Results 101 to 110 of about 317,190 (282)

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4

International Journal of General Medicine, 2023
Chunyun Fu,1,* Jingsi Luo,2,* Jiasun Su,2 Shujie Zhang,2 Qi Yang,2 Yue Zhang2 1Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, People’s Republic of China ...
Fu C, Luo J, Su J, Zhang S, Yang Q, Zhang Y   +5 more
doaj  

Microarray analysis in the Archaeon Halobacterium salinarum strain R1 [PDF]

, 2007
Background: Phototrophy of the extremely halophilic archaeon Halobacterium salinarum was explored for decades. The research was mainly focused on the expression of bacteriorhodopsin and its functional properties.
Wende Andy, Welzl, G., Wende, Andy, Oesterhelt, Dieter, Wende, A., Markus Panhuysen, Panhuysen, Markus, Dieter Oesterhelt, Pfeiffer Friedhelm, Soppa, Jörg (Prof. Dr.), Jens Twellmeyer, Pfeiffer, F., Soppa Jörg, Pfeiffer, Friedhelm, Twellmeyer, Jens, Wolfertz, J., Zaigler, Alexander, Oesterhelt Dieter, Jörg Soppa, Wolfertz Jan, Zaigler Alexander, Welzl Gerhard, Andy Wende, Soppa, J., Zaigler, A., Alexander Zaigler, Wolfertz, Jan, Oesterhelt, D., Welzl, Gerhard, Friedhelm Pfeiffer, Panhuysen, M., Twellmeyer Jens, Gerhard Welzl, Jan Wolfertz, Panhuysen Markus, Twellmeyer, J.   +35 more
core   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

BMC Medical Genomics, 2017
Background Obsessive-Compulsive Disorder (OCD) is a common and chronic disorder in which a person has uncontrollable, reoccurring thoughts and behaviours.
Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne Walitza   +8 more
doaj   +1 more source

MDL‐800‐induced SIRT6 activation decreases age‐associated osteoarthritis in mice

Arthritis &Rheumatology, Accepted Article.
Objective SIRT6 is a nuclear‐localized histone deacetylase that regulates multiple pathways associated with aging. This study aimed to determine whether systemic administration of a small molecule activator of SIRT6, MDL‐800, decreases the severity of age‐associated osteoarthritis (OA) in mice.
Matheus Moreira Perez, Pranay Ramteke, Bahiyah Watson, Owen Haslam, Eirene Choi, Susan Chubinskaya, Mandy J. Peffers, William R. Davis, Jacqueline Shine, Brian O. Diekman, Richard F. Loeser, Theresa A. Freeman, Makarand V. Risbud, John A. Collins   +13 more
wiley   +1 more source

Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications

Taiwanese Journal of Obstetrics & Gynecology
Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation. Case report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.1 ...
Xiaolin Wang, Yujiao Wang, Xinqiang Lan
doaj   +1 more source

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

Molecular Cytogenetics, 2019
Background Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region.
Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao, Aihua Yin   +14 more
doaj   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Frontiers in Genetics
BackgroundBalanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material; and carriers usually display normal phenotypes and intelligence.
Jing Zhao, Ping Chen, Yijia Ren, Shurong Li, Weiyi Zhang, Yan Li, Fengyu Wang   +6 more
doaj   +1 more source