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Items: 1 to 50 of 87

1.

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C.

Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22.

2.

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL.

Am J Med Genet A. 2017 Jun;173(6):1698-1704. doi: 10.1002/ajmg.a.38215. Epub 2017 Apr 19.

PMID:
28422394
3.

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.

De Angelis JE, Lagendijk AK, Chen H, Tromp A, Bower NI, Tunny KA, Brooks AJ, Bakkers J, Francois M, Yap AS, Simons C, Wicking C, Hogan BM, Smith KA.

Dev Cell. 2017 Feb 27;40(4):421. doi: 10.1016/j.devcel.2017.02.005. No abstract available.

4.

Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.

De Angelis JE, Lagendijk AK, Chen H, Tromp A, Bower NI, Tunny KA, Brooks AJ, Bakkers J, Francois M, Yap AS, Simons C, Wicking C, Hogan BM, Smith KA.

Dev Cell. 2017 Jan 23;40(2):123-136. doi: 10.1016/j.devcel.2016.12.017.

5.

INPP5E regulates phosphoinositide-dependent cilia transition zone function.

Dyson JM, Conduit SE, Feeney SJ, Hakim S, DiTommaso T, Fulcher AJ, Sriratana A, Ramm G, Horan KA, Gurung R, Wicking C, Smyth I, Mitchell CA.

J Cell Biol. 2017 Jan 2;216(1):247-263. doi: 10.1083/jcb.201511055. Epub 2016 Dec 20.

6.

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C.

Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.

7.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL.

Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6.

PMID:
27038415
8.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270. No abstract available.

9.

Unmasking the ciliopathies: craniofacial defects and the primary cilium.

Cortés CR, Metzis V, Wicking C.

Wiley Interdiscip Rev Dev Biol. 2015 Nov-Dec;4(6):637-53. doi: 10.1002/wdev.199. Epub 2015 Jul 14. Review.

PMID:
26173831
10.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270.

11.

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.

McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL.

Clin Genet. 2015 Dec;88(6):550-7. doi: 10.1111/cge.12550. Epub 2015 Feb 17.

PMID:
25492405
12.

Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice.

Wainwright EN, Svingen T, Ng ET, Wicking C, Koopman P.

Dev Biol. 2014 Nov 15;395(2):342-54. doi: 10.1016/j.ydbio.2014.08.037. Epub 2014 Sep 16.

13.

Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs.

Lopez-Rios J, Duchesne A, Speziale D, Andrey G, Peterson KA, Germann P, Unal E, Liu J, Floriot S, Barbey S, Gallard Y, Müller-Gerbl M, Courtney AD, Klopp C, Rodriguez S, Ivanek R, Beisel C, Wicking C, Iber D, Robert B, McMahon AP, Duboule D, Zeller R.

Nature. 2014 Jul 3;511(7507):46-51. doi: 10.1038/nature13289. Epub 2014 Jun 18.

PMID:
24990743
14.

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K, Duncan EL, Mitchison HM.

Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

15.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C.

Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1.

16.

Patched1 is required in neural crest cells for the prevention of orofacial clefts.

Metzis V, Courtney AD, Kerr MC, Ferguson C, Rondón Galeano MC, Parton RG, Wainwright BJ, Wicking C.

Hum Mol Genet. 2013 Dec 15;22(24):5026-35. doi: 10.1093/hmg/ddt353. Epub 2013 Jul 29.

PMID:
23900075
17.

Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.

Shi W, Bain AL, Schwer B, Al-Ejeh F, Smith C, Wong L, Chai H, Miranda MS, Ho U, Kawaguchi M, Miura Y, Finnie JW, Wall M, Heierhorst J, Wicking C, Spring KJ, Alt FW, Khanna KK.

PLoS Genet. 2013;9(2):e1003298. doi: 10.1371/journal.pgen.1003298. Epub 2013 Feb 7.

18.

A genome-wide association study identifies five loci influencing facial morphology in Europeans.

Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, Wollstein A, Lao O, de Bruijne M, Ikram MA, van der Lugt A, Rivadeneira F, Uitterlinden AG, Hofman A, Niessen WJ, Homuth G, de Zubicaray G, McMahon KL, Thompson PM, Daboul A, Puls R, Hegenscheid K, Bevan L, Pausova Z, Medland SE, Montgomery GW, Wright MJ, Wicking C, Boehringer S, Spector TD, Paus T, Martin NG, Biffar R, Kayser M.

