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121.
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds 总被引:16,自引:12,他引:4 下载免费PDF全文
Huda Y. Zoghbi Carla Jodice Lodewijk A. Sandkuijl Thomas J. Kwiatkowski Alanna E. McCall Sally A. Huntoon Patrizia Lulli Maria Spadaro Michael Litt Howard M. Cann Marina Frontali Luciano Terrenato 《American journal of human genetics》1991,49(1):23-30
We studied three large kindreds with the HLA-linked form of spinocerebellar ataxia (SCA1) in order to localize the SCA1 locus on the short arm of chromosome 6 (6p). Two loci containing highly informative dinucleotide repeat sequences were used for linkage analysis. These two loci are D6S89, which is telomeric to the HLA region, and T complex-associated testes-expressed 1 (TCTE1), centromeric to HLA. Pairwise linkage analysis of SCA1 and D6S89 revealed a maximum lod score of 5.86 in the Houston SCA1 (HSCA1) kindred and of 8.08 in the Calabrian SCA1 (SCA1) kindreds, at recombination fractions of .050 and .022, respectively. A maximum pairwise lod score of 4.54 at a recombination frequency of .100 was obtained for SCA1 and TCTE1 in the HSCA1 kindred. No evidence for linkage was detected between TCTE1 and SCA1 in the CSCA1 kindreds. Multilocus linkage analysis of SCA1, HLA, and D6S89 in all three kindreds provided strong evidence for localization of the SCA1 locus telomeric to the HLA regions. However, multilocus linkage analysis of SCA1, HLA, and TCTE1 with HSCA1 family genotypes indicated the possibility of a location of the SCA1 locus centromeric to HLA. An analysis of HSCA1 recombinants in this region of chromosome 6 revealed relatively high recombination frequencies between HLA and each of the other two markers and relatively low frequencies between the latter and SCA1, predicting that the SCA1 locus would tend to segregate away from HLA together with D6S89 or TCTE1, as found with the three-point linkage analyses for this family.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
122.
123.
Highly informative dinucleotide repeat polymorphisms were identified at the T-complex-associated-testes-expressed-1 (TCTE1) locus on human chromosome 6p. Electrophoresis of single-stranded DNA on native gels facilitated the analysis of the dinucleotide polymorphisms. Linkage mapping positions this marker midway between the centromere and HLA with recombination fractions as follows: D6Z1-0.21-TCTE1-0.24-HLA. Two-color fluorescence in situ hybridization places TCTE1 proximal to CRIL171 (D6S19). Together, linkage and in situ hybridization indicate that the order of the loci is D6Z1-D6S4-D6S90-TCTE1-D6S19-D6S29-HLA-telomere. A sequence tagged site (STS) was established, and three yeast artificial chromosome (YAC) clones were identified for the TCTE1 locus. 相似文献
124.
Respiratory syncytial virus-inducible BCL-3 expression antagonizes the STAT/IRF and NF-kappaB signaling pathways by inducing histone deacetylase 1 recruitment to the interleukin-8 promoter 下载免费PDF全文
Jamaluddin M Choudhary S Wang S Casola A Huda R Garofalo RP Ray S Brasier AR 《Journal of virology》2005,79(24):15302-15313
125.
M. A. Parvez Mahmud Nazmul Huda Shahjadi Hisan Farjana Mohsen Asadnia Candace Lang 《Liver Transplantation》2018,8(2)
Implantable medical devices (IMDs) have experienced a rapid progress in recent years to the advancement of state‐of‐the‐art medical practices. However, the majority of this equipment requires external power sources like batteries to operate, which may restrict their application for in vivo situations. Furthermore, these external batteries of the IMDs need to be changed at times by surgical processes once expired, causing bodily and psychological annoyance to patients and rising healthcare financial burdens. Currently, harvesting biomechanical energy in vivo is considered as one of the most crucial energy‐based technologies to ensure sustainable operation of implanted medical devices. This review aims to highlight recent improvements in implantable triboelectric nanogenerators (iTENG) and implantable piezoelectric nanogenerators (iPENG) to drive self‐powered, wireless healthcare systems. Furthermore, their potential applications in cardiac monitoring, pacemaker energizing, nerve‐cell stimulating, orthodontic treatment and real‐time biomedical monitoring by scavenging the biomechanical power within the human body, such as heart beating, blood flowing, breathing, muscle stretching and continuous vibration of the lung are summarized and presented. Finally, a few crucial problems which significantly affect the output performance of iTENGs and iPENGs under in vivo environments are addressed. 相似文献
126.
