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Cassandra Roeske et al.
Journal of molecular endocrinology, 54(3), 277-288 (2015-04-29)
Expression of the G protein subunit Goα has been shown to be prominent in the atria of the rat heart and to be significantly associated with atrial natriuretic factor (ANF)-containing atrial-specific secretory granules by immunocytochemistry. In addition, differential expression profile...
Monica M Franca et al.
The Journal of clinical endocrinology and metabolism, 104(7), 2827-2841 (2019-03-05)
Primary ovarian insufficiency (POI) is a cause of female infertility. However, the genetic etiology of this disorder remains unknown in most patients with POI. To investigate the genetic etiology of idiopathic POI. We performed whole-exome sequencing of 11 families with...
Zhiwei Wang et al.
PloS one, 6(6), e20537-e20537 (2011-06-16)
Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death in the United States, suggesting that novel strategies for the prevention and treatment of PDAC are urgently needed. K-ras mutations are observed in >90% of pancreatic cancer, suggesting...
Beatriz C Borges et al.
Molecular metabolism, 5(6), 379-391 (2016-06-04)
Hypophagia and increased energy expenditure under inflammatory conditions, such as that observed after bacterial lipopolysaccharide (LPS) administration, are associated with leptin secretion. The hypophagic effect of leptin depends in part on the activation of PI3K signaling pathway. However, the role...
Cyrille Deboux et al.
PloS one, 8(2), e57430-e57430 (2013-03-08)
Neural precursor (NPC) based therapies are used to restore neurons or oligodendrocytes and/or provide neuroprotection in a large variety of neurological diseases. In multiple sclerosis models, intravenously (i.v) -delivered NPCs reduced clinical signs via immunomodulation. We demonstrated recently that NPCs...
Richard S Kao et al.
Bone, 55(2), 277-287 (2013-04-16)
Osteocytes have been implicated in the control of bone formation. However, the signal transduction pathways that regulate the biological function of osteocytes are poorly defined. Limited evidence suggests an important role for the Gs/cAMP pathway in osteocyte function. In the...
Marc A Mergy et al.
Neurochemistry international, 73, 56-70 (2013-12-18)
Alterations in dopamine (DA) signaling underlie the most widely held theories of molecular and circuit level perturbations that lead to risk for attention-deficit hyperactivity disorder (ADHD). The DA transporter (DAT), a presynaptic reuptake protein whose activity provides critical support for...
Moon K Han et al.
Scientific reports, 8(1), 16220-16220 (2018-11-06)
CD98 has been implicated in the experimental model of inflammatory bowel disease. We have previously shown that IEC-specific overexpression of CD98 mediates intestinal inflammation and intestinal epithelial barrier dysfunction. Mice overexpressing CD98 exhibited severe colitis and a greater susceptibility to...
Elena Hernandez-Encinas et al.
Journal of neuroinflammation, 12, 14-14 (2015-01-27)
The CCAAT/enhancer-binding protein β (C/EBPβ) is a transcription factor, which was first identified as a regulator of differentiation and inflammatory processes mainly in adipose tissue and liver; however, its function in the brain was largely unknown for many years. Previous...
Lindsay K Klofas et al.
Human molecular genetics, 29(8), 1365-1377 (2020-04-14)
Mutations in DEP domain containing 5 (DEPDC5) are increasingly appreciated as one of the most common causes of inherited focal epilepsy. Epilepsies due to DEPDC5 mutations are often associated with brain malformations, tend to be drug-resistant, and have been linked...
Marcio A Torsoni et al.
Endocrinology, 157(12), 4803-4816 (2016-10-13)
A temporary and reversible inhibition of the hypothalamo-pituitary-gonadal axis is adaptive when energy reserves are diminished, allowing individual survival and energy accumulation for eventual reproduction. The AMP-activated protein kinase (AMPK) works as a cellular sensor of the AMP to ATP...
Kim M Chau et al.
Biology of reproduction, 84(1), 140-152 (2010-09-03)
The cystatin CRES (cystatin-related epididymal spermatogenic; Cst8) is the defining member of a reproductive subgroup of family 2 cystatins of cysteine protease inhibitors and is present in the epididymis and spermatozoa, suggesting roles in sperm maturation and fertilization. To elucidate...
Hira Raheel et al.
American journal of physiology. Lung cellular and molecular physiology, 316(5), L740-L750 (2019-02-01)
In healthy blood vessels, albumin crosses the endothelium to leave the circulation by transcytosis. However, little is known about the regulation of albumin transcytosis or how it differs in different tissues; its physiological purpose is also unclear. Using total internal...
Satvinder Kaur et al.
Nature communications, 11(1), 2769-2769 (2020-06-04)
During obstructive sleep apnea, elevation of CO2 during apneas contributes to awakening and restoring airway patency. We previously found that glutamatergic neurons in the external lateral parabrachial nucleus (PBel) containing calcitonin gene related peptide (PBelCGRP neurons) are critical for causing...
Alexandro Gianforcaro et al.
PloS one, 8(2), e30243-e30243 (2013-02-14)
We previously demonstrated that dietary vitamin D(3) at 10x the adequate intake (AI) attenuates the decline in functional capacity in the G93A mouse model of ALS. We hypothesized that higher doses would elicit more robust changes in functional and disease...
Zaid Mohsen et al.
