PMC Articles for MedGen (Select 337712) - PMC

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Items: 19

Select item 87587821.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self

NPJ Genom Med. 2022; 7: 2. Published online 2022 Jan 13. doi: 10.1038/s41525-021-00275-9

PMCID:: PMC8758782

Article PDF–1.3M

Select item 107938802.

Visual acuity improvement in children with albinism beyond the first decade of life

Claudia Yahalom, Ana Navarrete, Atara Juster, Ayan Galbinur, Anat Blumenfeld, Karen Hendler

PLoS One. 2024; 19(1): e0296744. Published online 2024 Jan 17. doi: 10.1371/journal.pone.0296744

PMCID:: PMC10793880

Article PDF–433K

Select item 103574743.

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

Stacie K. Loftus, Meredith F. Gillis, Linnea Lundh, Laura L. Baxter, Julia C. Wedel, Dawn E. Watkins-Chow, Frank X. Donovan, NISC Comparative Sequencing Program, Yuri V. Sergeev, William S. Oetting, William J. Pavan, David R. Adams

Am J Hum Genet. 2023 Jul 6; 110(7): 1123–1137. Published online 2023 Jun 15. doi: 10.1016/j.ajhg.2023.05.012

PMCID:: PMC10357474

Article PDF–3.3M

Select item 87220504.

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti

BMC Med Genomics. 2022; 15: 2. Published online 2022 Jan 3. doi: 10.1186/s12920-021-01152-1

Correction in:: BMC Med Genomics. 2022; 15: 11.

PMCID:: PMC8722050

Article PDF–2.1M

Select item 83461265.

Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase

Samuel A. Wachamo, Milan H. Patel, Paul K. Varghese, Monika B. Dolinska, Yuri V. Sergeev

Int J Mol Sci. 2021 Aug; 22(15): 7771. Published online 2021 Jul 21. doi: 10.3390/ijms22157771

PMCID:: PMC8346126

Article PDF–3.2M

Select item 78082556.

Functional in silico analysis of human tyrosinase and OCA1 associated mutations

Milan Patel, Yuri Sergeev

J Anal Pharm Res. Author manuscript; available in PMC 2021 Jan 14.

Published in final edited form as: J Anal Pharm Res. 2020; 9(3): 81–89. Published online 2020 Aug 24.

PMCID:: PMC7808255

Article PDF–1.8M

Select item 64137817.

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

David R. Adams, Supriya Menezes, Ramon Jauregui, Zaheer M. Valivullah, Bradley Power, Maria Abraham, Brett G. Jeffrey, Angel Garced, Ramakrishna P. Alur, Denise Cunningham, Edythe Wiggs, Melissa A. Merideth, Pei-Wen Chiang, Shanna Bernstein, Shosuke Ito, Kazumasa Wakamatsu, Rhona M. Jack, Wendy J. Introne, William A. Gahl, Brian P. Brooks

JCI Insight. 2019 Jan 24; 4(2): e124387. Published online 2019 Jan 24. doi: 10.1172/jci.insight.124387

PMCID:: PMC6413781

Article PDF–3.2M

Select item 64110568.

Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1

S Katie Farney, Monika B Dolinska, Yuri V Sergeev

J Anal Pharm Res. Author manuscript; available in PMC 2019 Mar 11.

Published in final edited form as: J Anal Pharm Res. 2018; 7(6): 621–632. Published online 2018 Nov 12. doi: 10.15406/japlr.2018.07.00293

PMCID:: PMC6411056

Article PDF–1.2M

Select item 61813019.

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

Article PDF–939K

Select item 556869410.

Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity

Monika B. Dolinska, Nicole Kus, Katie Farney, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2017 Aug 23.

Published in final edited form as: Pigment Cell Melanoma Res. 2017 Jan; 30(1): 41–52. doi: 10.1111/pcmr.12546

PMCID:: PMC5568694

Article PDF–1.7M

Select item 549362811.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self

Sci Rep. 2017; 7: 4415. Published online 2017 Jun 30. doi: 10.1038/s41598-017-04401-5

PMCID:: PMC5493628

Article PDF–1.8M

Select item 410039312.

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

Article PDF–2.3M

Select item 387933213.

Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

Monika B. Dolinska, Elena Kovaleva, Peter Backlund, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

PLoS One. 2014; 9(1): e84494. Published online 2014 Jan 2. doi: 10.1371/journal.pone.0084494

PMCID:: PMC3879332

Article PDF–11M

Select item 322361814.

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

Ighovie F. Onojafe, David R. Adams, Dimitre R. Simeonov, Jun Zhang, Chi-Chao Chan, Isa M. Bernardini, Yuri V. Sergeev, Monika B. Dolinska, Ramakrishna P. Alur, Murray H. Brilliant, William A. Gahl, Brian P. Brooks

J Clin Invest. 2011 Oct 3; 121(10): 3914–3921. Published online 2011 Sep 26. doi: 10.1172/JCI59372