Results 121 to 130 of about 6,021,091 (244)

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders

Molecular Cytogenetics
Background The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs).
Ekaterina N. Tolmacheva, Anna A. Kashevarova, Elizaveta A. Fonova, Olga A. Salyukova, Gulnara N. Seitova, Lyudmila P. Nazarenko, Anna A. Agafonova, Larisa I. Minaycheva, Ekaterina G. Ravzhaeva, Valeria V. Petrova, Maria E. Lopatkina, Elena O. Belyaeva, Svetlana L. Vovk, Dmitry A. Fedotov, Oksana Y. Vasilyeva, Nikolay A. Skryabin, Igor N. Lebedev   +16 more
doaj   +1 more source

Patterns of DNA methylation on the human X chromosome and use in analyzing X-chromosome inactivation

, 2012
The process of X-chromosome inactivation achieves dosage compensation between mammalian males and females. In females one X chromosome is transcriptionally silenced through a variety of epigenetic modifications including DNA methylation.
Cotton, Allison Marie
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Skewed X-Chromosome Inactivation in Women Affected by Alzheimers Disease

, 2015
X-chromosome instability has been a long established feature in Alzheimers disease ( AD). Premature centromere division and aneuploidy of the X-chromosome has been found in peripheral blood lymphocytes and neuronal tissue in female AD patients ...
Živković, Lada, Stefanova, Elka, Čabarkapa, Andrea, Božović, Ana M., Davidović, Radoslav, Mandušić, Vesna, Spremo-Potparević, Biljana, Bajić, Vladan P., Bozović, Ana, Bajić, Vladan, Davidović, Radoslav S., Potparević, Biljana, Pirković, Andrea   +12 more
core   +1 more source

Integrating Recycling and Emission Reduction: A Business Strategy Analysis With Multi‐Objective Mixed‐Integer Linear Programming Framework for Optimising Sustainable Closed‐Loop Supply Chain Network Design

Business Strategy and the Environment, EarlyView.
ABSTRACT This research develops an integrated mixed‐integer linear programming (MILP) model for closed‐loop supply chain network design that optimises competing economic and environmental objectives including profit maximisation, supplier quality improvement and CO2 emission reduction.
Reza Eslamipoor
wiley   +1 more source

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han, Yuke Wang, Yixiong Dang, Rong Xiang, Yan Zeng, Sheng He, Ye Ju, Zilan Chen, Ting Liu, Zihao Li, Yuqi Pang, Wanyi Tan, Jue Xu, Jingwen Jiang, Xia Jiang   +14 more
wiley   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Genomic Insights Into Spatiotemporal Dynamics of Acquired Azithromycin Resistance Genes in Salmonella Strains Worldwide

Food Safety and Health, EarlyView.
ABSTRACT Azithromycin has been used for clinical invasive infections caused by fluoroquinolone‐ and third‐generation cephalosporin‐resistant Salmonella, and mass drug administration with azithromycin has been used to reduce under‐5 mortality in children in some countries.
Yuhang Pei, Mengqi Qu, Ziru Yang, Xuebin Xu, Yanan Wang   +4 more
wiley   +1 more source

X‐Linked Intellectual Developmental Disorder‐93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review

Molecular Genetics & Genomic Medicine
Objective To report the clinical manifestations and genetic diagnosis of a female patient with X‐linked intellectual developmental disorder‐93 (XLID93, OMIM#300659) caused by a BRWD3 gene mutation.
Yang Xiu, Yige Zhang, Yake Jiao, Wei Wang, Yanyan Hu   +4 more
doaj   +1 more source