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Items: 1 to 50 of 149

1.

Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner.

Cougnoux A, Fellmeth M, Gu T, Davidson CD, Gibson AL, Pavan WJ, Porter FD.

Mol Genet Metab. 2019 Oct 17. pii: S1096-7192(19)30556-6. doi: 10.1016/j.ymgme.2019.10.004. [Epub ahead of print]

PMID:
31668555
2.

A Metagenomics Study on Hirschsprung's Disease Associated Enterocolitis: Biodiversity and Gut Microbial Homeostasis Depend on Resection Length and Patient's Clinical History.

Pini Prato A, Bartow-McKenney C, Hudspeth K, Mosconi M, Rossi V, Avanzini S, Faticato MG, Ceccherini I, Lantieri F, Mattioli G, Larson D, Pavan W, De Filippo C, Di Paola M, Mavilio D, Cavalieri D.

Front Pediatr. 2019 Aug 9;7:326. doi: 10.3389/fped.2019.00326. eCollection 2019.

3.

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells.

Fufa TD, Baxter LL, Wedel JC, Gildea DE; NISC Comparative Sequencing Program, Loftus SK, Pavan WJ.

Epigenetics Chromatin. 2019 Aug 9;12(1):50. doi: 10.1186/s13072-019-0297-2.

4.

Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting.

Leachman SA, Hornyak TJ, Barsh G, Bastian BC, Brash DE, Cleaver JE, Cooper CD, D'Orazio JA, Fujita M, Holmen SL, Indra AK, Kraemer KH, Le Poole IC, Lo RS, Lund AW, Manga P, Pavan WJ, Setaluri V, Stemwedel CE, Kulesz-Martin MF.

J Invest Dermatol. 2019 Jul 23. pii: S0022-202X(19)32550-3. doi: 10.1016/j.jid.2019.03.1164. [Epub ahead of print] No abstract available.

PMID:
31348921
5.

Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Lona-Durazo F, Hernandez-Pacheco N, Fan S, Zhang T, Choi J, Kovacs MA, Loftus SK, Le P, Edwards M, Fortes-Lima CA, Eng C, Huntsman S, Hu D, Gómez-Cabezas EJ, Marín-Padrón LC, Grauholm J, Mors O, Burchard EG, Norton HL, Pavan WJ, Brown KM, Tishkoff S, Pino-Yanes M, Beleza S, Marcheco-Teruel B, Parra EJ.

BMC Genet. 2019 Jul 17;20(1):59. doi: 10.1186/s12863-019-0765-5.

6.

The Genetics of Human Skin and Hair Pigmentation.

Pavan WJ, Sturm RA.

Annu Rev Genomics Hum Genet. 2019 Aug 31;20:41-72. doi: 10.1146/annurev-genom-083118-015230. Epub 2019 May 17.

PMID:
31100995
7.

Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.

Fialkowski AC, Levy DJ, Watkins-Chow DE, Palmer JW, Darji R, Tiwari HK, Pavan WJ, Harris ML.

G3 (Bethesda). 2019 Mar 7;9(3):817-827. doi: 10.1534/g3.118.200965.

8.

A curated gene list for expanding the horizons of pigmentation biology.

Baxter LL, Watkins-Chow DE, Pavan WJ, Loftus SK.

Pigment Cell Melanoma Res. 2019 May;32(3):348-358. doi: 10.1111/pcmr.12743. Epub 2018 Nov 6. Review.

PMID:
30339321
9.

Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Zhang T, Choi J, Kovacs MA, Shi J, Xu M; NISC Comparative Sequencing Program; Melanoma Meta-Analysis Consortium, Goldstein AM, Trower AJ, Bishop DT, Iles MM, Duffy DL, MacGregor S, Amundadottir LT, Law MH, Loftus SK, Pavan WJ, Brown KM.

Genome Res. 2018 Nov;28(11):1621-1635. doi: 10.1101/gr.233304.117. Epub 2018 Oct 17.

10.

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds.

