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Items: 1 to 20 of 26

1.
Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants
Monika B. Dolinska, Taariq Woods, Isabella Osuna, Yuri V. Sergeev
Int J Mol Sci. 2022 Feb; 23(3): 1305. Published online 2022 Jan 24. doi: 10.3390/ijms23031305
PMCID:
PMC8836267
ArticlePubReaderPDF–5.8MCite
2.
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction
Desiree Brancato, Elvira Coniglio, Francesca Bruno, Vincenzo Agostini, Salvatore Saccone, Concetta Federico
Genes (Basel) 2023 Aug; 14(8): 1604. Published online 2023 Aug 10. doi: 10.3390/genes14081604
PMCID:
PMC10454093
ArticlePubReaderPDF–1.4MCite
3.
Abnormal foveal morphology in carriers of oculocutaneous albinism
Helen J Kuht, Mervyn G Thomas, Rebecca J McLean, Viral Sheth, Frank A Proudlock, Irene Gottlob
Br J Ophthalmol. 2023 Aug; 107(8): 1202–1208. Published online 2022 Apr 4. doi: 10.1136/bjophthalmol-2020-318192
PMCID:
PMC10359511
ArticlePubReaderPDF–2.0MCite
4.
Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets
Miaoyu Bai, Shanjia Ke, Hongjun Yu, Yanan Xu, Yue Yu, Shounan Lu, Chaoqun Wang, Jingjing Huang, Yong Ma, Wenjie Dai, Yaohua Wu
Front Immunol. 2022; 13: 964891. Published online 2022 Aug 17. doi: 10.3389/fimmu.2022.964891
PMCID:
PMC9428590
ArticlePubReaderPDF–13MCite
5.
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
Muhammad Ikram Ullah
Genes (Basel) 2022 Jun; 13(6): 1072. Published online 2022 Jun 16. doi: 10.3390/genes13061072
PMCID:
PMC9222488
ArticlePubReaderPDF–1.0MCite
6.
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen
Invest Ophthalmol Vis Sci. 2022 Jan; 63(1): 19. Published online 2022 Jan 14. doi: 10.1167/iovs.63.1.19
PMCID:
PMC8762694
ArticlePubReaderPDF–2.0MCite
7.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M.G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauß, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl
Blood. Author manuscript; available in PMC 2021 Aug 16.
Published in final edited form as: Blood. 2016 Feb 25; 127(8): 997–1006. Published online 2016 Jan 7. doi: 10.1182/blood-2015-09-671636
PMCID:
PMC7611501
ArticlePubReaderPDF–1.5MCite
8.
Dissecting the Regulatory Network of Leaf Premature Senescence in Maize (Zea mays L.) Using Transcriptome Analysis of ZmELS5 Mutant
Mao Chai, Zhanyong Guo, Xia Shi, Yingbo Li, Jihua Tang, Zhanhui Zhang
Genes (Basel) 2019 Nov; 10(11): 944. Published online 2019 Nov 19. doi: 10.3390/genes10110944
PMCID:
PMC6895817
ArticlePubReaderPDF–6.1MCite
9.
Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series
DR. Joel Rivera-Concepción, Jorge Acevedo-Canabal, Antonio Burés, Gustavo Vargas, Carmen Cadilla, Natalio J. Izquierdo
Eur J Haematol. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Eur J Haematol. 2019 May; 102(5): 432–436. Published online 2019 Mar 6. doi: 10.1111/ejh.13210
PMCID:
PMC6545108
ArticlePubReaderPDF–68KCite
10.
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Orphanet J Rare Dis. 2019; 14: 52. Published online 2019 Feb 21. doi: 10.1186/s13023-019-1023-7
PMCID:
PMC6385472
ArticlePubReaderPDF–6.7MCite
11.
