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41.
Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 下载免费PDF全文
Anas M. Alazami Amr Al-Saif Abdulaziz Al-Semari Saeed Bohlega Soumaya Zlitni Fatema Alzahrani Prashant Bavi Namik Kaya Dilek Colak Hanif Khalak Andy Baltus Borut Peterlin Sumita Danda Kailash P. Bhatia Susanne A. Schneider Nadia Sakati Christopher A. Walsh Futwan Al-Mohanna Brian Meyer Fowzan S. Alkuraya 《American journal of human genetics》2008,83(6):684-691
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle. 相似文献
42.
Koyu A Gokcimen A Ozguner F Bayram DS Kocak A 《Molecular and cellular biochemistry》2006,284(1-2):81-85
Abstact Cadmium is one of the most toxic pollutants in environment. Cadmium accumulation in blood affects the renal cortex and causes
renal failure. In this study, we aimed to evaluate the effects of cadmium on rat liver tissue. Eighteen male albino rats aged
ten weeks old were used in the study. 15 ppm of cadmium was administered to rats via consumption water daily. At the end of
the 30th study day, the animals were killed under ether anesthesia. After the liver tissue samples were taken, histopathological
and biochemical examinations were performed. Histopathologic changes have included vacuolar and granular degenerations in
hepatocytes, heterochromatic nucleuses and sinusoidal and portal widenings. Central vein diameters were normal in cadmium
exposed group. Whereas, there was statistically significant difference between two groups by means of sinusoidal (p< 0.001) and portal triad diameters (p< 0.01). Malondialdehyde (MDA) is an indicator of lipid peroxidation. In this study, MDA was used as a marker of oxidative
stress-induced liver impairment in cadmium exposed rats. Superoxide dismutase (SOD) and catalase (CAT) activities were also
measured to evaluate the changes in antioxidative system in liver tissues. Current findings showed that MDA levels were increased
and SOD and CAT activities were decreased in cadmium exposed group compared to control group. The difference between two groups
was statistically significant (pvalues: MDA,p< 0.01; CAT,p< 0.01 and SOD,p< 0.05). In conclusion, these findings suggest the role of oxidative mechanisms in cadmium-induced liver tissue damage 相似文献
43.
Guler GD Liu H Vaithiyalingam S Arnett DR Kremmer E Chazin WJ Fanning E 《The Journal of biological chemistry》2012,287(9):6469-6481
Maintenance of genomic stability in proliferating cells depends on a network of proteins that coordinate chromosomal replication with DNA damage responses. Human DNA helicase B (HELB or HDHB) has been implicated in chromosomal replication, but its role in this coordinated network remains undefined. Here we report that cellular exposure to UV irradiation, camptothecin, or hydroxyurea induces accumulation of HDHB on chromatin in a dose- and time-dependent manner, preferentially in S phase cells. Replication stress-induced recruitment of HDHB to chromatin is independent of checkpoint signaling but correlates with the level of replication protein A (RPA) recruited to chromatin. We show using purified proteins that HDHB physically interacts with the N-terminal domain of the RPA 70-kDa subunit (RPA70N). NMR spectroscopy and site-directed mutagenesis reveal that HDHB docks on the same RPA70N surface that recruits S phase checkpoint signaling proteins to chromatin. Consistent with this pattern of recruitment, cells depleted of HDHB display reduced recovery from replication stress. 相似文献
44.
Nicola G. Ghazi Emad B. Abboud Sawsan R. Nowilaty Hisham Alkuraya Abdulrahman Alhommadi Huimin Cai Rui Hou Wen-Tao Deng Sanford L. Boye Abdulrahman Almaghamsi Fahad Al Saikhan Hassan Al-Dhibi David Birch Christopher Chung Dilek Colak Matthew M. LaVail Douglas Vollrath Kirsten Erger Wenqiu Wang Thomas Conlon Kang Zhang William Hauswirth Fowzan S. Alkuraya 《Human genetics》2016,135(3):327-343
45.