Tseng WC, Loeb HE, Pei W, Tsai-Morris CH, Xu L, Cluzeau CV, Wassif CA, Feldman B, Burgess SM, Pavan WJ, Porter FD.

Dis Model Mech. 2018 Aug 15;11(9). pii: dmm034165. doi: 10.1242/dmm.034165.

11.

A direct link between MITF, innate immunity, and hair graying.

Harris ML, Fufa TD, Palmer JW, Joshi SS, Larson DM, Incao A, Gildea DE, Trivedi NS, Lee AN, Day CP, Michael HT, Hornyak TJ, Merlino G; NISC Comparative Sequencing Program, Pavan WJ.

PLoS Biol. 2018 May 3;16(5):e2003648. doi: 10.1371/journal.pbio.2003648. eCollection 2018 May.

12.

Identification and functional analysis of SOX10 phosphorylation sites in melanoma.

Cronin JC, Loftus SK, Baxter LL, Swatkoski S, Gucek M, Pavan WJ.

PLoS One. 2018 Jan 9;13(1):e0190834. doi: 10.1371/journal.pone.0190834. eCollection 2018.

13.

In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.

Marshall CA, Watkins-Chow DE, Palladino G, Deutsch G, Chandran K, Pavan WJ, Erickson RP.

Gene. 2018 Feb 15;643:117-123. doi: 10.1016/j.gene.2017.12.006. Epub 2017 Dec 6.

PMID:
29223359
14.

Loci associated with skin pigmentation identified in African populations.

Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program, Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA.

Science. 2017 Nov 17;358(6365). pii: eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12.

15.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.

16.

The RhoJ-BAD signaling network: An Achilles' heel for BRAF mutant melanomas.

Ruiz R, Jahid S, Harris M, Marzese DM, Espitia F, Vasudeva P, Chen CF, de Feraudy S, Wu J, Gillen DL, Krasieva TB, Tromberg BJ, Pavan WJ, Hoon DS, Ganesan AK.

PLoS Genet. 2017 Jul 28;13(7):e1006913. doi: 10.1371/journal.pgen.1006913. eCollection 2017 Jul.

17.

BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.

Marathe HG, Watkins-Chow DE, Weider M, Hoffmann A, Mehta G, Trivedi A, Aras S, Basuroy T, Mehrotra A, Bennett DC, Wegner M, Pavan WJ, de la Serna IL.

Nucleic Acids Res. 2017 Jun 20;45(11):6442-6458. doi: 10.1093/nar/gkx259.

18.

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.

Seberg HE, Van Otterloo E, Loftus SK, Liu H, Bonde G, Sompallae R, Gildea DE, Santana JF, Manak JR, Pavan WJ, Williams T, Cornell RA.

PLoS Genet. 2017 Mar 1;13(3):e1006636. doi: 10.1371/journal.pgen.1006636. eCollection 2017 Mar.

19.

Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis.

Loftus SK, Baxter LL, Cronin JC, Fufa TD; NISC Comparative Sequencing Program, Pavan WJ.

Pigment Cell Melanoma Res. 2017 May;30(3):339-352. doi: 10.1111/pcmr.12579. Epub 2017 Apr 19.

20.

Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection.

Watkins-Chow DE, Varshney GK, Garrett LJ, Chen Z, Jimenez EA, Rivas C, Bishop KS, Sood R, Harper UL, Pavan WJ, Burgess SM.

G3 (Bethesda). 2017 Feb 9;7(2):719-722. doi: 10.1534/g3.116.038091.

21.

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Chandler RJ, Williams IM, Gibson AL, Davidson CD, Incao AA, Hubbard BT, Porter FD, Pavan WJ, Venditti CP.

Hum Mol Genet. 2017 Jan 1;26(1):52-64. doi: 10.1093/hmg/ddw367.

22.

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E.

Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19.

23.

Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence.

Ibiza S, García-Cassani B, Ribeiro H, Carvalho T, Almeida L, Marques R, Misic AM, Bartow-McKenney C, Larson DM, Pavan WJ, Eberl G, Grice EA, Veiga-Fernandes H.

