Results 271 to 280 of about 472,934 (298)
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Nature Genetics, 2006
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis.
Sayer, John A. +41 more
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The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis.
Sayer, John A. +41 more
openaire +4 more sources
The FASEB Journal
ABSTRACT Osteoclast functioning determines homeostasis of bone texture, healing speed after bone injury, and integrity after bone remodeling. Osteoclastogenesis is tightly controlled by transcriptional factors and cytokine‐mediated signaling.
Shasha Tu +8 more
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ABSTRACT Osteoclast functioning determines homeostasis of bone texture, healing speed after bone injury, and integrity after bone remodeling. Osteoclastogenesis is tightly controlled by transcriptional factors and cytokine‐mediated signaling.
Shasha Tu +8 more
openaire +2 more sources
Transcription Factor GATA-6 Recruits PPARα to Cooperatively Activate Glut4 Gene Expression
Journal of Molecular Biology, 2012Peroxisome proliferator-activated receptor α (PPARα) is a nuclear hormone receptor that regulates energy metabolism, but its precise mechanisms remain unknown. Here, we demonstrate that the PPARα agonist fenofibrate activated expression of the glucose transporter Glut4.
Chun-Xia, Yao +9 more
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DNA and Cell Biology, 1998
Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type 1a (GSD-1a), also know as von Gierke disease. Expression of the G6Pase gene is regulated by multiple hormones, including glucocorticoids.
B, Lin, D W, Morris, J Y, Chou
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Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type 1a (GSD-1a), also know as von Gierke disease. Expression of the G6Pase gene is regulated by multiple hormones, including glucocorticoids.
B, Lin, D W, Morris, J Y, Chou
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Journal of Neurochemistry
Abstract The impact of primary and secondary injuries of spinal cord injury (SCI) results in the demise of numerous neurons, and there is still no efficacious pharmacological intervention for it. Recently, studies have shown that endoplasmic reticulum stress (ERS) plays a pivotal role in recovery of neurological ...
Yong Chang +5 more
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Abstract The impact of primary and secondary injuries of spinal cord injury (SCI) results in the demise of numerous neurons, and there is still no efficacious pharmacological intervention for it. Recently, studies have shown that endoplasmic reticulum stress (ERS) plays a pivotal role in recovery of neurological ...
Yong Chang +5 more
openaire +2 more sources
Aberrant expression of Activating Transcription Factor 6 (ATF6) in major psychiatric disorders
Psychiatry Research, 2012Somayeh, Kazeminasab +5 more
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