This plant tissue study of micropropagation identifies the selective medium saving for rapid propagation in cultivated Thermopsis turcica, an endangered germplasm of the family Fabaceae. The aim is to obtain the optimum growth medium of T. turcica by enabling the in vitro propagation of this endemic. In this study, the leaves and stems of T. turcica were cultured on a Murashige and Skoog’s medium supplemented with various concentrations (0.5, 1.0 and 2.0 mg L?1 1-Naphthaleneacetic acid) of auxin and (0.2 and 0.5 mg L?1 Zeatin) (1.0 and 2.0 mg L?1 Benzylaminopurine) of cytokinins. Previous research focused on the regeneration from the seed of T. turcica Eber population; we concentrated upon the regeneration of different plant parts (leaf and stem) of T. turcica Aksehir population. In addition, according to the literature on T. turcica that to date the effects of Zeatin on the regeneration has not been performed. The most promising regeneration and growth were obtained from leaf explants cultured on the media with 2.0 mg L?1 1-Naphthaleneacetic acid and 0.5 mg L?1Zeatin (93.3%). The regenerated plantles were rooted on the media containing 2.0 mg L?1 Indole-3-butyric acid. Rooted plantlets were transplanted into potting of sterilized soil. The present study reports on the sufficient in vitro regeneration protocol through organogenesis in T. turcica. The findings presented here have implications for in vitro protection and use of this endemic endangered species in further biotechnological research. 相似文献
46.
Oxidative stress is associated with various pathophysiological processes, including cell survival, adhesion, apoptosis, and cancer. In the present study, we aimed to evaluate the effects of H2O2‐induced toxicity on adipose tissue–derived stem cells (ADSCs) and whether 17β‐estradiol (E2) has protective effects on these cells. ADSCs derived from adult Sprague–Dawley rats were pretreated with different doses of E2 for 24 h and then exposed to 200 µM H2O2 for 4 h. Incubation of ADSCs with H2O2‐decreased cell viability in a concentration‐dependent fashion (p < 0.0001), whereas pretreatment of these cells with E2 significantly reversed toxicity (p < 0.05), inhibited apoptotic changes, and decreased lipid peroxidation (p < 0.0005). Our findings suggest that E2 protects ADSCs from oxidative‐induced cell death, and therefore, it may be used to improve the survival rate and regenerative capacity of stem cells. © 2012 Wiley Periodicals, Inc. J Biochem Mol Toxicol 26:301–307, 2012; View this article online at wileyonlinelibrary.com . DOI 10.1002/jbt.21421 相似文献
47.
Mümin A. Erdoan Emin Takran Gürkan Yiittürk Oytun Erba Dilek Takran 《Journal of biochemical and molecular toxicology》2020,34(1)
The aim of this study was to assess the therapeutic potential of oxytocin and liraglutide (LIR), a GLP‐1 analogue, in a rat model of vincristine‐induced neuropathy. Rats were injected with vincristine (VCR) at a dose of 4 mg/kg twice a week for 5 weeks. The VCR‐administered rats were divided into three groups and received saline, oxytocin, or liraglutide simultaneously with VCR. After the treatment period, electrophysiological, biochemical, histological, and immunohistochemical investigations were performed. Electromyography (EMG) recordings demonstrated significant alterations in the VCR + saline group (p < .001). Also, motor performance was decreased in the VCR + saline group (p < .05). Histologically, the axonal diameter was decreased in all groups. VCR + saline group showed significantly increased lipid peroxidation and decreased nerve growth factor (NGF) expression. However, the administration of oxytocin and liraglutide significantly prevented the EMG alterations, lipid peroxidation, and reduction in neuronal NGF expression. On the basis of these findings, oxytocin and liraglutide may be considered as potential agents for the prevention of VCR‐induced neuropathy. 相似文献
48.
