PMC Articles for MedGen (Select 332307) - PMC

Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza

Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957

PMCID:: PMC9266604

Abstract Article PDF–2.6M

Select item 74795124.

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Genevieve A. Wright, Michalis Georgiou, Anthony G. Robson, Naser Ali, Ambreen Kalhoro, SM Kleine Holthaus, Nikolas Pontikos, Ngozi Oluonye, Emanuel R. de Carvalho, Magella M. Neveu, Richard G. Weleber, Michel Michaelides

Ophthalmol Retina. 2020 Apr; 4(4): 433–445. doi: 10.1016/j.oret.2019.11.005

PMCID:: PMC7479512

Abstract Article PDF–4.6M

Select item 68642745.

Hereditary β-mannosidosis in a dog: clinicopathological and molecular genetic characterization

Pompei Bolfa, Ping Wang, Rajeev Nair, Sreekumari Rajeev, Anibal G. Armien, Paula S. Henthorn, Tim Wood, Mary Anna Thrall, Urs Giger

Mol Genet Metab. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 137–143. Published online 2019 Aug 10. doi: 10.1016/j.ymgme.2019.08.002

PMCID:: PMC6864274

Abstract Article PDF–1.2M

Select item 63073196.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber

Acta Neuropathol Commun. 2018; 6: 145. Published online 2018 Dec 27. doi: 10.1186/s40478-018-0646-6

PMCID:: PMC6307319

Abstract Article PDF–3.9M

Select item 62043817.

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)

Daniela Parisi, Olimpia Musumeci, Stefania Mondello, Teresa Brizzi, Rosaria Oteri, Alba Migliorato, Annamaria Ciranni, Tiziana E. Mongini, Carmelo Rodolico, Giuseppe Vita, Antonio Toscano

Front Neurol. 2018; 9: 880. Published online 2018 Oct 22. doi: 10.3389/fneur.2018.00880

PMCID:: PMC6204381

Abstract Article PDF–839K

Select item 60771568.

Imaging mass spectrometry for toxicity assessment: a useful technique to confirm drug distribution in histologically confirmed lesions

Akane Kashimura, Kouji Tanaka, Hiroko Sato, Hidefumi Kaji, Masaharu Tanaka

J Toxicol Pathol. 2018 Jul; 31(3): 221–227. Published online 2018 May 3. doi: 10.1293/tox.2018-0006

PMCID:: PMC6077156

Abstract Article PDF–3.8M

Select item 59180399.

Light and Electron Microscopic Study of Vacuolated Cells in Immunoblastic Lymphadenopathy‐like T‐Cell Lymphoma

Yuko Hirose, Shiro Shimizu, Ritsuko Yoshioka, Junko Tachibana, Susumu Sugai, Tomoo Takiguchi, Susumu Konda

Jpn J Cancer Res. 1990 Apr; 81(4): 376–382. doi: 10.1111/j.1349-7006.1990.tb02578.x

PMCID:: PMC5918039

Summary PDF–644K

Select item 286118210.

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg

J Inherit Metab Dis. 2010; 33(2): 133–139. Published online 2010 Jan 27. doi: 10.1007/s10545-009-9027-4

PMCID:: PMC2861182

Abstract Article PDF–168K

Select item 185740711.

Batten disease: features to facilitate early diagnosis

J Collins, G E Holder, H Herbert, G G W Adams

Br J Ophthalmol. 2006 Sep; 90(9): 1119–1124. doi: 10.1136/bjo.2006.091637

PMCID:: PMC1857407

Abstract Article PDF–202K

Select item 1110752312.

Disruption of calcitonin gene-related peptide signaling accelerates muscle denervation and dampens cytotoxic neuroinflammation in SOD1 mutant mice

Cornelia Ringer, Sarah Tune, Mirjam A Bertoune, Hans Schwarzbach, Kazutake Tsujikawa, Eberhard Weihe, Burkhard Schütz

Cell Mol Life Sci. 2017 Jan; 74(2): 339–358. Published online 2016 Aug 23. doi: 10.1007/s00018-016-2337-4

PMCID:: PMC11107523

Abstract Article PDF–2.7M

Select item 1040094713.

The helicase-like transcription factor redirects the autophagic flux and restricts human T cell leukemia virus type 1 infection

Aurélie Beauvois, Hélène Gazon, Pradeep Singh Chauhan, Majeed Jamakhani, Jean-Rock Jacques, Marc Thiry, Emmanuel Dejardin, Emmanuel Di Valentin, Jean-Claude Twizere, Jean-Marie Péloponèse, Makon-Sébastien Njock, Jun-Ichirou Yasunaga, Masao Matsuoka, Malik Hamaïdia, Luc Willems

Proc Natl Acad Sci U S A. 2023 Aug 1; 120(31): e2216127120. Published online 2023 Jul 24. doi: 10.1073/pnas.2216127120

PMCID:: PMC10400947

Abstract Article PDF–5.5M

Select item 1024083914.

Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia

Siba El Hussein, Andrew G. Evans, John M. Fitzsimmons, Nufatt Leong, Meghan Buldo, Jeremy P. Segal, Audrey N. Jajosky, Paul G. Rothberg, Jane L. Liesveld, Zoltán N. Oltvai

Cold Spring Harb Mol Case Stud. 2023 Apr; 9(2): a006241. doi: 10.1101/mcs.a006241

PMCID:: PMC10240839

Abstract Article PDF–2.3M

Select item 911872515.

Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis

Kyla A. Britson, Jonathan P. Ling, Kerstin E. Braunstein, Janelle M. Montagne, Jenna M. Kastenschmidt, Andrew Wilson, Chiseko Ikenaga, William Tsao, Iago Pinal-Fernandez, Katelyn A. Russell, Nicole Reed, Tahseen Mozaffar, Kathryn R. Wagner, Lyle W. Ostrow, Andrea M. Corse, Andrew L. Mammen, S. Armando Villalta, H. Benjamin Larman, Philip C. Wong, Thomas E. Lloyd

Sci Transl Med. Author manuscript; available in PMC 2022 May 19.

Published in final edited form as: Sci Transl Med. 2022 Jan 19; 14(628): eabi9196. Published online 2022 Jan 19. doi: 10.1126/scitranslmed.abi9196

PMCID:: PMC9118725

Abstract Article PDF–3.5M

Select item 881655116.

Bisphenol A Induces Histopathological, Hematobiochemical Alterations, Oxidative Stress, and Genotoxicity in Common Carp (Cyprinus carpio L.)

Gulnaz Afzal, Hafiz Ishfaq Ahmad, Riaz Hussain, Adil Jamal, Shumaila Kiran, Tarique Hussain, Saba Saeed, Mehr un Nisa

Oxid Med Cell Longev. 2022; 2022: 5450421. Published online 2022 Jan 28. doi: 10.1155/2022/5450421

PMCID:: PMC8816551

Abstract Article PDF–2.3M

Select item 854829617.

Rhesus macaques self-curing from a schistosome infection can display complete immunity to challenge

Murilo Sena Amaral, Daisy Woellner Santos, Adriana S. A. Pereira, Ana Carolina Tahira, João V. M. Malvezzi, Patrícia Aoki Miyasato, Rafaela de Paula Freitas, Jorge Kalil, Elisa M. Tjon Kon Fat, Claudia J. de Dood, Paul L. A. M. Corstjens, Govert J. van Dam, Eliana Nakano, Simone de Oliveira Castro, Vânia Gomes de Moura Mattaraia, Ronaldo de Carvalho Augusto, Christoph Grunau, R. Alan Wilson, Sergio Verjovski-Almeida

Nat Commun. 2021; 12: 6181. Published online 2021 Oct 26. doi: 10.1038/s41467-021-26497-0

PMCID:: PMC8548296

Abstract Article PDF–1.8M

Select item 853802618.

Inactivation of HIV-1 in Polarized Infant Tonsil Epithelial Cells by Human Beta-Defensins 2 and 3 Tagged with the Protein Transduction Domain of HIV-1 Tat

Rossana Herrera, Kristina Rosbe, Sharof M. Tugizov

Viruses. 2021 Oct; 13(10): 2043. Published online 2021 Oct 11. doi: 10.3390/v13102043

PMCID:: PMC8538026

Abstract Article PDF–49M

Select item 832959619.

Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma

Yujuan Wang, Mones S. Abu-Asab, Defen Shen, Zhengping Zhuang, Emily Y. Chew, Chi-Chao Chan

Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2021 Aug 3.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2014 Aug; 252(8): 1319–1327. Published online 2014 May 24. doi: 10.1007/s00417-014-2660-0

PMCID:: PMC8329596

Abstract Article PDF–915K

Select item 784755120.

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha Patel, Kalpana Manthiram, Emma M. Groarke, Fernanda Gutierrez-Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W. Dillon, Christopher S. Hourigan, Wanxia L. Tsai, Sarthak Gupta, Carmelo Carmona-Rivera, Anthony J. Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S. Barron, Michele Nehrebecky, Anne Jones, Ryan S. Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V. Wells, Chyi-Chia R. Lee, Weixin Wang, Megan Trick, James Mullikin, Gustaf Wigerblad, Stephen Brooks, Stefania Dell’Orso, Zuoming Deng, Jae J. Chae, Alina Dulau-Florea, May C.V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu-Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson

N Engl J Med. Author manuscript; available in PMC 2021 Jun 30.

Published in final edited form as: N Engl J Med. 2020 Dec 31; 383(27): 2628–2638. Published online 2020 Oct 27. doi: 10.1056/NEJMoa2026834

PMCID:: PMC7847551

Abstract Article PDF–1.3M

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