Nature. 2016 Jul 21;535(7612):440-443. doi: 10.1038/nature18644. Epub 2016 Jul 13.

24.

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

Nicoli ER, Al Eisa N, Cluzeau CV, Wassif CA, Gray J, Burkert KR, Smith DA, Morris L, Cologna SM, Peer CJ, Sissung TM, Uscatu CD, Figg WD, Pavan WJ, Vite CH, Porter FD, Platt FM.

PLoS One. 2016 Mar 28;11(3):e0152007. doi: 10.1371/journal.pone.0152007. eCollection 2016.

25.

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Francis KR, Ton AN, Xin Y, O'Halloran PE, Wassif CA, Malik N, Williams IM, Cluzeau CV, Trivedi NS, Pavan WJ, Cho W, Westphal H, Porter FD.

Nat Med. 2016 Apr;22(4):388-96. doi: 10.1038/nm.4067. Epub 2016 Mar 21.

26.

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes.

Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Tuy FP, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.

PLoS Genet. 2015 Nov 19;11(11):e1005682. doi: 10.1371/journal.pgen.1005682. eCollection 2015 Nov. No abstract available.

27.

Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.

Fufa TD, Harris ML, Watkins-Chow DE, Levy D, Gorkin DU, Gildea DE, Song L, Safi A, Crawford GE, Sviderskaya EV, Bennett DC, Mccallion AS, Loftus SK, Pavan WJ.

Hum Mol Genet. 2015 Oct 1;24(19):5433-50. doi: 10.1093/hmg/ddv267. Epub 2015 Jul 23.

28.

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Saldana-Caboverde A, Perera EM, Watkins-Chow DE, Hansen NF, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Pavan WJ, Kos L.

Dev Biol. 2015 Nov 15;407(2):300-12. doi: 10.1016/j.ydbio.2015.04.012. Epub 2015 Apr 23.

29.

Lysosomal targeting with stable and sensitive fluorescent probes (Superior LysoProbes): applications for lysosome labeling and tracking during apoptosis.

Chen X, Bi Y, Wang T, Li P, Yan X, Hou S, Bammert CE, Ju J, Gibson KM, Pavan WJ, Bi L.

Sci Rep. 2015 Mar 11;5:9004. doi: 10.1038/srep09004.

30.

Highly stable and sensitive fluorescent probes (LysoProbes) for lysosomal labeling and tracking.

Yapici NB, Bi Y, Li P, Chen X, Yan X, Mandalapu SR, Faucett M, Jockusch S, Ju J, Gibson KM, Pavan WJ, Bi L.

Sci Rep. 2015 Feb 26;5:8576. doi: 10.1038/srep08576.

31.

Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling.

Efthymiou AG, Steiner J, Pavan WJ, Wincovitch S, Larson DM, Porter FD, Rao MS, Malik N.

Stem Cells Transl Med. 2015 Mar;4(3):230-8. doi: 10.5966/sctm.2014-0127. Epub 2015 Jan 30.

32.

Ectopic differentiation of melanocyte stem cells is influenced by genetic background.

Harris ML, Levy DJ, Watkins-Chow DE, Pavan WJ.

Pigment Cell Melanoma Res. 2015 Mar;28(2):223-8. doi: 10.1111/pcmr.12344. Epub 2015 Jan 5.

33.

Axing the cancer loop.

Fufa TD, Pavan WJ.

Pigment Cell Melanoma Res. 2014 Sep;27(5):691-3. doi: 10.1111/pcmr.12286. Epub 2014 Jul 3. No abstract available.

PMID:
24953508
34.

Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.

Hwang HW, Baxter LL, Loftus SK, Cronin JC, Trivedi NS, Borate B, Pavan WJ.

Pigment Cell Melanoma Res. 2014 Sep;27(5):777-87. doi: 10.1111/pcmr.12255. Epub 2014 May 27.

35.

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.

Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, Vite CH, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC.

Curr Top Med Chem. 2014;14(3):330-9. Review.

36.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E.

Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022.

37.

A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice.

Harmacek L, Watkins-Chow DE, Chen J, Jones KL, Pavan WJ, Salbaum JM, Niswander L.

Dev Neurobiol. 2014 May;74(5):483-97. doi: 10.1002/dneu.22142. Epub 2014 Jan 9.

38.

A dual role for SOX10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitors.

Harris ML, Buac K, Shakhova O, Hakami RM, Wegner M, Sommer L, Pavan WJ.

PLoS Genet. 2013;9(7):e1003644. doi: 10.1371/journal.pgen.1003644. Epub 2013 Jul 25.

39.

SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis.

Cronin JC, Watkins-Chow DE, Incao A, Hasskamp JH, Schönewolf N, Aoude LG, Hayward NK, Bastian BC, Dummer R, Loftus SK, Pavan WJ.

Cancer Res. 2013 Sep 15;73(18):5709-18. doi: 10.1158/0008-5472.CAN-12-4620. Epub 2013 Aug 1.

40.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Rodriguez-Gil JL, Larson DM, Wassif CA, Yanjanin NM, Anderson SM, Kirby MR, Trivedi NS, Porter FD, Pavan WJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):188-90. doi: 10.1016/j.ymgme.2013.06.010. Epub 2013 Jun 21.

41.

The etiology and molecular genetics of human pigmentation disorders.

Baxter LL, Pavan WJ.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):379-92. doi: 10.1002/wdev.72. Epub 2012 May 17. Review.

42.

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Fu R, Wassif CA, Yanjanin NM, Watkins-Chow DE, Baxter LL, Incao A, Liscum L, Sidhu R, Firnkes S, Graham M, Ory DS, Porter FD, Pavan WJ.

Hum Mol Genet. 2013 Sep 1;22(17):3508-23. doi: 10.1093/hmg/ddt206. Epub 2013 May 10.

43.

Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Rusmini M, Griseri P, Lantieri F, Matera I, Hudspeth KL, Roberto A, Mikulak J, Avanzini S, Rossi V, Mattioli G, Jasonni V, Ravazzolo R, Pavan WJ, Pini-Prato A, Ceccherini I, Mavilio D.

PLoS One. 2013;8(3):e59066. doi: 10.1371/journal.pone.0059066. Epub 2013 Mar 18. Erratum in: PLoS One. 2013;8(4). doi:10.1371/annotation/d3a96ff5-2a66-4454-8d8d-932ad4cfe906.

44.

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.

Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.

PLoS Genet. 2013;9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31. Erratum in: PLoS Genet. 2015 Nov;11(11):e1005682.

45.

The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes.

Silver DL, Leeds KE, Hwang HW, Miller EE, Pavan WJ.

Dev Biol. 2013 Mar 15;375(2):172-81. doi: 10.1016/j.ydbio.2013.01.004. Epub 2013 Jan 18.

46.

Postnatal lineage mapping of follicular melanocytes with the Tyr::CreER(T) (2) transgene.

Harris ML, Pavan WJ.

Pigment Cell Melanoma Res. 2013 Mar;26(2):269-74. doi: 10.1111/pcmr.12048. Epub 2012 Dec 20.

47.

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

48.

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes.

Gorkin DU, Lee D, Reed X, Fletez-Brant C, Bessling SL, Loftus SK, Beer MA, Pavan WJ, McCallion AS.

Genome Res. 2012 Nov;22(11):2290-301. doi: 10.1101/gr.139360.112. Epub 2012 Sep 27.

49.

Plasma and tissue concentrations of α-tocopherol and δ-tocopherol following high dose dietary supplementation in mice.

Baxter LL, Marugan JJ, Xiao J, Incao A, McKew JC, Zheng W, Pavan WJ.

Nutrients. 2012 Jun;4(6):467-90. doi: 10.3390/nu4060467. Epub 2012 Jun 6.

50.

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22.

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