Results 121 to 130 of about 103,930 (219)
Summary Repetitive DNA is a feature of all organisms, ranging from archaea and plants to humans. DNA repeats can be seen both in coding and in noncoding regions of the genome. Due to the recurring nature of the sequences, simple DNA repeats tend to be more prone to errors during replication and repair, resulting in variability in their unit length ...
Sridevi Sureshkumar+3 more
wiley +1 more source
Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome. [PDF]
Laroui A+11 more
europepmc +1 more source
Lipedema: Progress, Challenges, and the Road Ahead
ABSTRACT Introduction Lipedema is a chronic and progressive disease that predominantly affects women, characterized by a disproportionate increase in subcutaneous adipose tissue (AT), particularly in the lower limbs. It is associated with significant physical disability, chronic pain, thromboembolism, and psychosocial distress.
Vincenza Cifarelli
wiley +1 more source
From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research. [PDF]
van der Lei MB, Kooy RF.
europepmc +1 more source
Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6‐related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo‐pelvic traction may also be safe and effective.
Aoran Maheshati+13 more
wiley +1 more source
Sex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome. [PDF]
Caron C, McCullagh EA, Bertolin G.
europepmc +1 more source
Genome‐wide DNA methylation profiles in the raphe nuclei of patients with autism spectrum disorder
Aim Autism spectrum disorder (ASD) has a strong genetic basis, yet its genetic complexities remain elusive. Current research highlights environmental factors and epigenetic processes, such as DNA methylation, as crucial in ASD development. This exploratory study addresses a gap in understanding epigenetic regulation in the dorsal raphe (DR)—a region ...
Keiko Iwata+6 more
wiley +1 more source
Prevalence of fragile X syndrome in South Asia, and importance of diagnosis. [PDF]
Fazna A, Hagerman RJ.
europepmc +1 more source
Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa
ABSTRACT Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by extreme skin fragility, leading to recurrent blistering and significant impacts on patients' quality of life. A bibliometric analysis of the 50 most‐cited EB articles from the past six decades reveals that the majority of research focuses on understanding EB ...
Evelyn F. Fagan+4 more
wiley +1 more source