Fan Meng Guo-xi Xie Derek Chalmers Caurnel Morgan Stanley J. Watson Jr. Huda Akil 《Neurochemical research》1994,19(5):613-621
A full-length complementary DNA (cDNA) clone encoding the guinea pig brain A2 adenosine receptor has been isolated by polymerase chain reaction (PCR) and low-stringency-hybridization screening of a guinea pig brain cDNA library. This cDNA contains a long open reading frame encoding a 409-amino acid-residue protein which is highly homologous to the A2 adenosine receptors previously cloned from other species. Hydrophobicity analysis of the deduced protein sequence reveals seven hydrophobic regions, characteristic of a member of the G-protein-coupled receptor superfamily. Radioligand binding assay and functional (GTPase and cAMP) assays of the receptor, transiently expressed in mammalian cells, demonstrate typical characteristics of the A2 type adenosine receptor. The messenger RNA (mRNA) of this A2 receptor is found in the brain, heart, kidney and spleen. Receptor autoradiography with [3H]CGS21680, a specific A2 agonist, and in situ hybridization with A2 cRNA probe in guinea pig brain indicate that the receptor is expressed exclusively in the caudate nucleus. The pharmacological profile and anatomical distribution of this receptor indicate that it is of the A2a subtype. This work represents the first cloning of an A2a receptor in a rodent species, offers a complete pharmacological characterization of the receptor and provides an anatomical comparison between binding profile and gene expression of the receptor.Abbreviations ADAC
adenosine amine congener
- BA
N6-benzyladenosine
- bp
nucleotide base pair
- cAMP
cyclic adenosine 3,5-monophosphate
- CCPA
2-chloro-N6-cyclopentyladenosine
- CGS 21680
2-p-(2-carboxyethyl)phenethylamino-5-N-ethylcarboxamido adenosine hydrochloride
- CHA
N6-cyclohexyladenosine
- CNS
central nervous system
- CPA
N6-cyclohexyladenosine
- CNS
central nervous system
- CPA
N6-cyclopentyladenosine
- CPX
8-cyclopentyl-1,3-dipropylxanthine
- DME
Dulbecco's modified Eagle's medium
- DMPX
3,7-dimethyl-1-propargylxanthine
- DPMX
1,3-dipropyl-7-methylxanthine
- DPX
1,3-dipropyl-8-(2-amono-4-chlorophenyl)xanthine
- FCS
fetal calf serum
- IBMX
3-isobutyl-1-methylxanthine
- KHB
Kreb-HEPES buffer
- MECA
5-N-methylcarboxamidoadenosine
- NECA
5-N-ethylcarboxamidoadenosine
- D-PBS
Dulbecco's phosphate buffered saline
- PCR
polymerase chain reaction
- R-PIA
R(–)-N6-(2-phenylisopropyl)adenosine
- SSPE
sodium chloride-sodium phosphate-EDTA buffer
- TM
transmembrane domain
- XAC
xanthine amine congener
Special issue dedicated to Dr. Bernard W. Agranoff 相似文献
127.
Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6 总被引:6,自引:0,他引:6
The human methylmalonyl CoA mutase (MCM) cDNA has been used to localize the MUT locus on the short arm of chromosome 6 proximal to the glyoxalase locus in 6p deletion cell lines. A HindIII polymorphism identified by the MCM cDNA was used to study linkage relationships of MUT to HLA (A-B-DQ-DR) and D6S4 in the reference CEPH families. The maximum lod score for MUT versus HLA was 3.04 at a recombination fraction of 0.28. The maximum lod score for MUT versus D6S4 was 22.93 at a recombination fraction of 0.01. These data suggest that MUT and D6S4 loci are tightly linked and may be used as one locus in a haplotype form for linkage studies on proximal 6p and diagnostic analysis of pedigrees with mut methylmalonic acidemia. 相似文献
128.
