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Select item 91089841.

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

Abstract Article PDF–2.0M

Select item 87589662.

In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium

Aman George, Ruchi Sharma, Tyler Pfister, Mones Abu-Asab, Nathan Hotaling, Devika Bose, Charles DeYoung, Justin Chang, David R. Adams, Tiziana Cogliati, Kapil Bharti, Brian P. Brooks

Stem Cell Reports. 2022 Jan 11; 17(1): 173–186. Published online 2022 Jan 11. doi: 10.1016/j.stemcr.2021.11.016

PMCID:: PMC8758966

Abstract Article PDF–5.7M

Select item 64110563.

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

Abstract Article PDF–1.2M

Select item 55686944.

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

Abstract Article PDF–1.7M

Select item 41625725.

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, Ahoura Arasteh Kani, Omid Aryani, Mahdi Tondar, Fatemeh Ahmadipour, Lip Yong Chung, Massoud Houshmand

PLoS One. 2014; 9(9): e106656. Published online 2014 Sep 12. doi: 10.1371/journal.pone.0106656

PMCID:: PMC4162572

Abstract Article PDF–939K

Select item 35603886.

Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico

Pedro J. Santiago Borrero, Yolanda Rodríguez-Pérez, Jessicca Y. Renta, Natalio J. Izquierdo, Laura del Fierro, Daniel Muñoz, Norma López Molina, Sonia Ramírez, Glorivee Pagán-Mercado, Idith Ortíz, Enid Rivera-Caragol, Richard A. Spritz, Carmen L. Cadilla

J Invest Dermatol. Author manuscript; available in PMC 2013 Jan 31.

Published in final edited form as: J Invest Dermatol. 2006 Jan; 126(1): 85–90. doi: 10.1038/sj.jid.5700034

PMCID:: PMC3560388

Abstract Article PDF–296K

Select item 12217357.

The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

K Toyofuku, I Wada, R A Spritz, V J Hearing

Biochem J. 2001 Apr 15; 355(Pt 2): 259–269. doi: 10.1042/0264-6021:3550259

PMCID:: PMC1221735

Summary PDF–551K

Select item 109950578.

Data-Driven Thresholding Statistically Biases ATN Profiling across Cohort Datasets

Y. Salimi, D. Domingo-Fernández, M. Hofmann-Apitius, C. Birkenbihl, the Alzheimer’s Disease Neuroimaging Initiative, the Japanese Alzheimer’s Disease Neuroimaging Initiative, the Alzheimer’s Disease Repository Without Borders Investigators, the European Prevention of Alzheimer’s Disease (EPAD) Consortium

J Prev Alzheimers Dis. 2024; 11(1): 185–195. Published online 2023 Sep 6. doi: 10.14283/jpad.2023.100

PMCID:: PMC10995057

Abstract Article PDF–1.1M

Select item 109403609.

Whole genome sequencing identifies novel mutations in malaria parasites resistant to artesunate (ATN) and to ATN + mefloquine combination

Gustavo Capatti Cassiano, Axel Martinelli, Melina Mottin, Bruno Junior Neves, Carolina Horta Andrade, Pedro Eduardo Ferreira, Pedro Cravo

Front Cell Infect Microbiol. 2024; 14: 1353057. Published online 2024 Mar 1. doi: 10.3389/fcimb.2024.1353057

PMCID:: PMC10940360

Abstract Article PDF–955K

Select item 1087941310.

Modifiable dementia risk factors and AT(N) biomarkers: findings from the EPAD cohort

Eddy Roccati, Aidan David Bindoff, Jessica Marie Collins, Joshua Eastgate, Jay Borchard, Jane Alty, Anna Elizabeth King, James Clement Vickers, Margherita Carboni, Chad Logan, EPAD Consortium

Front Aging Neurosci. 2024; 16: 1346214. Published online 2024 Feb 7. doi: 10.3389/fnagi.2024.1346214

PMCID:: PMC10879413

Abstract Article PDF–1.4M

Select item 1084808911.

