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Search life-sciences literature (45,103,589 articles, preprints and more)

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Quiescence and aging of melanocyte stem cells and a novel association with programmed death-ligand 1.
Palmer JW, Villavicencio KM, Idris M, Baranyk IJ, Polycarp N, Dawson AD, Weddle D, NISC Comparative Sequencing Program, Pavan WJ, Filipp FV, Harris ML
iScience, 27(10):110908, 12 Sep 2024
Cited by: 0 articles | PMID: 39351197 | PMCID: PMC11440800
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Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ
bioRxiv, 08 Jun 2024
Cited by: 0 articles | PPR: PPR864502
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Single-cell profiling of MC1R-inhibited melanocytes.
Berns HM, Watkins-Chow DE, Lu S, Louphrasitthiphol P, Zhang T, Brown KM, Moura-Alves P, Goding CR, Pavan WJ
Pigment Cell Melanoma Res, 37(2):291-308, 16 Nov 2023
Cited by: 0 articles | PMID: 37972124
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Inbred SJL mice recapitulate human resistance to Cryptococcus infection due to differential immune activation.
Davis MJ, Martin RE, Pinheiro GM, Hoke ES, Moyer S, Ueno K, Rodriguez-Gil JL, Mallett MA, Khillan JS, Pavan WJ, Chang YC, Kwon-Chung KJ
mBio, 14(5):e0212323, 06 Oct 2023
Cited by: 2 articles | PMID: 37800917 | PMCID: PMC10653822
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The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
Watkins-Chow DE, Incao AA, Rivas C, Elliott G, Garrett LJ, Pavan WJ
Pigment Cell Melanoma Res, 37(2):259-264, 24 Oct 2023
Cited by: 0 articles | PMID: 37874775
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Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin.
Aman AJ, Saunders LM, Carr AA, Srivatasan S, Eberhard C, Carrington B, Watkins-Chow D, Pavan WJ, Trapnell C, Parichy DM
Elife, 12:RP86670, 11 Sep 2023
Cited by: 7 articles | PMID: 37695017 | PMCID: PMC10495112
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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX, NISC Comparative Sequencing Program, Sergeev YV, Oetting WS, Pavan WJ, Adams DR
Am J Hum Genet, 110(7):1123-1137, 15 Jun 2023
Cited by: 4 articles | PMID: 37327787 | PMCID: PMC10357474
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Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition
Berns HM, Watkins-Chow DE, Lu S, Louphrasitthiphol P, Zhang T, Brown KM, Moura-Alves P, Goding CR, Pavan WJ
bioRxiv, 10 Mar 2023
Cited by: 0 articles | PPR: PPR628404
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The relationship between PD-L1 and quiescence in melanocyte stem cell aging
Palmer JW, Villavicencio KM, Idris M, Weddle D, Filipp FV, NISC Comparative Sequencing Program, Pavan WJ, Harris ML
bioRxiv, 22 Sep 2022
Cited by: 0 articles | PPR: PPR548792
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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL, Watkins-Chow DE, Johnson NL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ, Rodriguez-Gil JL
Sci Rep, 12(1):2162, 09 Feb 2022
Cited by: 4 articles | PMID: 35140266 | PMCID: PMC8828765
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Expanded Analysis of Pigmentation Genetics in UK Biobank
Pairo-Castineira E, Cornelissen J, Rawlik K, Canela-Xandri O, Loftus SK, Pavan WJ, Brown KM, Tenesa A, Jackson IJ
bioRxiv, 31 Jan 2022
Cited by: 0 articles | PPR: PPR448751
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Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA, NISC Comparative Sequencing Program, Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ
Hum Mol Genet, 30(24):2456-2468, 01 Nov 2021
Cited by: 11 articles | PMID: 34296265 | PMCID: PMC8643505
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Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.
Davidson CD, Gibson AL, Gu T, Baxter LL, Deverman BE, Beadle K, Incao AA, Rodriguez-Gil JL, Fujiwara H, Jiang X, Chandler RJ, Ory DS, Gradinaru V, Venditti CP, Pavan WJ
Life Sci Alliance, 4(10):e202101040, 18 Aug 2021
Cited by: 6 articles | PMID: 34407999 | PMCID: PMC8380657
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A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus SK, Lundh L, Watkins-Chow DE, Baxter LL, Pairo-Castineira E, Nisc Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR
Hum Mutat, 42(10):1239-1253, 01 Aug 2021
Cited by: 4 articles | PMID: 34246199 | PMCID: PMC8435020
