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  1. 1.   Molecular and genetic characterization of sex-linked orange coat color in the domestic cat
  2. Kaelin, Christopher B; McGowan, Kelly A; Trotman, Joshaya C; Koroma, Donald C; David, Victor A; Menotti-Raymond, Marilyn; Graff, Emily C; Schmidt-Küntzel, Anne; Oancea, Elena; Barsh, Gregory S
  3. Current Biology : CB. 2025, May 12;
  1. 2.   Integrated Analysis of Co-expression and Exome Sequencing to Prioritize Susceptibility Genes for Familial Cutaneous Melanoma
  2. Yepes, Sally; Tucker, Margaret A; Koka, Hela; Xiao, Yanzi; Zhang, Tongwu; Jones,Kristine; Vogt,Aurelie; Burdett,Laurie; Luo,Wen; Zhu,Bin; Hutchinson,Amy; Yeager, Meredith; Hicks,Belynda; Brown, Kevin M; Freedman, Neal D; Chanock, Stephen J; Goldstein, Alisa M; Yang, Xiaohong R
  3. The Journal of Investigative Dermatology. 2022, Feb 15;
  1. 3.   Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice
  2. Michael, Helen T.; Graff-Cherry, Cari; Chin, Sung; Rauck, Corinne; Habtemichael, Amelework D.; Bunda, Patricia; Smith, Tunde; Campos, Maria M.; Bharti, Kapil; Arnheiter, Heinz; Merlino, Glenn; Day, Chi-Ping
  3. Investigative ophthalmology & visual science. 2018, Dec; 59(15): 6067-6073.
  1. 4.   Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
  2. Ratnasamy, Vithiya; Navaneethakrishnan, Suganthan; Sirisena, Nirmala Dushyanthi; Grüning, Nana-Maria; Brandau, Oliver; Thirunavukarasu, Kumanan; Dagnall, Casey; McReynolds, Lisa J; Savage, Sharon A; Dissanayake, Vajira H W
  3. BMC Medical Genetics. 2018, May 25; 19(1): 85.
  1. 5.   Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
  2. May-Simera, Helen Louise; Wan, Qin; Jha, Balendu Shekhar; Hartford, Juliet; Khristov, Vladimir; Dejene, Roba; Chang, Justin; Patnaik, Sarita; Lu, Quanlong; Banerjee, Poulomi; Silver, Jason; Kettenhofen, Christine; Patel, Dishita; Lotfi, Mostafa; Malicdan, May; Hotaling, Nathan; Maminishkis, Arvydas; Sridharan, Rupa; Brooks, Brian; Miyagishima, Kiyoharu; Gunay-Aygun, Meral; Pal, Rajarshi; Westlake, Christopher; Miller, Sheldon; Sharma, Ruchi; Bharti, Kapil
  3. Cell reports. 2018, Jan 02; 22(1): 189-205.
  1. 6.   Analysis of the ABCA4 Gene by Next-Generation Sequencing
  2. Zernant, J.; Schubert, C.; Im, K. M.; Burke, T.; Brown, C. M.; Fishman, G. A.; Tsang, S. H.; Gouras, P.; Dean, M.; Allikmets, R.
  3. Investigative Ophthalmology & Visual Science. 2011, Oct; 52(11): 8479-8487.
  1. 7.   Developmental Cardiac Hypertrophy in a Mouse Model of Prolidase Deficiency
  2. Jung, S.; Silvius, D.; Nolan, K. A.; Borchert, G. L.; Millet, Y. H.; Phang, J. M.; Gunn, T. M.
  3. Birth Defects Research Part a-Clinical and Molecular Teratology. 2011, Apr; 91(4): 204-217.
  1. 8.   Role of IKK alpha in skin squamous cell carcinomas
  2. Park, E. M.; Liu, B. G.; Xia, X. J.; Zhu, F.; Jami, W. B.; Hu, Y. L.
  3. Future Oncology. 2011, Jan; 7(1): 123-134.
  1. 9.   Genetic Admixture and Population Substructure in Guanacaste Costa Rica
  2. Wang, Z. M.; Hildesheim, A.; Wang, S. S.; Herrero, R.; Gonzalez, P.; Burdette, L.; Hutchinson, A.; Thomas, G.; Chanock, S. J.; Yu, K.
