Results 41 to 50 of about 139,916 (258)

Tandem repeat disorders: from diagnosis to emerging therapeutic strategies [PDF]

Encephalitis
Tandem repeat disorders (TRDs) are genetic conditions characterized by the abnormal expansion of repetitive DNA sequences within specific genes. The growing number of identified TRDs highlights their complexity, with varied molecular mechanisms ranging ...
Jangsup Moon
doaj   +1 more source

Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis

Brain Sciences, 2023
GGC repeat expansions in the 5’ untranslated region (5’UTR) of the Notch Homolog 2 N-terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal intranuclear inclusion disease (NIID).
Mengxia Wan, Ji He, Junyan Huo, Can Sun, Yu Fu, Dongsheng Fan   +5 more
doaj   +1 more source

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Molecular Neurodegeneration, 2018
Background Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)
Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer   +16 more
doaj   +1 more source

Replication and Expansion of Trinucleotide Repeats in Yeast [PDF]

Molecular and Cellular Biology, 2003
The mechanisms of trinucleotide repeat expansions, underlying more than a dozen hereditary neurological disorders, are yet to be understood. Here we looked at the replication of (CGG)(n) x (CCG)(n) and (CAG)(n) x (CTG)(n) repeats and their propensity to expand in Saccharomyces cerevisiae.
Richard, Pelletier, Maria M, Krasilnikova, George M, Samadashwily, Robert, Lahue, Sergei M, Mirkin   +4 more
openaire   +2 more sources

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source

Comparative Evaluation of Hemodiafiltration, Hemoperfusion, and Standard Hemodialysis on Efficacy, Inflammatory Control, Dialysis Adequacy, and Safety in End‐Stage Renal Disease: A Prospective Observational Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Chronic micro‐inflammation in patients with end‐stage renal disease (ESRD) is a significant driver of cardiovascular complications and diminished quality of life. While standard hemodialysis (SHD) effectively manages small‐molecule clearance, its ability to remove medium‐to‐large uremic toxins—the primary catalysts of systemic ...
Hongwei Zuo, Weisi Dai, Jie Mao, Mei Ye, Xingshan Lu, Xiaocui Zhang   +5 more
wiley   +1 more source

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

Life, 2021
Several patients with rare genetic disorders remain undiagnosed following comprehensive diagnostic testing using whole-exome sequencing (WES). In these patients, pathogenic genetic variants may reside in intronic or regulatory regions or they may emerge ...
Gaber Bergant, Aleš Maver, Borut Peterlin   +2 more
doaj   +1 more source

Expansion of GAA trinucleotide repeats in mammals

Genomics, 2006
We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes (6 mammalian, 2 nonmammalian vertebrates, 4 arthropods, 4 fungi, and 1 each of nematode, amoebozoa,
Clark, Rhonda M., Bhaskar, Sanjeev S., Miyahara, Masaki, Dalgliesh, Gillian L., Bidichandani, Sanjay I.   +4 more
openaire   +2 more sources

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS ONE, 2018
BACKGROUND:The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the
Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff   +12 more
doaj   +1 more source