Results 121 to 130 of about 103,930 (219)

Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation

New Phytologist, EarlyView.
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, Aaryan Chhabra, Ya‐Long Guo, Sureshkumar Balasubramanian   +3 more
wiley   +1 more source

Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome. [PDF]

J Lipid Res
Laroui A, Rojas D, Bouhour S, Proteau-Lemieux M, Galarneau L, Benachenhou S, Abolghasemi A, Plantefeve R, Mallet PL, Corbin F, Lepage JF, Çaku A.   +11 more
europepmc   +1 more source

Lipedema: Progress, Challenges, and the Road Ahead

Obesity Reviews, EarlyView.
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]

Biomedicines
van der Lei MB, Kooy RF.
europepmc   +1 more source

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6‐Related Disorders: Clinical Experience and Literature Review

Orthopaedic Surgery, EarlyView.
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, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu, Baozhong Zhang, Terry Jianguo Zhang, Yu Wang, Nan Wu   +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]

Open Biol
Caron C, McCullagh EA, Bertolin G.
europepmc   +1 more source

The fragile X syndrome. [PDF]

Journal of Medical Genetics, 1991
openaire   +2 more sources

Genome‐wide DNA methylation profiles in the raphe nuclei of patients with autism spectrum disorder

Psychiatry and Clinical Neurosciences, EarlyView.
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, Kazuhiko Nakabayashi, Keisuke Ishiwata, Kazuhiko Nakamura, Yosuke Kameno, Kenichiro Hata, Hideo Matsuzaki   +6 more
wiley   +1 more source

Prevalence of fragile X syndrome in South Asia, and importance of diagnosis. [PDF]

Med Rev (2021)
Fazna A, Hagerman RJ.
europepmc   +1 more source

Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
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, Jennifer M. Fernandez, Joseph T. McGrath, Erin X. Wei, Mollie Oudenhoven   +4 more
wiley   +1 more source