PLoS Genet. 2012 Sep;8(9):e1002932. doi: 10.1371/journal.pgen.1002932. Epub 2012 Sep 13.

19.

Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.

Wade C, Brinas I, Welfare M, Wicking C, Farlie PG.

Dev Biol. 2012 Oct 1;370(1):145-53. doi: 10.1016/j.ydbio.2012.07.025. Epub 2012 Aug 1.

20.

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking.

Liem KF Jr, Ashe A, He M, Satir P, Moran J, Beier D, Wicking C, Anderson KV.

J Cell Biol. 2012 Jun 11;197(6):789-800. doi: 10.1083/jcb.201110049.

21.

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.

Ashe A, Butterfield NC, Town L, Courtney AD, Cooper AN, Ferguson C, Barry R, Olsson F, Liem KF Jr, Parton RG, Wainwright BJ, Anderson KV, Whitelaw E, Wicking C.

Hum Mol Genet. 2012 Apr 15;21(8):1808-23. doi: 10.1093/hmg/ddr613. Epub 2012 Jan 6.

22.

Tmem26 is dynamically expressed during palate and limb development but is not required for embryonic survival.

Town L, McGlinn E, Davidson TL, Browne CM, Chawengsaksophak K, Koopman P, Richman JM, Wicking C.

PLoS One. 2011;6(9):e25228. doi: 10.1371/journal.pone.0025228. Epub 2011 Sep 29.

23.

Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development.

Smith KA, Lagendijk AK, Courtney AD, Chen H, Paterson S, Hogan BM, Wicking C, Bakkers J.

Development. 2011 Oct;138(19):4193-8. doi: 10.1242/dev.065375.

24.

Embryos direct the traffic.

Wicking C.

Traffic. 2010 Oct;11(10):1263-4. doi: 10.1111/j.1600-0854.2010.01105.x. No abstract available.

25.

The molecular regulation of vertebrate limb patterning.

Butterfield NC, McGlinn E, Wicking C.

Curr Top Dev Biol. 2010;90:319-41. doi: 10.1016/S0070-2153(10)90009-4.

PMID:
20691854
26.

Inactivation of Patched1 in the mouse limb has novel inhibitory effects on the chondrogenic program.

Bruce SJ, Butterfield NC, Metzis V, Town L, McGlinn E, Wicking C.

J Biol Chem. 2010 Sep 3;285(36):27967-81. doi: 10.1074/jbc.M109.091785. Epub 2010 Jun 24.

27.

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.

Johanson HC, Chen W, Wicking C, Sturm RA.

J Hum Genet. 2010 Feb;55(2):103-11. doi: 10.1038/jhg.2009.130. Epub 2009 Dec 18.

PMID:
20019752
28.

The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors.

Town L, McGlinn E, Fiorenza S, Metzis V, Butterfield NC, Richman JM, Wicking C.

Dev Dyn. 2009 Dec;238(12):3175-84. doi: 10.1002/dvdy.22126.

29.

Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb.

Butterfield NC, Metzis V, McGlinn E, Bruce SJ, Wainwright BJ, Wicking C.

Development. 2009 Oct;136(20):3515-24. doi: 10.1242/dev.037507.

30.

DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method.

Johanson HC, Hyland V, Wicking C, Sturm RA.

Biotechniques. 2009 Apr;46(4):309-11. doi: 10.2144/000113077.

31.

Trafficking, development and hedgehog.

Simpson F, Kerr MC, Wicking C.

Mech Dev. 2009 May-Jun;126(5-6):279-88. doi: 10.1016/j.mod.2009.01.007. Epub 2009 Feb 4. Review.

32.

ATF3 and p15PAF are novel gatekeepers of genomic integrity upon UV stress.

Turchi L, Fareh M, Aberdam E, Kitajima S, Simpson F, Wicking C, Aberdam D, Virolle T.

Cell Death Differ. 2009 May;16(5):728-37. doi: 10.1038/cdd.2009.2. Epub 2009 Feb 13.

33.

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.

Ashe A, Morgan DK, Whitelaw NC, Bruxner TJ, Vickaryous NK, Cox LL, Butterfield NC, Wicking C, Blewitt ME, Wilkins SJ, Anderson GJ, Cox TC, Whitelaw E.

Genome Biol. 2008;9(12):R182. doi: 10.1186/gb-2008-9-12-r182. Epub 2008 Dec 19.

34.

Initiation and patterning of the snake dentition are dependent on Sonic hedgehog signaling.

