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Items: 1 to 20 of 4623

1.
Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder
John P Bourke, Yi Shiau Ng, Margaret Tynan, Matthew G D Bates, Saidi Mohiddin, Doug Turnbull, Grainne S Gorman
Open Heart. 2022; 9(1): e001819. Published online 2022 Apr 6. doi: 10.1136/openhrt-2021-001819
PMCID:
PMC8991061
ArticlePDF–1.1M
2.
Two Angelman Families with Unusually Advanced Neurodevelopment Carry a Start Codon Variant in the Most Highly Expressed UBE3A Isoform
Anjali Sadhwani, Neville E. Sanjana, Jennifer M. Willen, Stephen N. Calculator, Emily D. Black, Lora J.H. Bean, Hong Li, Wen-Hann Tan
Am J Med Genet A. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Am J Med Genet A. 2018 Jul; 176(7): 1641–1647. Published online 2018 May 7. doi: 10.1002/ajmg.a.38831
PMCID:
PMC6117199
ArticlePDF–220K
3.
Prolonged Jaundice in a Premature Breastfed Infant With Gilbert’s Syndrome
Frances Strobl, Melissa Ann Theurich
J Hum Lact. 2024 May; 40(2): 270–275. Published online 2024 Feb 9. doi: 10.1177/08903344241227226
PMCID:
PMC11015704
ArticlePDF–1.0M
4.
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Kong
Orphanet J Rare Dis. 2024; 19: 160. Published online 2024 Apr 12. doi: 10.1186/s13023-024-03170-5
PMCID:
PMC11015673
ArticlePDF–3.5M
5.
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong-Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella
Nat Commun. 2024; 15: 3182. Published online 2024 Apr 12. doi: 10.1038/s41467-024-47485-0
PMCID:
PMC11015039
ArticlePDF–16M
6.
Possible involvement of zinc transporter ZIP13 in myogenic differentiation
Masaki Shoji, Takuto Ohashi, Saki Nagase, Haato Yuri, Kenta Ichihashi, Teruhisa Takagishi, Yuji Nagata, Yuki Nomura, Ayako Fukunaka, Sae Kenjou, Hatsuna Miyake, Takafumi Hara, Emi Yoshigai, Yoshio Fujitani, Hidetoshi Sakurai, Heloísa G. dos Santos, Toshiyuki Fukada, Takashi Kuzuhara
Sci Rep. 2024; 14: 8052. Published online 2024 Apr 12. doi: 10.1038/s41598-024-56912-7
PMCID:
PMC11014994
ArticlePDF–2.6M
7.
Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut
Dennis Piotrowski, Erik K. H. Clemensson, Huu Phuc Nguyen, Melanie D. Mark
Sci Rep. 2024; 14: 8571. Published online 2024 Apr 13. doi: 10.1038/s41598-024-59187-0
PMCID:
PMC11014858
ArticlePDF–2.9M
8.
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Avilés, Miguel Tamayo-Caro, Aroa Ferrer-Pinós, Cecilia Huarte-Sebastian, Vanesa Alvarez, Cristina Riobello, Selene Jiménez-Vega, Izaskun Buendia, Jorge Cañas-Martin, Héctor Fernández-Susavila, Adrián Aparicio-Rey, Eva M. Esquinas-Román, Carlos Rodríguez Ponte, Romane Guhl, Nicolas Laville, Encarni Pérez-Andrés, José L. Lavín, Monika González-Lopez, Nuria Macías Cámara, Ana M. Aransay, Juan José Lozano, James D. Sutherland, Rosa Barrio, María Luz Martinez-Chantar, Mikel Azkargorta, Félix Elortza, Mario Soriano-Navarro, Carlos Matute, María Victoria Sánchez-Gómez, Laura Bayón-Cordero, Alberto Pérez-Samartín, Susana B. Bravo, Thimo Kurz, Tomas Lama-Díaz, Miguel G. Blanco, Saif Haddad, Christopher J. Record, Peter M. van Hasselt, Mary M. Reilly, Marta Varela-Rey, Ashwin Woodhoo
Sci Adv. 2024 Apr 12; 10(15): eadm7600. Published online 2024 Apr 12. doi: 10.1126/sciadv.adm7600
PMCID:
PMC11014456
ArticlePDF–14M
9.
Prebiotic Strategies to Manage Lactose Intolerance Symptoms
Gloria Angima, Yunyao Qu, Si Hong Park, David C. Dallas
Nutrients. 2024 Apr; 16(7): 1002. Published online 2024 Mar 29. doi: 10.3390/nu16071002
PMCID:
PMC11013211
ArticlePDF–732K
10.
