essential for hair follicle integrity and epidermal homeostasis.
Journal of Investigative Dermatology,
132(6), 1543-1553. DOI:
10.1038/jid.2012.27. Publication link:
c17e8932-6190-497d-8877-e2e5f0ecb993 | PubMed:
22377760Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., ... Dixon, M. J. (2012).
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
American Journal of Human Genetics,
90(1), 69-75. DOI:
10.1016/j.ajhg.2011.11.013. Publication link:
c6dfb59f-cab1-49ab-847c-1eca7044146f | PubMed:
22197488Parry, D. A., Brookes, S. J., Logan, C. V., Poulter, J. A., El-Sayed, W., Al-Bahlani, S., ... Mighell, A. J. (2012).
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
American Journal of Human Genetics,
91(3), 565-571. DOI:
10.1016/j.ajhg.2012.07.020. Publication link:
e3b8c5ed-ed3c-4575-8677-aca6b596e8dd | PubMed:
22901946Sakai, D., Dixon, J., Dixon, M. J., & Trainor, P. A. (2012).
Mammalian neurogenesis requires treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
PLoS Genetics,
8(3), [e1002566]. DOI:
10.1371/journal.pgen.1002566. Publication link:
691fb3a8-9446-45a3-b02b-821c0f767a3c | PubMed:
22479190
2011
Brookes, S. J., Kingswell, N. J., Barron, M. J., Dixon, M. J., & Kirkham, J. (2011).
Is the 32-kDa fragment the functional enamelin unit in all species?European Journal of Oral Sciences,
119(1), 345-350. DOI:
10.1111/j.1600-0722.2011.00869.x. Publication link:
f85200f3-7dd6-4ef0-b4c8-f36f5222c68a | PubMed:
22243266Dauwerse, J. G., Dixon, J., Seland, S., Ruivenkamp, C. A. L., Van Haeringen, A., Hoefsloot, L. H., ... Wieczorek, D. (2011).
Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome.
Nature Genetics,
43(1), 20-22. DOI:
10.1038/ng.724. Publication link:
458d380d-0834-49e5-b6d8-30f912e330f1 | PubMed:
21131976Ferretti, E., Li, B., Zewdu, R., Wells, V., Hebert, J. M., Karner, C., ... Selleri, L. (2011).
A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis.
Developmental Cell,
21(4), 627-641. DOI:
10.1016/j.devcel.2011.08.005. Publication link:
ae77d587-b5eb-4383-a9f8-15fb6798e939 | PubMed:
21982646O'Sullivan, J., Bitu, C. C., Daly, S. B., Urquhart, J., Barron, M. J., Bhaskar, S. S., ... Dixon, M. J. (2011).
Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
American Journal of Human Genetics,
88(5), 616-620. DOI:
10.1016/j.ajhg.2011.04.005. Publication link:
7698048f-5e7b-4152-8568-37f61e25ee1e | PubMed:
21549343Restivo, G., Nguyen, B. C., Dziunycz, P., Ristorcelli, E., Ryan, R. J. H., Özuysal, Ö. Y., ... Dotto, G. P. (2011).
IRF6 is a mediator of Notch pro-differentiation and tumour suppressive function in keratinocytes.
EMBO Journal,
30(22), 4571-4585. DOI:
10.1038/emboj.2011.325. Publication link:
257d5a6b-9c04-49dc-9945-1646b58f14b6 | PubMed:
21909072
2010
Barron, M. J., Brookes, S. J., Kirkham, J., Shore, R. C., Hunt, C., Mironov, A., ... Dixon, M. J. (2010).
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.
Human Molecular Genetics,
19(7), 1230-1247. [ddq001]. DOI:
10.1093/hmg/ddq001. Publication link:
b58ffd52-8438-4d6e-8021-033484e49034 | PubMed:
20067920Richter, C. A., Amin, S., Linden, J., Dixon, J., Dixon, M. J., & Tucker, A. S. (2010).
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
Human Molecular Genetics,
19(8), 1551-1560. [ddq028]. DOI:
10.1093/hmg/ddq028. Publication link:
3151c73c-6604-4cce-a6bb-08567e80f378 | PubMed:
20106873Sheehan-Rooney, K., Pálinkášová, B., Eberhart, J. K., Dixon, M. J., & Palinkasova, B. (2010).
A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages.
Developmental Dynamics,
239(12), 3481-3491. DOI:
10.1002/dvdy.22483. Publication link:
9c738b66-386e-43b1-a050-c08304f0b044Thomason, H. A., Zhou, H., Kouwenhoven, E. N., Dotto, G. P., Restivo, G., Nguyen, B. C., ... Dixon, J. (2010).
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.
Journal of Clinical Investigation,
120(5), 1561-1569. DOI:
10.1172/JCI40266. Publication link:
df059b36-954a-4903-9941-ff243ee1aa08 | PubMed:
20424327
2009
de Lima, R. L. L. F., Hoper, S. A., Ghassibe, M., Cooper, M. E., Rorick, N. K., Kondo, S., ... Schutte, B. C. (2009).
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.Genetics in Medicine,
11(4), 241-247. DOI:
10.1097/GIM.0b013e318197a49a. Publication link:
c131578f-1e90-4b46-9cdb-866197633c04Heath, J., Langton, A. K., Hammond, N. L., Overbeek, P. A., Dixon, M. J., & Headon, D. J. (2009).
Hair follicles are required for optimal growth during lateral skin expansion.
Journal of Investigative Dermatology,
129(10), 2358-2364. DOI:
10.1038/jid.2009.102. Publication link:
1a1d8dd4-a3ae-48b5-a072-cca218ff681f | PubMed:
19387480Little, H. J., Rorick, N. K., Su, L. I., Baldock, C., Malhotra, S., Jowitt, T., ... Shore, P. (2009).
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Human Molecular Genetics,
18(3), 535-545. DOI:
10.1093/hmg/ddn381. Publication link:
1dc87498-97ae-4668-a8ef-a149e0065c67 | PubMed:
19036739Mossey, P. A., Little, J., Munger, R. G., Dixon, M. J., & Shaw, W. C. (2009).
Cleft lip and palate.
The Lancet,
374(9703), 1773-1785. DOI:
10.1016/S0140-6736(09)60695-4. Publication link:
721322bd-032c-42b8-a0d0-7823337c2471 | PubMed:
19747722Richardson, R. J., Dixon, J., Jiang, R., & Dixon, M. J. (2009).
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.
Human Molecular Genetics,
18(14), 2632-2642. DOI:
10.1093/hmg/ddp201. Publication link:
f62e1133-5b54-4f0d-81a5-0b4829c1b882 | PubMed:
19439425