Alzheimer's disease diagnostic accuracy by fluid and neuroimaging ATN framework

Xi Xiong, Haijun He, Qianqian Ye, Shuangjie Qian, Shuoting Zhou, Feifei Feng, Evandro F. Fang, Chenglong Xie

CNS Neurosci Ther. 2024 Feb; 30(2): e14357. Published online 2023 Jul 12. doi: 10.1111/cns.14357

PMCID:: PMC10848089

Abstract Article PDF–9.9M

Select item 1084807712.

A data‐driven approach to complement the A/T/(N) classification system using CSF biomarkers

Laura Hernández‐Lorenzo, Maria José Gil‐Moreno, Isabel Ortega‐Madueño, Maria Cruz Cárdenas, Maria Diez‐Cirarda, Alfonso Delgado‐Álvarez, Marta Palacios‐Sarmiento, Jorge Matias‐Guiu, Silvia Corrochano, José L. Ayala, Jordi A. Matias‐Guiu, for the Alzheimer's Disease Neuroimaging Initiative

CNS Neurosci Ther. 2024 Feb; 30(2): e14382. Published online 2023 Jul 27. doi: 10.1111/cns.14382

PMCID:: PMC10848077

Abstract Article PDF–3.0M

Select item 1084064313.

ATN cerebrospinal fluid biomarkers in dementia with Lewy bodies: Initial results from the United States Dementia with Lewy Bodies Consortium

Lavanya Jain, Maria Khrestian, Shane Formica, Elizabeth D. Tuason, Jagan A. Pillai, Stephen Rao, Odinachi Oguh, Carol F. Lippa, Oscar L. Lopez, Sarah B. Berman, Debby W. Tsuang, Cyrus P. Zabetian, David J. Irwin, Douglas R. Galasko, Irene Litvan, Karen S. Marder, Lawrence S. Honig, Jori E. Fleisher, James E. Galvin, Andrea C. Bozoki, Angela S. Taylor, Marwan N. Sabbagh, James B. Leverenz, Lynn M. Bekris

Alzheimers Dement. 2024 Jan; 20(1): 549–562. Published online 2023 Sep 23. doi: 10.1002/alz.13398

PMCID:: PMC10840643

Abstract Article PDF–2.6M

Select item 1084061514.

AT(N) biomarker profiles and Alzheimer's disease symptomology in Down syndrome

Sigan L. Hartley, Benjamin Handen, Dana Tudorascu, Laisze Lee, Annie Cohen, Emily K. Schworer, Jamie C. Peven, Matthew Zammit, William Klunk, Charles Laymon, Davneet Minhas, Weiquan Luo, Shahid Zaman, Beau Ances, Gregory Preboske, Bradley T. Christian, the Alzheimer Biomarker Consortium – Down Syndrome

Alzheimers Dement. 2024 Jan; 20(1): 366–375. Published online 2023 Aug 28. doi: 10.1002/alz.13446

PMCID:: PMC10840615

Abstract Article PDF–740K

Select item 1082808115.

ATN Classification and Clinical Progression of the Amyloid-Negative Group in Alzheimer’s Disease Neuroimaging Initiative Participants

Soo Hyun Cho, Shina Kim, Seong-Min Choi, Byeong Chae Kim, for the Alzheimer’s Disease Neuroimaging Initiative

Chonnam Med J. 2024 Jan; 60(1): 51–58. Published online 2024 Jan 25. doi: 10.4068/cmj.2024.60.1.51

PMCID:: PMC10828081

Abstract Article PDF–886K

Select item 1082766016.

