Results 181 to 190 of about 205,159 (276)

Evaluation of haemoglobin constant spring phenotypes and their haematological characteristics among high school students in Terengganu, Malaysia: A single - centred study. [PDF]

Saudi Med J
Embong SF, Adzahar S, Daud A, Nordin MH, Halim SA, Embong WZW, Rameli N, Zulkeflee RH, Bahar R.   +8 more
europepmc   +1 more source

The link of FOXO1 and FOXO4 transcription factors to development of the lens

Developmental Dynamics, EarlyView.
Abstract Background The FOXOs regulate the transcription of many genes, including ones directly linked to pathways required for lens development. However, this transcription factor family has rarely been studied in the context of development, including the development of the lens.
Rifah N. Gheyas, Ruby C. Williams, Kelly A. Ryan, A. Sue Menko   +3 more
wiley   +1 more source

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022
Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen, Romy L. S. Mesman, Thomas V. O. Hansen, Mireia Menendez, Maria Rossing, Ada Esteban‐Sánchez, Emma Tudini, Therese Törngren, Michael T. Parsons, Inge S. Pedersen, Soo H. Teo, Torben A. Kruse, Pål Møller, Åke Borg, Uffe B. Jensen, Lise L. Christensen, Christian F. Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage S. Andresen, Bing‐Jian Feng, Daffodil Canson, Marcy E. Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R. Conner, Nelly Abualkheir, Lily Hoang, Fabienne M. G. R. Calléja, Lesley Andrews, Paul A. James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E. Goldgar, Logan C. Walker, Christoph Engel, Kathleen B. M. Claes, Eva Macháčková, Diana Baralle, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, ENIGMA Consortium, Maaike P. G. Vreeswijk, Miguel de la Hoya, Amanda B. Spurdle   +49 more
wiley   +1 more source

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. [PDF]

Brain Commun
Livanos I, Votsi C, Michailidou K, Pellerin D, Brais B, Zuchner S, Pantzaris M, Kleopa KA, Zamba Papanicolaou E, Christodoulou K.   +9 more
europepmc   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt   +17 more
wiley   +1 more source

Evaluation of a cIEF Fractionation Workflow for Offline MS Analysis of Charge Variants of the Monoclonal Antibody Matuzumab. [PDF]

Electrophoresis
Wittmann A, Wilke Y, Grammel N, Wätzig H.   +3 more
europepmc   +1 more source

Evaluation of the multiplex PCR combined with capillary electrophoresis technique for detecting pathogenic bacteria and antibiotic resistance genes in bone infections. [PDF]

BMC Infect Dis
Liu J, Yu Y, Feng W, He Z, Wang M, Hou W, Zhao Y, Liu Y, Yan Y, Zhao H.   +9 more
europepmc   +1 more source

Adapting the Laser-Induced Fluorescence Detection Setup of the Standard Capillary Electrophoresis Equipment to Achieve High-Sensitivity Detection of 2-Aminoacridone Labeled Oligosaccharides. [PDF]

J Sep Sci
Dusa F, Rusin M, Smolkova D, Sestak J, Dobrowolska-Iwanek J, Woźniakiewicz M, Lavicka J.   +6 more
europepmc   +1 more source

PCR Product Cleanup Methods for Capillary Electrophoresis

BioTechniques, 2003
Darryl L. Irwin, Keith R. Mitchelson, Ian Findlay   +2 more
doaj   +1 more source

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng Xu   +10 more
doaj