Fathul Huda Yiping Fan Mamiko Suzuki Ayumu Konno Yasunori Matsuzaki Nobutaka Takahashi Jerry K. Y. Chan Hirokazu Hirai 《PloS one》2016,11(11)
Mesenchymal stem cells (MSCs) migrate to damaged tissues, where they participate in tissue repair. Human fetal MSCs (hfMSCs), compared with adult MSCs, have higher proliferation rates, a greater differentiation capacity and longer telomeres with reduced senescence. Therefore, transplantation of quality controlled hfMSCs is a promising therapeutic intervention. Previous studies have shown that intravenous or intracortical injections of MSCs result in the emergence of binucleated cerebellar Purkinje cells (PCs) containing an MSC-derived marker protein in mice, thus suggesting a fusion event. However, transdifferentiation of MSCs into PCs or transfer of a marker protein from an MSC to a PC cannot be ruled out. In this study, we unequivocally demonstrated the fusion of hfMSCs with murine PCs through a tetracycline-regulated (Tet-off) system with or without a Cre-dependent genetic inversion switch (flip-excision; FLEx). In the FLEx-Tet system, we performed intra-cerebellar injection of viral vectors expressing tetracycline transactivator (tTA) and Cre recombinase into either non-symptomatic (4-week-old) or clearly symptomatic (6–8-month-old) spinocerebellar ataxia type 1 (SCA1) mice. Then, the mice received an injection of 50,000 genetically engineered hfMSCs that expressed GFP only in the presence of Cre recombinase and tTA. We observed a significant emergence of GFP-expressing PCs and interneurons in symptomatic, but not non-symptomatic, SCA1 mice 2 weeks after the MSC injection. These results, together with the results obtained using age-matched wild-type mice, led us to conclude that hfMSCs have the potential to preferentially fuse with degenerating PCs and interneurons but not with healthy neurons. 相似文献
129.
Gang Chen Ying Bai Li Ren Dan Zhu Yanhua Li Meiying Fang Huda Al-Kateb Olena Doran 《PloS one》2015,10(1)
Steroids metabolism plays an important role in mammals and contributes to quality of pig meat. The main objective of this study was to identify metabolites of androstenone, 17β-estradiol and dihydrotestosterone using primary cultured pig hepatocytes as a model system. The role of 3β-hydroxysteroid dehydrogenase (3βHSD) in regulation of steroid metabolism was also validated using trilostane, a specific 3βHSD inhibitor. Steroid glucuronide conjugated metabolites were detected by liquid chromatography time of flight mass spectrometry (LC-TOF-MS). 3βHSD enzyme was essential for metabolism of androstenone to 5α-androst-16-en-3β-ol, which then formed androstenone glucuronide conjugate. Metabolism of 17β-estradiol was accompanied by formation of glucuronide-conjugated estrone and glucuronide-conjugated estradiol. The ratio of the two metabolites was around 5∶1. 3βHSD enzyme was not involved in 17β-estradiol metabolism. 5α-Dihydrotestosterone-17β-glucuronide was identified as a dihydrotestosterone metabolite, and this metabolism was related to 3βHSD enzyme activity as demonstrated by inhibition study. 相似文献
130.
Samir Radwan Huda Mahmoud Majida Khanafer Aamar Al-Habib Redha Al-Hasan 《Microbial ecology》2010,60(2):354-363
Gravel particles from four sites along the Arabian Gulf coast in autumn, winter, and spring were naturally colonized with
microbial consortia containing between 7 and 400 × 102 cm−2 of cultivable oil-utilizing bacteria. The 16S rRNA gene sequences of 70 representatives of oil-utilizing bacteria revealed
that they were predominantly affiliated with the Gammaproteobacteria and the Actinobacteria. The Gammaproteobacteria comprised among others, the genera Pseudomonas, Pseudoalteromonas, Shewanella, Marinobacter, Psychrobacter, Idiomarina, Alcanivorax, Cobetia, and others. Actinobacteria comprised the genera Dietzia, Kocuria, Isoptericola, Rhodococcus, Microbacterium, and others. In autumn, Firmicutes members were isolated from bay and nonbay stations while Alphaproteobacteria were detected only during winter from Anjefa bay station. Fingerprinting by denaturing gradient gel electrophoresis of amplified
16S rRNA genes of whole microbial consortia confirmed the culture-based bacterial diversities in the various epilithons in
various sites and seasons. Most of the representative oil-utilizing bacteria isolated from the epilithons were diazotrophic
and could attenuate oil also in nitrogen-rich (7.9–62%) and nitrogen-free (4–54%) cultures, which, makes the microbial consortia
suitable for oil bioremediation in situ, without need for nitrogen supplementation. This was confirmed in bench-scale experiments
in which unfertilized oily seawater was bioremediated by epilithon-coated gravel particles. 相似文献