Individual regional associations between Aβ-, tau- and neurodegeneration (ATN) with microglial activation in patients with primary and secondary tauopathies

Anika Finze, Gloria Biechele, Boris-Stephan Rauchmann, Nicolai Franzmeier, Carla Palleis, Sabrina Katzdobler, Endy Weidinger, Selim Guersel, Sebastian Schuster, Stefanie Harris, Julia Schmitt, Leonie Beyer, Johannes Gnörich, Simon Lindner, Nathalie L. Albert, Christian H. Wetzel, Rainer Rupprecht, Axel Rominger, Adrian Danek, Lena Burow, Carolin Kurz, Maia Tato, Julia Utecht, Boris Papazov, Mirlind Zaganjori, Lena-Katharina Trappmann, Oliver Goldhardt, Timo Grimmer, Jan Haeckert, Daniel Janowitz, Katharina Buerger, Daniel Keeser, Sophia Stoecklein, Olaf Dietrich, Estrella Morenas-Rodriguez, Henryk Barthel, Osama Sabri, Peter Bartenstein, Mikael Simons, Christian Haass, Günter U. Höglinger, Johannes Levin, Robert Perneczky, Matthias Brendel

Mol Psychiatry. 2023; 28(10): 4438–4450. Published online 2023 Jul 26. doi: 10.1038/s41380-023-02188-8

PMCID:: PMC10827660

Abstract Article PDF–4.6M

Select item 1080395817.

Emerging role of vascular burden in AT(N) classification in individuals with Alzheimer’s and concomitant cerebrovascular burdens

Min Young Chun, Hyemin Jang, Soo-Jong Kim, Yu Hyun Park, Jihwan Yun, Samuel N Lockhart, Michael Weiner, Charles De Carli, Seung Hwan Moon, Jae Yong Choi, Kyung Rok Nam, Byung-Hyun Byun, Sang-Moo Lim, Jun Pyo Kim, Yeong Sim Choe, Young Ju Kim, Duk L Na, Hee Jin Kim, Sang Won Seo

J Neurol Neurosurg Psychiatry. 2024 Jan; 95(1): 44–51. Published online 2023 Aug 9. doi: 10.1136/jnnp-2023-331603

PMCID:: PMC10803958

Abstract Article PDF–1.9M

Select item 1065768218.

Medial Temporal Lobe Atrophy in Predementia Alzheimer’s Disease: A Longitudinal Multi-Site Study Comparing Staging and A/T/N in a Clinical Research Cohort

Jonas Alexander Jarholm, Atle Bjørnerud, Turi Olene Dalaker, Mehdi Sadat Akhavi, Bjørn Eivind Kirsebom, Lene Pålhaugen, Kaja Nordengen, Gøril Rolfseng Grøntvedt, Arne Nakling, Lisa F. Kalheim, Ina S. Almdahl, Sandra Tecelão, Tormod Fladby, Per Selnes

J Alzheimers Dis. 2023; 94(1): 259–279. Prepublished online 2023 May 20. Published online 2023 Jun 27. doi: 10.3233/JAD-221274

Correction in:: J Alzheimers Dis. 2023; 96(2): 859–860.

PMCID:: PMC10657682

Abstract Article PDF–671K

Select item 1058667419.

Identification of preclinical dementia according to ATN classification for stratified trial recruitment: A machine learning approach

Ivan Koychev, Evgeniy Marinov, Simon Young, Sophia Lazarova, Denitsa Grigorova, Dean Palejev

PLoS One. 2023; 18(10): e0288039. Published online 2023 Oct 19. doi: 10.1371/journal.pone.0288039

PMCID:: PMC10586674

Abstract Article PDF–1.0M

Select item 1058333220.

Neuroimaging of tissue microstructure as a marker of neurodegeneration in the AT(N) framework: defining abnormal neurodegeneration and improving prediction of clinical status

Rigina L. Gallagher, Rebecca Langhough Koscik, Jason F. Moody, Nicholas M. Vogt, Nagesh Adluru, Steven R. Kecskemeti, Carol A. Van Hulle, Nathaniel A. Chin, Sanjay Asthana, Gwendlyn Kollmorgen, Ivonne Suridjan, Cynthia M. Carlsson, Sterling C. Johnson, Douglas C. Dean, III, Henrik Zetterberg, Kaj Blennow, Andrew L. Alexander, Barbara B. Bendlin

Alzheimers Res Ther. 2023; 15: 180. Published online 2023 Oct 17. doi: 10.1186/s13195-023-01281-y

PMCID:: PMC10583332

Abstract Article PDF–1.5M

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