Results 121 to 130 of about 7,289,232 (294)

Genotype prediction in the fragile X syndrome.

, 2016
Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis

core   +1 more source

Fetal Cells in Maternal Blood for Noninvasive Prenatal Testing—Is it Still a Distant Star?

Prenatal Diagnosis, EarlyView.
ABSTRACT Accurate and safe prenatal diagnosis of severe genetic disorders remains challenging despite advances in genomic technologies and increased use of cell‐free noninvasive prenatal testing (cfNIPT). Currently, approximately half of pathogenic copy number variants (pCNVs) and most monogenic disorders are identified only postnatally.
Ripudaman Singh, Katarina Ravn, Line Dahl Jeppesen, Maria Bach Laursen, Maibritt Nøgaard Lauridsen, Mathias Kølvraa, Marlene Christina Nielsen, Bolette Hestbek Nicolaisen, Inga Baach Cristensen, Morten Muhlig Nielsen, Britt Kidmose Ardal, Lars Henning Pedersen, Mads Tang Dalsgaard, Ida Vogel, Lotte Hatt   +14 more
wiley   +1 more source

A Systematic Review of the Safety and Tolerability of Theta Burst Stimulation in Children and Adolescents

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Theta burst stimulation (TBS) is often used in clinical practice and research protocols for adults with neuropsychiatric disorders. There are substantial knowledge gaps related to the application of TBS in children and adolescents.
Rana Elmaghraby, Qi Sun, Can Ozger, Julia Shekunov, Magdalena Romanowicz, Paul E. Croarkin   +5 more
wiley   +1 more source

Exploring the Reproductive Toxicity of Bisphenol S Through a Network Toxicology and Molecular Docking Analysis

Pediatric Discovery, EarlyView.
Utilizing network toxicology, molecular docking, and dynamic simulations to investigate the potential reproductive toxicity of bisphenol S (BPS). ABSTRACT The aim of this study was to investigate the potential reproductive toxicity of bisphenol S (BPS) and the related molecular mechanisms through a network toxicology approach.
Siyuan Wang, Yan Fu, Xu Huang, Qitong Guo, Xiangqin Zheng, Shengde Wu, Lianju Shen, Guanghui Wei   +7 more
wiley   +1 more source

Identification of Novel CD52+ Fibroblasts in Nodular Prostatic Hyperplasia

The Prostate, EarlyView.
ABSTRACT Background Benign prostatic hyperplasia (BPH) and lower urinary tract symptoms are strongly associated with chronic prostate inflammation and stromal remodeling, yet the stromal cell programs that emerge during inflammatory, nodular remodeling remain incompletely defined. A Toxoplasma gondii infection model produces persistent inflammation and
Oliver R. Strobel, Hanyu Xia, James P. Ropa, Douglas W. Strand, Travis J. Jerde, Gustavo Arrizabalaga   +5 more
wiley   +1 more source

Herbal Therapeutics in Osteoporosis: Mechanisms, Evidence, and Translational Potential

Phytotherapy Research, EarlyView.
Schematic overview of bone remodeling dysregulation in osteoporosis and the multi‐target protective role of herbal therapeutics. ABSTRACT Osteoporosis is a chronic bone disease marked by reduced density and increased fracture risk. Current treatments face limitations in safety, efficacy, and long‐term adherence, prompting interest in alternative ...
Elnaz Vafadar Moradi, Sina Vossoughinia, Zahra Yazdanpanah, Hossein Sobhani, Jalileh Jalali, Mahboobeh Ghasemzadeh Rahbardar   +5 more
wiley   +1 more source

Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2012
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder.
Onur Ozer, Osman Demirhan, Erdal Tunc, Huseyin Bagci, Dilara Karahan, Nilgun Tanriverdi, Bertan Yilmaz, Ali Irfan Guzel, Ibrahim Keser   +8 more
doaj  

Oxyberberine Ameliorates Type 2 Diabetic Osteoporosis Through Sirtuin 3‐Associated Regulation of Autophagy and Ferroptosis in Bone Marrow Mesenchymal Stem Cells

Phytotherapy Research, EarlyView.
Schematic overview of the in vivo and in vitro experimental designs used to investigate the protective effects of oxyberberine (OBB) against type 2 diabetic osteoporosis, including C‐Z treatment, Sirt3 knockdown, and assessments of osteogenesis, autophagy, oxidative stress, and ferroptosis. ABSTRACT Type 2 diabetic osteoporosis (T2DOP) is characterized
Jianan Huang, Baihao Chen, Hua Zhang, Junzheng Yang, Jiacong Xiao, Chenhui Meng, Yanchao An, Kai Meng, Baohua Wang, Zhantian An, Peng Chen   +10 more
wiley   +1 more source

The fragile X syndrome

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
Flannery, A, Hirst, M, Knight, S, Ritchie, R, Davies, K   +4 more
openaire   +3 more sources

BioTrade, Frontier Technology Readiness, and the Load Capacity Curve: Sustainable Development Dynamics in Sub‐Saharan Africa

Sustainable Development, EarlyView.
ABSTRACT This study investigates the nonlinear dynamics among income, ecological sustainability, and sustainable development in Sub‐Saharan Africa (SSA) within the Load Capacity Curve (LCC) framework, incorporating BioTrade and frontier technology readiness as novel structural determinants.
Ugur Korkut Pata, Selin Karlilar Pata, Qiang Wang, Sinan Erdogan   +3 more
wiley   +1 more source