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
Ighovie F. Onojafe, Lucyanne H. Megan, Madeline G. Melch, Joseph O. Aderemi, Ramakrishna P. Alur, Mones S. Abu-Asab, Chi-Chao Chan, Isa M. Bernardini, Jessica S. Albert, Tiziana Cogliati, David R. Adams, Brian P. Brooks
Invest Ophthalmol Vis Sci. 2018 Oct; 59(12): 4945–4952. doi: 10.1167/iovs.16-20293
PMCID:
PMC6181301
ArticlePubReaderPDF–939KCite
12.
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo
BMC Med Genet. 2018; 19: 170. Published online 2018 Sep 15. doi: 10.1186/s12881-018-0661-2
PMCID:
PMC6139163
ArticlePubReaderPDF–1.5MCite
13.
Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses
Maura Mack, Elizabeth Kowalski, Robert Grahn, Dineli Bras, Maria Cecilia T. Penedo, Rebecca Bellone
G3 (Bethesda) 2017 Aug; 7(8): 2799–2806. Published online 2017 Jun 27. doi: 10.1534/g3.117.043786
PMCID:
PMC5555483
ArticlePubReaderPDF–1.3MCite
14.
Exogenous gene transfer of Rab38 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
Respir Res. 2017; 18: 70. Published online 2017 Apr 24. doi: 10.1186/s12931-017-0549-2
PMCID:
PMC5402648
ArticlePubReaderPDF–2.3MCite
15.
Clinical and Molecular Phenotyping of a Child with Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS
Melanie M. Bryan, Nathanial Tolman, Karen L. Simon, Marjan Huizing, Robert B. Hufnagel, Brian P. Brooks, Vladislav Speransky, James C. Mullikin, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico
Mol Genet Metab. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Mol Genet Metab. 2017 Apr; 120(4): 378–383. Published online 2017 Feb 27. doi: 10.1016/j.ymgme.2017.02.007
PMCID:
PMC5395203
ArticlePubReaderPDF–502KCite
16.
Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies
Xuelei Lai, Montserrat Soler-Lopez, Harry J. Wichers, Bauke W. Dijkstra
PLoS One. 2016; 11(8): e0161697. Published online 2016 Aug 23. doi: 10.1371/journal.pone.0161697
PMCID:
PMC4994950
ArticlePubReaderPDF–8.9MCite
17.
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis
Arnold S. Kirshenbaum, Glenn Cruse, Avanti Desai, Geethani Bandara, Maarten Leerkes, Chyi-Chia R. Lee, Elizabeth R. Fischer, Kevin J. O’Brien, Bernadette R. Gochuico, Kelly Stone, William A. Gahl, Dean D. Metcalfe
PLoS One. 2016; 11(7): e0159177. Published online 2016 Jul 26. doi: 10.1371/journal.pone.0159177
PMCID:
PMC4961407
ArticlePubReaderPDF–11MCite
18.
A Potential Benefit of Albinism in Astyanax Cavefish: Downregulation of the oca2 Gene Increases Tyrosine and Catecholamine Levels as an Alternative to Melanin Synthesis
Helena Bilandžija, Li Ma, Amy Parkhurst, William R. Jeffery
PLoS One. 2013; 8(11): e80823. Published online 2013 Nov 25. doi: 10.1371/journal.pone.0080823
PMCID:
PMC3840000
ArticlePubReaderPDF–1.6MCite
19.
Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele
J B Gross, H Wilkens
Heredity (Edinb) 2013 Aug; 111(2): 122–130. Published online 2013 Apr 10. doi: 10.1038/hdy.2013.26
PMCID:
PMC3716263
ArticlePubReaderPDF–1.4MCite
20.
Genetic Architecture of Skin and Eye Color in an African-European Admixed Population
Sandra Beleza, Nicholas A. Johnson, Sophie I. Candille, Devin M. Absher, Marc A. Coram, Jailson Lopes, Joana Campos, Isabel Inês Araújo, Tovi M. Anderson, Bjarni J. Vilhjálmsson, Magnus Nordborg, António Correia e Silva, Mark D. Shriver, Jorge Rocha, Gregory S. Barsh, Hua Tang
PLoS Genet. 2013 Mar; 9(3): e1003372. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003372
PMCID:
PMC3605137
ArticlePubReaderPDF–2.3MCite

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