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How a membrane transporter keeps melanocytes in the red.
Marks MS, Pavan WJ
Pigment Cell Melanoma Res, 34(4):666-669, 15 May 2021
Cited by: 1 article | PMID: 33750024 | PMCID: PMC8277698
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Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin
Aman AJ, Saunders LM, Carr AA, Srivatsan SR, Eberhard CD, Carrington B, Watkins-Chow D, Pavan WJ, Trapnell C, Parichy DM
bioRxiv, 13 May 2021
Cited by: 0 articles | PPR: PPR339106
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Strategic vision for improving human health at The Forefront of Genomics.
Green ED, Gunter C, Biesecker LG, Di Francesco V, Easter CL, Feingold EA, Felsenfeld AL, Kaufman DJ, Ostrander EA, Pavan WJ, Phillippy AM, Wise AL, Dayal JG, Kish BJ, Mandich A, Wellington CR, Wetterstrand KA, Bates SA, Leja D, [...] Manolio TA
Nature, 586(7831):683-692, 28 Oct 2020
Cited by: 140 articles | PMID: 33116284 | PMCID: PMC7869889
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Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Elliot G, Harper UL, Wincovitch SM, Wedel JC, Incao AA, Huebecker M, Boehm FJ, Garver WS, Porter FD, Broman KW, Platt FM, Pavan WJ
Dis Model Mech, 13(3):dmm042614, 13 Mar 2020
Cited by: 16 articles | PMID: 31996359 | PMCID: PMC7075069
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NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Yokoyama T, Zerfas PM, Starost MF, Gahl WA, Malicdan MCV, Porter FD, Platt FM, Pavan WJ
J Clin Med, 9(1):E12, 19 Dec 2019
Cited by: 5 articles | PMID: 31861571 | PMCID: PMC7019814
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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, 129(2):165-170, 17 Oct 2019
Cited by: 4 articles | PMID: 31668555 | PMCID: PMC7002177
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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, 12(1):50, 09 Aug 2019
Cited by: 10 articles | PMID: 31399133 | PMCID: PMC6688322
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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, 140(2):269-274, 23 Jul 2019
Cited by: 0 articles | PMID: 31348921 | PMCID: PMC6981008
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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, Fortes-Lima CA, Eng C, Huntsman S, Hu D, Gómez-Cabezas EJ, Marín-Padrón LC, Grauholm J, Mors O, Burchard EG, [...] Parra EJ
BMC Genet, 20(1):59, 17 Jul 2019
Cited by: 25 articles | PMID: 31315583 | PMCID: PMC6637524
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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), 9(3):817-827, 07 Mar 2019
Cited by: 1 article | PMID: 30651286 | PMCID: PMC6404613
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The Genetics of Human Skin and Hair Pigmentation.
Pavan WJ, Sturm RA
Annu Rev Genomics Hum Genet, 20:41-72, 17 May 2019
Cited by: 56 articles | PMID: 31100995
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1-25 of 152 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

Quiescence and aging of melanocyte stem cells and a novel association with programmed death-ligand 1.

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice

Single-cell profiling of MC1R-inhibited melanocytes.

Inbred SJL mice recapitulate human resistance to Cryptococcus infection due to differential immune activation.

The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin.

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.

Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition

The relationship between PD-L1 and quiescence in melanocyte stem cell aging

Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Expanded Analysis of Pigmentation Genetics in UK Biobank

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

How a membrane transporter keeps melanocytes in the red.

Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin

Strategic vision for improving human health at The Forefront of Genomics.

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

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

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

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

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

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

The Genetics of Human Skin and Hair Pigmentation.

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