Buchtová M, Handrigan GR, Tucker AS, Lozanoff S, Town L, Fu K, Diewert VM, Wicking C, Richman JM.

Dev Biol. 2008 Jul 1;319(1):132-45. doi: 10.1016/j.ydbio.2008.03.004. Epub 2008 Mar 15.

35.

Expression of the NET family member Zfp503 is regulated by hedgehog and BMP signaling in the limb.

McGlinn E, Richman JM, Metzis V, Town L, Butterfield NC, Wainwright BJ, Wicking C.

Dev Dyn. 2008 Apr;237(4):1172-82. doi: 10.1002/dvdy.21508.

37.

Murine embryonic expression of the gene for the UV-responsive protein p15(PAF).

van Bueren KL, Bennetts JS, Fowles LF, Berkman JL, Simpson F, Wicking C.

Gene Expr Patterns. 2007 Jan;7(1-2):47-50. Epub 2006 May 25.

PMID:
16815099
38.

Identification and analysis of novel genes expressed in the mouse embryonic facial primordia.

Bennetts JS, Fowles LF, Butterfield NC, Berkman JL, Teasdale RD, Simpson F, Wicking C.

Front Biosci. 2006 Sep 1;11:2631-46.

PMID:
16720340
39.

Scube2 mediates Hedgehog signalling in the zebrafish embryo.

Hollway GE, Maule J, Gautier P, Evans TM, Keenan DG, Lohs C, Fischer D, Wicking C, Currie PD.

Dev Biol. 2006 Jun 1;294(1):104-18. Epub 2006 Apr 13.

40.

Evolutionary conservation and murine embryonic expression of the gene encoding the SERTA domain-containing protein CDCA4 (HEPP).

Bennetts JS, Fowles LF, Berkman JL, van Bueren KL, Richman JM, Simpson F, Wicking C.

Gene. 2006 Jun 7;374:153-65. Epub 2006 Mar 20.

PMID:
16546331
41.

Characterization of Rab23, a negative regulator of sonic hedgehog signaling.

Evans TM, Simpson F, Parton RG, Wicking C.

Methods Enzymol. 2005;403:759-77.

PMID:
16473637
42.

The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b.

Simpson F, Lammerts van Bueren K, Butterfield N, Bennetts JS, Bowles J, Adolphe C, Simms LA, Young J, Walsh MD, Leggett B, Fowles LF, Wicking C.

Exp Cell Res. 2006 Jan 1;312(1):73-85. Epub 2005 Nov 8.

PMID:
16288740
43.

A novel mammalian retromer component, Vps26B.

Kerr MC, Bennetts JS, Simpson F, Thomas EC, Flegg C, Gleeson PA, Wicking C, Teasdale RD.

Traffic. 2005 Nov;6(11):991-1001.

44.

Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development.

McGlinn E, van Bueren KL, Fiorenza S, Mo R, Poh AM, Forrest A, Soares MB, Bonaldo Mde F, Grimmond S, Hui CC, Wainwright B, Wicking C.

Mech Dev. 2005 Nov;122(11):1218-33. Epub 2005 Aug 1.

45.
46.

A novel hook-related protein family and the characterization of hook-related protein 1.

Simpson F, Martin S, Evans TM, Kerr M, James DE, Parton RG, Teasdale RD, Wicking C.

Traffic. 2005 Jun;6(6):442-58.

47.

An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis.

Adolphe C, Narang M, Ellis T, Wicking C, Kaur P, Wainwright B.

Development. 2004 Oct;131(20):5009-19. Epub 2004 Sep 15.

48.

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.

Hime GR, Lada H, Fietz MJ, Gillies S, Passmore A, Wicking C, Wainwright BJ.

Dev Dyn. 2004 Apr;229(4):780-90.

49.

Krt6a-Cre transgenic mice direct LoxP-mediated recombination to the companion cell layer of the hair follicle and following induction by retinoic acid to the interfollicular epidermis.

Smyth I, Ellis T, Hetherington R, Riley E, Narang M, Mahony D, Wicking C, Rothnagel JA, Wainwright BJ.

J Invest Dermatol. 2004 Jan;122(1):232-4. No abstract available.

50.

HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressor.

Lalonde JP, Lim R, Ingley E, Tilbrook PA, Thompson MJ, McCulloch R, Beaumont JG, Wicking C, Eyre HJ, Sutherland GR, Howe K, Solomon E, Williams JH, Klinken SP.

J Biol Chem. 2004 Feb 27;279(9):8181-9. Epub 2003 Dec 8.

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