Dilek Gogas Yavuz Belgin Kü?ükkaya H. ?nder Ers?z A. Süha Yal?in Kaya Emerk Sema Akalin 《Experimental diabetes research》2002,3(2):145-151
Nonenzymatic glycation of tissue and plasma
proteins may stimulate the production of oxidant
and carbonyl stress in diabetes. The aim
of this study was to evaluate the effects of
aminoguanidine (AG) on lipid peroxidation,
protein oxidation and nitric oxide (NO) release
in diabetic rat kidneys. After induction of diabetes
with streptozotocin, female Wistar rats
were divided into 2 groups. Group DAG (n=9)
rats were given AG hydrogen carbonate (1 g/L)
in drinking water and group D (n=8) was diabetic
control rats given only tap water. Group
H (n=8) was followed as healthy controls. At
the end of an 8 week period, NO release, lipid
and protein oxidation were determined in kidney
tissues. NO release was significantly lower
in diabetic rats compared with healthy controls
(p<0.05). Lipid peroxidation was significantly
high in group D (3.9 ± 0.3 nmol MDA/g tissue)
compared with the group DAG (2.6 ± 0.1 nmol
MDA/g tissue, p<0.01) and group H (2.4 ± 0.2
nmol MDA/g tissue). Protein oxidation was
significantly higher in diabetics than healthy
controls (563.8 ± 23.9, 655.8 ± 7.2 , 431.5 ±
8.8 mmol carbonyl / g tissue for group DAG, D
and H, respectively, p< 0.05). A positive correlation
between albuminuria and thiobarbituric
acid reactive substance (TBARS) levels (r= 0.54,p<0.005) and carbonyl content (r=0.70,
p<0.0005) in kidney homogenate were
observed.
Although AG treatment had no effect on NO
release, it significantly decreased lipid peroxidation
in diabetic rat cortices. Consequently
increased lipid peroxidation -as well as- protein
oxidation could be involved in the pathogenesis
of diabetic albuminuria. 相似文献
49.
Tunçel N Sener E Cerit C Karasu U Gürer F Sahintürk V Bayçu C Ak D Filiz Z 《Peptides》2005,26(5):827-836
In the present study, the effect of systemically administered vasoactive intestinal peptide (VIP) (25 ng/kg i.p.) was investigated on drug-induced rotational behavior, extra-cellular dopamine levels and histology of corpus striatum in a 6-hydroxydopamine (6-OHDA)-induced rat model of Parkinson's disease. After 15 days of 6-OHDA lesion, apomorphine-induced (0.05 mg/kg s.c.) rotational behavior of the animals significantly increased and extra-cellular dopamine levels of corpus striatum were significantly reduced. VIP reversed the rotational deficits but did not alter the decrease in striatal dopamine levels. On the other hand, histological data indicate that VIP significantly reduced neuronal death and demyelination. Electron microscopic appearance of mast cells showed ultra-structural variety between VIP-treated and 6-OHDA lesioned groups. VIP activates mast cells without any evidence of typical exocytosis, and possibly mast cells could participate in neuroprotection. Our results suggest that systemically administered VIP can attenuate the motor response changes, neuronal cell death, and myelin sheet loss characteristically associated with 12 microg 6-OHDA administration into the rat striatum. Brain mast cells seem to participate in neuronal protection. Possibly, protective cues could be produced by brain mast cells. 相似文献
50.
A gram-negative, moderately halophilic bacterium was isolated from ?amalt? Saltern area, located in the Aegean Region of Turkey. Analysis of its 16S rRNA gene sequence and physiological characteristics showed that this strain belonged to the genus Halomonas ; hence, it was designated as Halomonas sp. strain AAD12. The isolate tolerated up to 800 mg?L(-1) phenol; however, at elevated concentrations, phenol severely retarded cell growth. The increase in lag phase with increasing phenol concentrations indicated that the microorganism was undergoing serious adaptative changes. To understand the physiological responses of Halomonas sp. strain AAD12 to phenol, a 2-dimensional electrophoresis approach combined with mass spectrometric analysis was used. This approach showed that the expression of 14 protein spots were altered as phenol concentration increased from 200 to 800 mg?L(-1). Among the identified proteins were those involved in protein biosynthesis, energy, transport, and stress metabolism. So far, this is the first study on phenolic adaptation of a gram-negative, moderately halophilic bacteria using proteomic tools. The results provided new insights for understanding the general mechanism used by moderately halophilic bacteria to tolerate phenol and suggested the potential for using these microorganisms in bioremediation. 相似文献