Results 41 to 50 of about 152,781 (323)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia   +30 more
wiley   +1 more source

Prognostic significance of MGMT promoter methylation in diffuse glioma patients

open access: yesBiotechnology & Biotechnological Equipment, 2019
Current treatment options for diffuse glioma patients include maximum safe resection followed by a combination of radiation therapy and chemotherapy with alkylating agents.
Nikola Jovanović   +10 more
doaj   +1 more source

Multiple chaotic central pattern generators with learning for legged locomotion and malfunction compensation [PDF]

open access: yes, 2014
An originally chaotic system can be controlled into various periodic dynamics. When it is implemented into a legged robot's locomotion control as a central pattern generator (CPG), sophisticated gait patterns arise so that the robot can perform various walking behaviors.
arxiv   +1 more source

Learning Quadruped Locomotion using Bio-Inspired Neural Networks with Intrinsic Rhythmicity [PDF]

open access: yesarXiv, 2023
Biological studies reveal that neural circuits located at the spinal cord called central pattern generator (CPG) oscillates and generates rhythmic signals, which are the underlying mechanism responsible for rhythmic locomotion behaviors of animals.
arxiv  

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker   +17 more
wiley   +1 more source

Synergy effects of Polyinosinic-polycytidylic acid, CpG oligodeoxynucleotide, and cationic peptides to adjuvant HPV E7 epitope vaccine through preventive and therapeutic immunization in a TC-1 grafted mouse model

open access: yesHuman Vaccines & Immunotherapeutics, 2018
Cross-talk by pattern recognition receptors may facilitate the maturation of dendritic cells and fine tune the immune response. Thus, the inclusion of ligands agonistic to multiple receptors in a vaccine formula may be an effective strategy to elicit ...
Cunbao Liu   +6 more
doaj   +1 more source

Human non-CpG methylation patterns display both tissue-specific and inter-individual differences suggestive of underlying function

open access: yesEpigenetics, 2022
DNA methylation (DNAm) in mammals is mostly examined within the context of CpG dinucleotides. Non-CpG DNAm is also widespread across the human genome, but the functional relevance, tissue-specific disposition, and inter-individual variability has not ...
Philip Titcombe   +10 more
doaj   +1 more source

CpG islands – ‘A rough guide’ [PDF]

open access: yesFEBS Letters, 2009
Mammalian genomes are punctuated by DNA sequences containing an atypically high frequency of CpG sites termed CpG islands (CGIs). CGIs generally lack DNA methylation and associate with the majority of annotated gene promoters. Many studies, however, have identified examples of CGI methylation in malignant cells, leading to improper gene silencing.
Robert S. Illingworth, Adrian Bird
openaire   +3 more sources

Antigen-adjuvant interactions, stability, and immunogenicity profiles of a SARS-CoV-2 receptor-binding domain (RBD) antigen formulated with aluminum salt and CpG adjuvants

open access: yesHuman Vaccines & Immunotherapeutics, 2022
Low-cost, refrigerator-stable COVID-19 vaccines will facilitate global access and improve vaccine coverage in low- and middle-income countries. To this end, subunit-based approaches targeting the receptor-binding domain (RBD) of SARS-CoV-2 Spike protein ...
Sakshi Bajoria   +15 more
doaj   +1 more source

Unlocking the potential of tumor‐derived DNA in urine for cancer detection: methodological challenges and opportunities

open access: yesMolecular Oncology, EarlyView.
Urine is a rich source of biomarkers for cancer detection. Tumor‐derived material is released into the bloodstream and transported to the urine. Urine can easily be collected from individuals, allowing non‐invasive cancer detection. This review discusses the rationale behind urine‐based cancer detection and its potential for cancer diagnostics ...
Birgit M. M. Wever   +1 more
wiley   +1 more source

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