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Select item 92224881.

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

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Select item 41003932.

Mutational Analysis of Oculocutaneous Albinism: A Compact Review

Balu Kamaraj, Rituraj Purohit

Biomed Res Int. 2014; 2014: 905472. Published online 2014 Jun 29. doi: 10.1155/2014/905472

PMCID:: PMC4100393

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Select item 105066863.

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Bénédicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Coste

Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 26. Published online 2023 Sep 14. doi: 10.1167/iovs.64.12.26

PMCID:: PMC10506686

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Select item 98948044.

1例Angelman综合征合并眼皮肤白化病2型患者的临床和遗传学分析及文献回顾

周秋君, 龚潘, 焦莶如, 杨志仙

Beijing Da Xue Xue Bao Yi Xue Ban. 2023 Feb 18; 55(1): 181–185. Chinese. Published online 2022 Apr 13. doi: 10.19723/j.issn.1671-167X.2023.01.028

PMCID:: PMC9894804

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Select item 94509525.

AP‐3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)

Sam J. Neuffer, David Beltran‐Cardona, Kevin Jimenez‐Perez, Lauren F. Clancey, Alexander Brown, Leslie New, Cynthia D. Cooper

Pigment Cell Melanoma Res. 2022 Sep; 35(5): 495–505. Published online 2022 Aug 29. doi: 10.1111/pcmr.13055

PMCID:: PMC9450952

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Select item 92063936.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 15. Published online 2022 Jun 15. doi: 10.1167/iovs.63.6.15

PMCID:: PMC9206393

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Select item 91089847.

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1

Chaoyi Li, Qian Chen, Junjiao Wu, Jie Ren, Mengfei Zhang, Huakun Wang, Jinchen Li, Yu Tang

J Biol Chem. 2022 May; 298(5): 101922. Published online 2022 Apr 10. doi: 10.1016/j.jbc.2022.101922

PMCID:: PMC9108984

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Select item 88362678.

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

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Select item 87626949.

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

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Select item 850814410.

Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding

Milan H. Patel, Monika B. Dolinska, Yuri V. Sergeev

Int J Mol Sci. 2021 Oct; 22(19): 10203. Published online 2021 Sep 22. doi: 10.3390/ijms221910203

PMCID:: PMC8508144

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Select item 848739211.

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Zhao-Xia Wang, Yi-Hui Liu, Yi Dong, Ya-Li Li, Tie-Yu Tang, Liang-Liang Fan

Biomed Res Int. 2021; 2021: 4535349. Published online 2021 Sep 24. doi: 10.1155/2021/4535349

PMCID:: PMC8487392

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Select item 836981312.

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5

Amanda Helip-Wooley, Wendy Westbroek, Heidi M. Dorward, Amy Koshoffer, Marjan Huizing, Raymond E. Boissy, William A. Gahl

J Invest Dermatol. Author manuscript; available in PMC 2021 Aug 17.

Published in final edited form as: J Invest Dermatol. 2007 Jun; 127(6): 1471–1478. Published online 2007 Feb 15. doi: 10.1038/sj.jid.5700737

PMCID:: PMC8369813

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Select item 701127513.

A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population

Gerald Reiner, Kirsten Tramberend, Florian Nietfeld, Klaus Volmer, Christine Wurmser, Ruedi Fries, Hermann Willems

BMC Genet. 2020; 21: 14. Published online 2020 Feb 10. doi: 10.1186/s12863-020-0814-0

PMCID:: PMC7011275

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Select item 688644314.

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells

Ellie Karampini, Maaike Schillemans, Menno Hofman, Floris van Alphen, Martin de Boer, Taco W. Kuijpers, Maartje van den Biggelaar, Jan Voorberg, Ruben Bierings

Haematologica. 2019 Oct; 104(10): 2091–2099. Prepublished online 2019 Jan 10. doi: 10.3324/haematol.2018.207787

PMCID:: PMC6886443

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Select item 654510815.

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

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Select item 651706916.

Predictable and precise template-free CRISPR editing of pathogenic variants

Max W. Shen, Mandana Arbab, Jonathan Y. Hsu, Daniel Worstell, Sannie J. Culbertson, Olga Krabbe, Christopher A. Cassa, David R. Liu, David K. Gifford, Richard I. Sherwood

Nature. Author manuscript; available in PMC 2019 May 14.

Published in final edited form as: Nature. 2018 Nov; 563(7733): 646–651. Published online 2018 Nov 7. doi: 10.1038/s41586-018-0686-x