Results 141 to 150 of about 345,197 (240)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

Studies on the Evolution and Function of Introns in 5' Untranslated Regions

, 2011
The function and evolution of introns have been topics of great interest since introns were discovered in the 1970s. Introns that interrupt protein-coding regions have the most obvious potential to affect coding sequences; therefore, their evolution have
Cenik, Can
core  

Migration of Small Ribosomal Subunits on the 5' Untranslated Regions of Capped Messenger RNA. [PDF]

Int J Mol Sci, 2019
Shirokikh NE, Dutikova YS, Staroverova MA, Hannan RD, Preiss T.   +4 more
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

5'untranslated regions provide a versatile toolkit for tunable exogenous protein expression. [PDF]

Mol Biol Cell
Garcia C, Poch D, Alemayhu AM, Paulsen CE.   +3 more
europepmc   +1 more source

Translational control by 5'-untranslated regions of eukaryotic mRNAs. [PDF]

Science, 2016
Hinnebusch AG, Ivanov IP, Ivanov IP, Sonenberg N.   +3 more
europepmc   +1 more source

MicroRNA‐130a‐3p Targets the Androgen‐Related Transcription Factor MAFB: Effects on Proliferation, Migration, Apoptosis, and Cell Cycle in Hypospadias

Pediatric Discovery, EarlyView.
MicroRNA‐130a‐3p targets and inhibits MAFB expression, leading to the development of hypospadimas. MicroRNA‐130a‐3p inhibits the expression of MAFB, disrupts the normal processes of cell proliferation, migration, cell apoptosis, and cycle progression, and ultimately leads to the development of hypospadias.
Jiaxin Zhou, Yixuan Wang, Zhicheng Zhang, Qiang Zhang, Zhenmin Liu, Hongsong Chen, Xingguo Luo, Chunlan Long, Lianju Shen, Xing Liu, Guanghui Wei   +10 more
wiley   +1 more source

Deep learning of the regulatory grammar of yeast 5' untranslated regions from 500,000 random sequences. [PDF]

Genome Res, 2017
Cuperus JT, Groves B, Kuchina A, Rosenberg AB, Jojic N, Fields S, Seelig G.   +6 more
europepmc   +1 more source