Results 121 to 130 of about 397,005 (298)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

Artificial Intelligence–Based Online Symptom Assessment Tools for Systemic Lupus Erythematosus Diagnosis: Patient Perspectives

open access: yesArthritis Care &Research, EarlyView.
Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein   +7 more
wiley   +1 more source

Comparative genomics of amino acid tandem repeats [PDF]

open access: yes, 2009
Tandem amino acid repeats, also known as homopolimeric tract or homopeptides, are very common features of eukaryotic genomes and are present in nearly one-fifth of human encoded proteins.
Mularoni, Loris
core   +1 more source

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

open access: yesGenome Medicine
Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp motifs.
Laurel Hiatt   +9 more
doaj   +1 more source

Integrative Genomic and Cytogenetic Analyses Reveal the Landscape of Typical Tandem Repeats in Water Hyacinth

open access: yesHorticulturae
Tandem repeats in eukaryotic genomes exhibit intrinsic instability that drives rapid evolutionary diversification. However, their evolutionary dynamics in allopolyploid species such as the water hyacinth (Pontederia crassipes or Eichhornia crassipes ...
Liqing Feng   +5 more
doaj   +1 more source

TReaDS: Tandem Repeats Discovery Service [PDF]

open access: yes, 2008
Tandem repeats (TRs) are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions).
Renda, Maria Elena   +2 more
core  

Exactly periodic subspace decomposition based approach for identifying tandem repeats

open access: yes, 2006
The identification and analysis of tandem repeats is an ac-tive area of biological and computational research. Tandem repetitive structures in telomeres plays a role in cancer and hyper-variable, trinucleotide tandem repeats are linked to over a dozen ...
Ravi Gupta   +7 more
core   +1 more source

Counterion Dependent Side‐Chain Relaxation Stiffens a Chemically Doped Thienothiophene Copolymer

open access: yesAdvanced Functional Materials, EarlyView.
Oxidation of a thienothiophene copolymer, p(g3TT‐T2), via different doping strategies and dopant molecules resulted in materials with similar oxidation levels and a high electrical conductivity of ≈100 S cm−1. However, mechanical properties varied significantly, with sub‐glass transition temperatures and elastic moduli spanning from –44°C to –3°C and ...
Mariavittoria Craighero   +12 more
wiley   +1 more source

Insulating‐Passivating Interfaces for Narrow‐Bandgap Tin‐Lead Perovskites Enable High‐Photovoltage in Single‐ and Double‐Junction Solar Cells

open access: yesAdvanced Functional Materials, EarlyView.
Combining field‐effect surface passivation of a narrow‐bandgap tin–lead perovskite by diammonium ions with introducing oleyl‐based amphiphiles to create insulating interface layers between the absorber and the adjacent hole and electron transporting layers increases the open‐circuit voltage to 91.5% of the detailed‐balance limit and enhances the power ...
Vishnu Vijayakumar   +18 more
wiley   +1 more source

Protein tandem repeats - the more perfect, the less structured

open access: yes, 2010
International audienceWe analysed the structural properties of protein regions containing arrays of perfect and nearly perfect tandem repeats. Naturally occurring proteins with perfect repeats are practically absent among the proteins with known 3D ...
Kajava, Andrey V.   +10 more
core   +1 more source

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