Results 51 to 60 of about 2,885,338 (147)

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. [PDF]

PLoS ONE, 2013
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered
Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano   +15 more
doaj   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 more
wiley   +1 more source

Multi‐omics–driven precision medicine

iMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li, Zhe Zhao, Yifan Zhang, Yao Ma, Gaofei Hu, Min Zeng, Zhanqun Yang, Zixuan Zhao, Xin Zhou, Wei Hu, Yuxuan Sun, Meng Su, Jun Li, Matthew Whiteman, Wei Fu, Chao Zhong, Lemin Zheng, Long Chen, Hairong Lv, Rongsheng Zhao, Yi Zhun Zhu   +20 more
wiley   +1 more source

Alternative Splice Site Prediction with Deep Learning [PDF]

, 2019
Alternative splicing of mRNA is tightly regulated in different tissues and developmental stages and its disruption is one of the leading mechanisms that cause genetic disease in humans.
Bretschneider, Hannes
core   +2 more sources

Infection mechanisms of Rhizoctonia cerealis in wheat

iMeta, EarlyView.
We discover that R. cerealis (Rc) is a primary pathogen causing sharp eyespot of wheat after 335 distinct isolates were isolated from 1683 SE‐diseased wheat plants across China over 7 years using a single hyphal tip isolation method. We then generated high‐quality reference genomes via de novo sequencing of five representative Rc isolates and ...
Yan Ren, Ti Liu, Heying Zhao, Qirun Qian, Lufei Cui, Zhipeng Sun, Wenkai Yang, Peng Guo, Sisheng Wang, Lingran Zhang, Congwei Sun, Aolin Jia, Ning Zhang, Feng Chen   +13 more
wiley   +1 more source

Genetic variations and alternative splicing. The Glioma associated oncogene 1, GLI1.

Frontiers in Genetics, 2012
Alternative splicing is a post-transcriptional regulatory process that is attaining stronger recognition as a modulator of gene expression. Alternative splicing occurs when the primary RNA transcript is differentially processed into more than one mature ...
Peter eZaphiropoulos
doaj   +1 more source

Molecular Glue Degraders in Early Development for Cancer Therapy

Medicinal Research Reviews, EarlyView.
ABSTRACT Molecular glue degraders are an emerging class of small molecule allosteric modulators that induce or stabilize protein‐protein interactions, enabling targeted degradation of previously intractable proteins. By redirecting E3 ligases to recognize neosubstrates, proteins that are not typically recognized by a specific E3 ubiquitin ligase, they ...
E. Sila Ozdemir, Hyunbum Jang, Ozlem Keskin, Attila Gursoy, Ruth Nussinov   +4 more
wiley   +1 more source

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Journal of Lipid Research, 2001
We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +1 more source

Cryptic Exon Activation by Disruption of Exon Splice Enhancer [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing α (MCCA) and smaller β (MCCB) subunits encoded by MCCA and MCCB ...
Stucki, Martin, Suormala, Terttu, Baumgartner, Matthias R; https://orcid.org/, Fowler, Brian, Valle, David   +4 more
core   +1 more source

Mobilizing Presence across Borders: Devotion to Papua New Guinea's Blessed Peter To Rot in Australia

Oceania, EarlyView.
ABSTRACT This article engages with the conjunctures between migration and religion by focusing on the celebration of Papua New Guinea's ‘National Patron Saint’, the Blessed Peter To Rot, in the Australian diaspora. Both in Sydney and Brisbane, Catholic Papua New Guinea (PNG) migrants have been ‘relocating’ PNG shrines, regalia, relics and ritual ...
Anna‐Karina Hermkens
wiley   +1 more source