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Select item 51212891.

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz

Mol Genet Metab Rep. 2014; 1: 98–102. Published online 2014 Feb 27. doi: 10.1016/j.ymgmr.2014.01.002

PMCID:: PMC5121289

Abstract Article PDF–382K

Select item 69054562.

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

Genet Mol Biol. 2019 Jul-Sep; 42(3): 571–573. Published online 2019 Nov 14. doi: 10.1590/1678-4685-GMB-2018-0246

PMCID:: PMC6905456

Abstract Article PDF–432K

Select item 76878583.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova

Dis Model Mech. 2020 Nov 1; 13(11): dmm046425. Published online 2020 Nov 18. doi: 10.1242/dmm.046425

PMCID:: PMC7687858

Abstract Article

Select item 49078434.

Mucolipidosis III GNPTG missense mutations cause misfolding of the γ subunit of GlcNAc-1-phosphotransferase

Eline van Meel, Stuart Kornfeld

Hum Mutat. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 623–626. Published online 2016 Apr 22. doi: 10.1002/humu.22993

PMCID:: PMC4907843

Abstract Article PDF–700K

Select item 56154335.

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

Pediatr Rheumatol Online J. 2017; 15: 72. Published online 2017 Sep 26. doi: 10.1186/s12969-017-0200-2

PMCID:: PMC5615433

Abstract Article PDF–852K

Select item 63297796.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II

Yu Wang, Jun Ye, Wen-juan Qiu, Lian-shu Han, Xiao-lan Gao, Li-li Liang, Xue-fan Gu, Hui-wen Zhang

Acta Pharmacol Sin. 2019 Feb; 40(2): 279–287. Published online 2018 Jun 5. doi: 10.1038/s41401-018-0023-9

PMCID:: PMC6329779

Abstract Article PDF–715K

Select item 41969417.

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ

Rachel A. Idol, David F. Wozniak, Hideji Fujiwara, Carla M. Yuede, Daniel S. Ory, Stuart Kornfeld, Peter Vogel

PLoS One. 2014; 9(10): e109768. Published online 2014 Oct 14. doi: 10.1371/journal.pone.0109768

Correction in:: PLoS One. 2014; 9(11): e114199.

PMCID:: PMC4196941

Abstract Article PDF–17M

Select item 68248878.

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany, Erlane M. Ribeiro, Charles M. Lourenço, Chong Ae Kim, Eugênia R. Valadares, Marcial Francis Galera, Angelina X. Acosta, Dafne Dain Gandelman Horovitz, Ida Vanessa Doederlein Schwartz

J Pediatr Genet. 2019 Dec; 8(4): 198–204. Published online 2019 Sep 24. doi: 10.1055/s-0039-1697605

PMCID:: PMC6824887

Abstract Article PDF–221K

Select item 110837919.

The Immune Response of OAS1, IRF9, and IFI6 Genes in the Pathogenesis of COVID-19

Malena Gajate-Arenas, Ingrid Fricke-Galindo, Omar García-Pérez, Angélica Domínguez-de-Barros, Gloria Pérez-Rubio, Roberto Dorta-Guerra, Ivette Buendía-Roldán, Leslie Chávez-Galán, Jacob Lorenzo-Morales, Ramcés Falfán-Valencia, Elizabeth Córdoba-Lanús

Int J Mol Sci. 2024 May; 25(9): 4632. Published online 2024 Apr 24. doi: 10.3390/ijms25094632

PMCID:: PMC11083791

Abstract Article PDF–1.0M

Select item 1106702510.

TRAF3 loss-of-function reveals the noncanonical NF-κB pathway as a therapeutic target in diffuse large B cell lymphoma

Michael Y. Li, Lauren C. Chong, Gerben Duns, Andrew Lytle, Bruce Woolcock, Aixiang Jiang, Adèle Telenius, Susana Ben-Neriah, Waqas Nawaz, Graham W. Slack, Ingrid Elisia, Elena Viganò, Tomohiro Aoki, Shannon Healy, Gerald Krystal, Leandro Venturutti, David W. Scott, Christian Steidl

Proc Natl Acad Sci U S A. 2024 Apr 30; 121(18): e2320421121. Published online 2024 Apr 25. doi: 10.1073/pnas.2320421121

PMCID:: PMC11067025

Abstract Article PDF–4.2M

Select item 1108213811.

Novel betaherpesviruses and gammaherpesviruses in bats from central China

Shuhui Duan, Zemin Li, Xu Zhang, Xue-Jie Yu

Sci Rep. 2024; 14: 10651. Published online 2024 May 9. doi: 10.1038/s41598-024-61290-1

PMCID:: PMC11082138

Abstract Article PDF–1.6M

Select item 1108163312.