Brain structure & function, 222(9), 4111-4129 (2017-06-16)
Prokineticin receptor 2 (PROKR2) is predominantly expressed in the mammalian central nervous system. Loss-of-function mutations of PROKR2 in humans are associated with Kallmann syndrome due to the disruption of gonadotropin releasing hormone neuronal migration and deficient olfactory bulb morphogenesis. PROKR2...
Elnaz Moghimi et al.
PloS one, 10(5), e0126355-e0126355 (2015-05-29)
Dietary vitamin D3 (D3) restriction reduces paw grip endurance and motor performance in G93A mice, and increases inflammation and apoptosis in the quadríceps of females. ALS, a neuromuscular disease, causes progressive degeneration of motor neurons in the brain and spinal...
Pierre-Andre Barbeau et al.
The Journal of physiology, 598(4), 683-697 (2019-12-18)
Although the role of TBC1D1 within the heart remains unknown, expression of TBC1D1 increases in the left ventricle following an acute infarction, suggesting a biological importance within this tissue. We investigated the mechanistic role of TBC1D1 within the heart, aiming...
Teresa Borrás et al.
Investigative ophthalmology & visual science, 56(4), 2203-2214 (2015-02-26)
Soft tissue calcification is a pathological condition. Matrix Gla (MGP) is a potent mineralization inhibitor secreted by cartilage chondrocytes and arteries' vascular smooth muscle cells. Mgp knock-out mice die at 6 weeks due to massive arterial calcification. Arterial calcification results...
Yulia Dzhashiashvili et al.
Neurobiology of disease, 127, 527-544 (2019-03-30)
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease, characterized by motor neuron death in the brain and spinal cord. Mutations in the Cu/Zn superoxide dismutase (SOD1) gene account for ~20% of all familial ALS forms, corresponding to 1%-2% of...
Zhangting Yao et al.
Cancer research, 80(5), 1171-1182 (2020-01-15)
Chemotherapy is important for cancer treatment, however, toxicities limit its use. While great strides have been made to ameliorate the acute toxicities induced by chemotherapy, long-term comorbidities including bone loss remain a significant problem. Chemotherapy-driven estrogen loss is postulated to...
Timothy B Brown et al.
Human molecular genetics, 17(20), 3095-3104 (2008-07-18)
Huntington's disease (HD) is an autosomal-dominant neurodegenerative disease caused by an expanded polyglutamine tract in the ubiquitously expressed huntingtin protein. Clinically, HD is characterized by motor, cognitive and psychiatric deficits. Striking degeneration of the striatum is observed in HD with...
Modesto Rojas et al.
PloS one, 8(12), e84357-e84357 (2013-12-21)
Diabetic retinopathy, a major cause of blindness, is characterized by increased expression of vascular endothelial growth factor (VEGF), leukocyte attachment to the vessel walls and increased vascular permeability. Previous work has shown that reactive oxygen species (ROS) produced by the...
Michael Fagerlund et al.
Cell transplantation, 21(4), 739-747 (2011-12-21)
Transplantation of neural stem cells and the mobilization of endogenous neuronal precursors in the adult brain have been proposed as therapeutic strategies for central nervous system disorders and injuries. The aim of the present study was to investigate the possible...
Laurent L'homme et al.
Scientific reports, 10(1), 21095-21095 (2020-12-05)
Retinoic acid receptor-related orphan receptor-alpha (RORα) is a transcription factor from the nuclear receptor family expressed by immune cells and involved in the development of obesity, insulin resistance (IR) and non-alcoholic steatohepatitis (NASH). It was recently reported that mice deficient...
Alexandra L Cara et al.
Endocrinology, 161(8) (2020-07-02)
Disorders of androgen imbalance, such as hyperandrogenism in females or hypoandrogenism in males, increase risk of visceral adiposity, type 2 diabetes, and infertility. Androgens act upon androgen receptors (AR) which are expressed in many tissues. In the brain, AR are...
S Jesse Lopez et al.
Human molecular genetics, 28(22), 3842-3852 (2019-10-19)
Ubiquitin E3 ligase 3A (UBE3A) encodes an E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder Angelman syndrome (AS). Previous studies of UBE3A function have not examined full Ube3a deletion in mouse, the complexity of imprinted...
Daniel L Galvan et al.
The Journal of clinical investigation, 129(7), 2807-2823 (2019-05-08)
Phosphorylation of Dynamin-related protein1 (Drp1) represents an important regulatory mechanism for mitochondrial fission. Here we established the role of Drp1 Serine 600 (S600) phosphorylation on mitochondrial fission in vivo, and assessed the functional consequences of targeted elimination of the Drp1S600...
Luisa Ojeda-Fernández et al.
PLoS genetics, 12(3), e1005935-e1005935 (2016-03-25)
Endoglin is an auxiliary receptor for members of the TGF-β superfamily and plays an important role in the homeostasis of the vessel wall. Mutations in endoglin gene (ENG) or in the closely related TGF-β receptor type I ACVRL1/ALK1 are responsible...
Michael G Frantz et al.
Current biology : CB, 30(15), 2962-2973 (2020-06-27)
Disrupting binocular vision during a developmental critical period can yield enduring changes to ocular dominance (OD) in primary visual cortex (V1). Here we investigated how this experience-dependent plasticity is coordinated within the laminar circuitry of V1 by deleting separately in...
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