  3. Plos One. 2010, Oct; 5(10): 10.
  1. 10.   Mutation Discovered in a Feline Model of Human Congenital Retinal Blinding Disease
  2. Menotti-Raymond, M.; Deckman, K. H.; David, V.; Myrkalo, J.; O'Brien, S. J.; Narfstrom, K.
  3. Investigative Ophthalmology & Visual Science. 2010, Jun; 51(6): 2852-2859.
  1. 11.   Toxicity of Organic Fluorophores Used in Molecular Imaging: Literature Review
  2. Alford, R.; Simpson, H. M.; Duberman, J.; Hill, G. C.; Ogawa, M.; Regino, C.; Kobayashi, H.; Choyke, P. L.
  3. Molecular Imaging. 2009, Nov-Dec; 8(6): 341-354.
  1. 12.   UVC inhibits HIF-1 alpha protein translation by a DNA damage- and topoisomerase I-independent pathway
  2. Rapisarda, A.; Melillo, G.
  3. Oncogene. 2007, Oct; 26(48): 6875-6884.
  1. 13.   The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator
  2. Boesze-Battaglia, K.; Song, H. M.; Sokolov, M.; Lillo, C.; Pankoski-Walker, L.; Gretzula, C.; Gallagher, B.; Rachel, R. A.; Jenkins, N. A.; Copeland, N. G.; Morris, F.; Jacob, J.; Yeagle, P.; Williams, D. S.; Damek-Poprawa, M.
  3. Biochemistry. 2007, Feb; 46(5): 1256-1272.
  1. 14.   Mutation in CEP290 discovered for cat, model of human retinal degeneration
  2. Menotti-Raymond, M.; David, V. A.; Schaffer, A. A.; Stephens, R.; Wells, D.; Kumar-Singh, R.; O'Brien, S. J.; Narfstrom, K.
  3. Journal of Heredity. 2007, May-Jun; 98(3): 211-220.
  1. 15.   A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat
  2. Ishida, Y.; David, V. A.; Eizirik, E.; Schaffer, A. A.; Neelam, B. A.; Roelke, M. E.; Hannah, S. S.; O'Brien, S. J.; Menotti-Raymond, M.
  3. Genomics. 2006, Dec; 88(6): 698-705.
  1. 16.   PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes
  2. Robinson-White, A. J.; Leitner, W. W.; Aleem, E.; Kaldis, P.; Bossis, I.; Stratakis, C. A.
  3. Cancer Research. 2006, Nov; 66(21): 10603-10612.
  1. 17.   Mouse coat color mutations: From fancy mice to functional genomics
  2. Steingrimsson, E.; Copeland, N. G.; Jenkins, N. A.
  3. Developmental Dynamics. 2006, Sep; 235(9): 2401-2411.
  1. 18.   Transgenic mice expressing Cre-recombinase specifically in retinal rod bipolar neurons
  2. Zhang, X. M.; Chen, B. Y.; Ng, A. H. L.; Tanner, J. A.; Tay, D.; So, K. F.; Rachel, R. A.; Copeland, N. G.; Jenkins, N. A.; Huang, J. D.
  3. Investigative Ophthalmology & Visual Science. 2005, OCT; 46(10): 3515-3520.
  1. 19.   Epigenetic silencing of the human nucleotide excision repair gene, hHR23B, in interleukin-6-responsive multiple myeloma KAS-6/1 cells
  2. Pengt, B.; Hodge, D. R.; Thomas, S. B.; Cherry, J. M.; Munroe, D. J.; Pompeia, C.; Xiao, W. H.; Farrar, W. L.
  3. Journal of Biological Chemistry. 2005, FEB 11; 280(6): 4182-4187.
  1. 20.   Protein kinase C alpha-mediated chemotaxis of neutrophils requires NF-kappa B activity but is independent of TNF alpha signaling in mouse skin in vivo
  2. Cataisson, C.; Pearson, A. J.; Torgerson, S.; Nedospasov, S. A.; Yuspa, S. H.
  3. Journal of Immunology. 2005, FEB 1; 174(3): 1686-1692.
  1. 21.   Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates
  2. Dean, M.; Annilo, T.
  3. Annual review of genomics and human genetics. 2005 6: 123-142.
  1. 22.   dsu functions in a MYO5A-independent pathway to suppress the coat color of dilute mice
  2. O'Sullivan, T. N.; Wu, X. F. S.; Rachel, R. A.; Huang, J. D.; Swing, D. A.; Matesic, L. E.; Hammer, J. A.; Copeland, N. G.; Jenkins, N. A.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004, NOV 30; 101(48): 16831-16836.
  1. 23.   Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
  2. Khan, S. G.; Metin, A.; Gozukara, E.; Inui, H.; Shahlavi, T.; Muniz-Medina, V.; Baker, C. C.; Ueda, T.; Aiken, J. R.; Schneider, T. D.; Kraemer, K. H.
  3. Human Molecular Genetics. 2004 13(3): 343-352.
  1. 24.   Molecular genetics and evolution of melanism in the cat family
  2. Eizirik, E.; Yuhki, N.; Johnson, W. E.; Menotti-Raymond, M.; Hannah, S. S.; O'Brien, S. J.
  3. Current Biology. 2003 13(5): 448-453.
  1. 25.   Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma
  2. Liao, S. Y.; Ivanov, S.; Ivanova, A.; Ghosh, S.; Cote, M. A.; Keefe, K.; Coca-Prados, M.; Stanbridge, E. J.; Lerman, M. I.
  3. Journal of Medical Genetics. 2003 40(4): 257-261.
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