Results 171 to 180 of about 106,656 (293)

DNA copy number variations in drug reaction with eosinophilia and systemic symptoms (DRESS) identifying 2 new candidates genes [PDF]

Clin Transl Allergy, 2014
Bursztejn A, Nemos C, Redon R, Trechot P, Gastin I, Barbaud A.   +5 more
europepmc   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang, Haiting Li, Xiaoping Du, Qiong Wang, Yating Zhang, Huifang Wang   +5 more
wiley   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

Advanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez, Nicolás Alcaraz, Karla Torres‐Arciga, José Antonio Ocampo‐Cervantes, Alejandra Cervera, Clementina Castro‐Hernández, Cynthia Gabriela Sámano‐Salazar, Ernesto Soto‐Reyes, Rodrigo González‐Barrios   +8 more
wiley   +1 more source

Activation of SIRT1 Reduces Renal Tubular Epithelial Cells Fibrosis in Hypoxia Through SIRT1‐FoxO1‐FoxO3‐Autophagy Pathway

Advanced Biology, EarlyView.
Hypoxia promotes the epithelial‐mesenchymal transition (EMT) of renal tubular epithelial cells via the SIRT1‐FoxO1‐FoxO3‐autophagy pathway, thereby resulting in the fibrosis of renal tubular epithelial cells. Activation of SIRT1 or induction of autophagy inhibits this process, alleviating hypoxia‐induced fibrosis.
Guangyu Wang, Lijuan Zhang, Jiaorong Tan, Fei Li, Yishan Jin, Limei He, Xin Yang   +6 more
wiley   +1 more source

Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays [PDF]

, 2007
Herbert Auer, David L. Newsom, Norma J. Nowak, Kirk M. McHugh, Sunita Singh, C. Yung Yu, Yan Yang, Gail D. Wenger, Julie M. Gastier‐Foster, Karl Kornacker   +9 more
openalex   +1 more source

HMGB1 Derived from the Pyroptotic Microenvironment Promotes Macrophage Extracellular Traps in Hirschsprung‐Associated Enterocolitis

Advanced Biology, EarlyView.
HMGB1 derived from the pyroptotic environment in Hirschsprung‐associated enterocolitis mediates the formation of macrophage extracellular traps through TLR4 ‐p38 MAPK/p65 NF‐kB signaling pathways. Macrophage extracellular traps induce increased ROS production and pyroptosis of colonic epithelial cells.
Rui Zhang, Jing Li, Lili Song, Liya Pan, Chengchen Zhang, Zhiyan Zhan, Li Hong   +6 more
wiley   +1 more source

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles [PDF]

, 2008
Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers, Robin Andersson, Stephen W. Erickson, Teresita Díaz de Ståhl, Uwe Menzel, Johanna Sandgren, Désirée von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E. Christopher Partridge, Hemant K. Tiwari, David B. Allison, Jan Komorowski, Gert‐Jan B. van Ommen, Dorret I. Boomsma, Nancy L. Pedersen, Johan T. den Dunnen, Karin Wirdefeldt, Jan P. Dumanski   +21 more
openalex   +1 more source

Novel Biologically Active Glass Fiber Functionalized Using Magnesium Phosphate Cement Promotes Bone and Vascular Regeneration

Advanced Biology, EarlyView.
In this study, a new type of bioactive glass fiber ‐based composite magnesium phosphate bone cement is prepared and verified that its mechanical strength and biological properties. In addition, the cement may have played a biologically active role in the Notch and HIF signaling pathways.
Yuzheng Lu, Yanbo Shan, Yingjie Xiong, Jianting Ye, Yanbin Wu, Jipeng Song, Yao Zhang, Wancheng Lin, Haoye Meng, Wenjing Xu, Jiang Peng, Qiang Lu, Lixiang Ding   +12 more
wiley   +1 more source