A Review of the Repair of DNA Double Strand Breaks in the Development of Oral Cancer
Stephen S. Prime, Piotr Darski, Keith D. Hunter, Nicola Cirillo, E. Kenneth Parkinson
Int J Mol Sci. 2024 Apr; 25(7): 4092. Published online 2024 Apr 7. doi: 10.3390/ijms25074092
PMCID:
PMC11012950
ArticlePDF–1.5M
11.
Spinocerebellar Ataxia Type 3 Pathophysiology—Implications for Translational Research and Clinical Studies
Fabian Stahl, Bernd O. Evert, Xinyu Han, Peter Breuer, Ullrich Wüllner
Int J Mol Sci. 2024 Apr; 25(7): 3984. Published online 2024 Apr 3. doi: 10.3390/ijms25073984
PMCID:
PMC11012515
ArticlePDF–1.9M
12.
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy
Alexandra Pérez-Serra, Rocío Toro, Estefanía Martinez-Barrios, Anna Iglesias, Anna Fernandez-Falgueras, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Bernat del Olmo, Ferran Picó, Laura Lopez, Elena Arbelo, Sergi Cesar, Coloma Tiron de Llano, Alipio Mangas, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano
Int J Mol Sci. 2024 Apr; 25(7): 3807. Published online 2024 Mar 29. doi: 10.3390/ijms25073807
PMCID:
PMC11012211
ArticlePDF–1.1M
13.
Stress-Induced Changes in Nucleocytoplasmic Localization of Crucial Factors in Gene Expression Regulation
Ali Khamit, Payal Chakraborty, Szabolcs Zahorán, Zoltán Villányi, Hajnalka Orvos, Edit Hermesz
Int J Mol Sci. 2024 Apr; 25(7): 3895. Published online 2024 Mar 31. doi: 10.3390/ijms25073895
PMCID:
PMC11012061
ArticlePDF–7.6M
14.
Polycystin-2 Mediated Calcium Signalling in the Dictyostelium Model for Autosomal Dominant Polycystic Kidney Disease
Claire Y. Allan, Oana Sanislav, Paul R. Fisher
Cells. 2024 Apr; 13(7): 610. Published online 2024 Mar 31. doi: 10.3390/cells13070610
PMCID:
PMC11012017
ArticlePDF–12M
15.
Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model
Louise Medaer, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi, Rik Gijsbers
Cells. 2024 Apr; 13(7): 646. Published online 2024 Apr 6. doi: 10.3390/cells13070646
PMCID:
PMC11011962
ArticlePDF–5.9M
16.
Huntington’s Disease: Complex Pathogenesis and Therapeutic Strategies
Huichun Tong, Tianqi Yang, Shuying Xu, Xinhui Li, Li Liu, Gongke Zhou, Sitong Yang, Shurui Yin, Xiao-Jiang Li, Shihua Li
Int J Mol Sci. 2024 Apr; 25(7): 3845. Published online 2024 Mar 29. doi: 10.3390/ijms25073845
PMCID:
PMC11011923
ArticlePDF–508K
17.
Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism
Leon-Phillip Szepanowski, Wasco Wruck, Julia Kapr, Andrea Rossi, Ellen Fritsche, Jean Krutmann, James Adjaye
Cells. 2024 Apr; 13(7): 591. Published online 2024 Mar 28. doi: 10.3390/cells13070591
PMCID:
PMC11011893
ArticlePDF–22M
18.
More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans
Chenelle A. Caron-Godon, Emma Collington, Jessica L. Wolf, Genna Coletta, D. Moira Glerum
Int J Mol Sci. 2024 Apr; 25(7): 3814. Published online 2024 Mar 29. doi: 10.3390/ijms25073814
PMCID:
PMC11011759
ArticlePDF–991K
19.
Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis
Wilfredo De Jesús-Rojas, Zachary J. Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M. Quiñones, Marcos J. Ramos-Benitez, Ricardo A. Mosquera
Cells. 2024 Apr; 13(7): 567. Published online 2024 Mar 24. doi: 10.3390/cells13070567
PMCID:
PMC11011699
ArticlePDF–2.0M
20.
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines
Silvana Pileggi, Elisa A. Colombo, Silvia Ancona, Roberto Quadri, Clara Bernardelli, Patrizia Colapietro, Michela Taiana, Laura Fontana, Monica Miozzo, Elena Lesma, Silvia M. Sirchia
Int J Mol Sci. 2024 Apr; 25(7): 3586. Published online 2024 Mar 22. doi: 10.3390/ijms25073586
PMCID:
PMC11011696
ArticlePDF–2.6M

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