Downregulation of Mirlet7 miRNA family promotes Tc17 differentiation and emphysema via de-repression of RORγt

Phillip A Erice, Xinyan Huang, Matthew J Seasock, Matthew J Robertson, Hui-Ying Tung, Melissa A Perez-Negron, Shivani L Lotlikar, David B Corry, Farrah Kheradmand, Antony Rodriguez

eLife. 2024; 13: RP92879. Published online 2024 May 9. doi: 10.7554/eLife.92879

PMCID:: PMC11081633

Abstract Article PDF–2.8M

Select item 1108154713.

Association of dietary nutrient intake with type 2 diabetes: A Mendelian randomization study

Ruixiang Kang, Dong Guo, Jiawei Wang, Zhencong Xie

Medicine (Baltimore) 2024 May 10; 103(19): e38090. Published online 2024 May 10. doi: 10.1097/MD.0000000000038090

PMCID:: PMC11081547

Abstract Article PDF–1.8M

Select item 1108024414.

Genetic markers of cardiac autonomic neuropathy in the Kazakh population

Nazira Bekenova, Ainur Sibagatova, Alisher Aitkaliyev, Tamara Vochshenkova, Balzhan Kassiyeva, Valeriy Benberin

BMC Cardiovasc Disord. 2024; 24: 242. Published online 2024 May 9. doi: 10.1186/s12872-024-03912-0

PMCID:: PMC11080244

Abstract Article PDF–1.2M

Select item 1108012315.

IL-2RG as a possible immunotherapeutic target in CRC predicting poor prognosis and regulated by miR-7-5p and miR-26b-5p

Ehsan Gharib, Leili Rejali, Moein Piroozkhah, Elham Zonoobi, Parinaz Nasri Nasrabadi, Zahra Arabsorkhi, Kaveh Baghdar, Elahe Shams, Amir Sadeghi, Peter J. K. Kuppen, Zahra Salehi, Ehsan Nazemalhosseini-Mojarad

J Transl Med. 2024; 22: 439. Published online 2024 May 8. doi: 10.1186/s12967-024-05251-2

PMCID:: PMC11080123

Abstract Article PDF–4.5M

Select item 1107680416.

Prostate cancer therapy using immune checkpoint molecules to target recombinant dendritic cells

Se Young Choi, Yunlim Kim, Bumjin Lim, Chung Beum Wee, In Ho Chang, Choung-Soo Kim

Investig Clin Urol. 2024 May; 65(3): 300–310. Published online 2024 Apr 17. doi: 10.4111/icu.20230348

PMCID:: PMC11076804

Abstract Article PDF–17M

Select item 1107604317.

Molecular dissection of PI3Kβ synergistic activation by receptor tyrosine kinases, GβGγ, and Rho-family GTPases

Benjamin R Duewell, Naomi E Wilson, Gabriela M Bailey, Sarah E Peabody, Scott D Hansen

eLife. 2024; 12: RP88991. Published online 2024 May 7. doi: 10.7554/eLife.88991

PMCID:: PMC11076043

Abstract Article PDF–3.0M

Select item 1107481118.

KRAS Allelic Variants in Biliary Tract Cancers

Gordon Taylor Moffat, Zishuo Ian Hu, Funda Meric-Bernstam, Elisabeth Kathleen Kong, Dean Pavlick, Jeffrey S. Ross, Karthikeyan Murugesan, Lawrence Kwong, Anaemy Danner De Armas, Anil Korkut, Milind Javle, Jennifer J. Knox

JAMA Netw Open. 2024 May; 7(5): e249840. Published online 2024 May 6. doi: 10.1001/jamanetworkopen.2024.9840

PMCID:: PMC11074811

Abstract Article

Select item 1107402119.

Multiple gene-drug prediction tool reveals Rosiglitazone based treatment pathway for non-segmental vitiligo

Sijia Zhao, Xi Chen, Kuheli Dutta, Jia Chen, Juan Wang, Qian Zhang, Hong Jia, Jianfang Sun, Yongxian Lai

Inflammation. 2024; 47(2): 678–695. Published online 2023 Dec 30. doi: 10.1007/s10753-023-01937-9

PMCID:: PMC11074021

Abstract Article PDF–6.0M

Select item 1107401320.

PGC-1α activation boosts exercise-dependent cellular response in the skeletal muscle

Soroosh Mozaffaritabar, Erika Koltai, Lei Zhou, Zoltan Bori, Attila Kolonics, Sylwester Kujach, Yaodong Gu, Atsuko Koike, Anita Boros, Zsolt Radák

J Physiol Biochem. 2024; 80(2): 329–335. Published online 2024 Jan 23. doi: 10.1007/s13105-024-01006-1

PMCID:: PMC11074013

Abstract Article PDF–872K

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