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51.
A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene 总被引:18,自引:0,他引:18
G Tanigawa J A Jarcho S Kass S D Solomon H P Vosberg J G Seidman C E Seidman 《Cell》1990,62(5):991-998
An alpha/beta cardiac myosin heavy chain (MHC) hybrid gene is coinherited with familial hypertrophic cardiomyopathy (FHC) in one kindred. FHC is a disease of the heart muscle characterized by a thickening of the left ventricular wall with myocyte and myofibrillar disarray that is inherited as an autosomal dominant trait. We demonstrate here and in the accompanying article that the cardiac MHC genes, which encode integral myofibrillar components, are mutated in all affected individuals from two unrelated families with FHC. In one kindred, an unequal crossover event during meiosis may have produced the alpha/beta cardiac MHC hybrid gene that is present in affected individuals. We conclude that mutations in the cardiac MHC genes can cause FHC. 相似文献
52.
Acid extracts of rat intestine contain a material which metabolizes cholecystokinin-33 (CCK-33) to CCK-12. Soybean trypsin inhibitor had little effect on CCK metabolism by the intestinal material. The molecular weight of the CCK-metabolizing activity, estimated by gel filtration, was 34,000. These data suggest rat intestine contains a nontrypsin CCK-metabolizing enzyme. Results from gel filtration also suggest that large CCK forms can be artifactually degraded to smaller ones during chromatography. 相似文献
53.
Purification and characterization of the inositol 1,4,5-trisphosphate receptor protein from rat vas deferens 总被引:5,自引:0,他引:5 下载免费PDF全文
Robert J. Mourey Ajay Verma Surachai Supattapone Solomon H. Snyder 《The Biochemical journal》1990,272(2):383-389
Among rat peripheral tissues examined, Ins(1,4,5)P(3) receptor binding is highest in the vas deferens, with levels about 25% of those of the cerebellum. We have purified the InsP(3) receptor binding protein from rat vas deferens membranes 600-fold. The purified protein displays a single 260 kDa band on SDS/PAGE, and the native protein has an apparent molecular mass of 1000 kDa, the same as in cerebellum. The inositol phosphate specificity, pH-dependence and influence of various reagents are the same for purified vas deferens and cerebellar receptors. Whereas particulate InsP(3) binding in cerebellum is potently inhibited by Ca(2+), particulate and purified vas deferens receptor binding of InsP(3) is not influenced by Ca(2+). Vas deferens appears to lack calmedin activity, but the InsP(3) receptor is sensitive to Ca(2+) inhibition conferred by brain calmedin. The vas deferens may prove to be a valuable tissue for characterizing functional aspects of InsP(3) receptors. 相似文献
54.
The humanNBR1cDNA has previously been identified using polyclonal sera to CA125, an ovarian tumor antigen used in monitoring ovarian cancer. The gene was mapped to theBRCA1region on chromosome 17q21 and subsequently found to lie in close proximity to the recently identifiedBRCA1gene. The NBR1 protein has a B-box motif but the function of the protein is as yet unknown. To investigate the function and importance of this gene, we have studied the conservation of this gene in other species and in particular in the mouse. We have isolated murineNbr1cDNA and genomic clones. Translation of the cDNA sequence indicates that the protein is highly conserved, being 89% similar and 84% identical to the human. Analysis of the murineNbr1genomic clones indicates that it maps less than 1 kb from theBrca1gene and that, unlike that in human, this region is not duplicated. 相似文献
55.
56.
B. O. Solomon A. -P. Zeng H. Biebl A. O. Ejiofor C. Posten W. D. Deckwer 《Applied microbiology and biotechnology》1994,42(2-3):222-226
Product formation during anaerobic degradation of glycerol byKlebsiella pneumoniae DSM 2026, under glycerol limitation and glycerol excess in continugius cultures, has been investigated. Major and minor products and by-products as well as gaseous products were measured. The results indicated a positive correlation between specific glycerol uptake and most product formation rates under glycerol limitation. The production of 1,3-propanediol, lactate, formate, acetate, succinate and the by-products of anaerobic glycerol degradation byK. pneumoniae, acetoin and 2,3-butanediol, was favoured by glycerol excess, while hydrogen generation and ethanol formation were best under glycerol limitation. It was also found that under glycerol limitation the rate of hydrogen evolution was generally higher than the CO2 production rate while under excess glycerol the reverse was true. Hence, on the basis of the ratio of the specific rates of evolution of H2 and CO2 (q
H
2/q
CO
2), it is possible to infer the existence of glycerol limitation. On the basis of the carbon and available electron balances, which are independent of metabolic pathways, the data are consistent. The NADH2 balance, which took into consideration the pathways of product formation, was also tested to check the validity of the assumed pathways and to check critically the consistency of the data. Good balances were also obtained.[ 相似文献
57.
Mark D. Wittman John F. Kadow Kahnie Pham Leung Kinwa Harold A. Mastalerz Dolatrai M. Vyas William C. Rose Wyle Solomon Nada Zein 《Bioorganic & medicinal chemistry letters》1994,4(24):2925-2928
The thiol activation and aromatization of bicyclo[7.1.0]enediynes was found to be dependent of the nature of the propargyl substituent. These effects are correlated to antitumor activity. 相似文献
58.
A. O. Ejiofor C. H. Posten B. O. Solomon W. -D. Deckwer 《Bioprocess and biosystems engineering》1994,11(4):135-144
Parameter identification of structured models is often a problem in biotechnology, because the poor data situation and the number of unknown parameters only allow for inaccurate estimates. But often only a subset of all kinetic parameters of the model are of interest for production purposes, e.g. for fed-batch cultivation. These parameters should be estimated with a given accuracy. In addition, the experiments for information acquisition with respect to these parameters should be as simple as possible and should consider some practical restrictions. In this contribution a fed-batch feeding strategy is proposed to allow for an accurate estimation of yield and of critical growth rate of baker's yeast. The feeding also allows for economic and stereotyped use of staff and equipment and is therefore suitable for routine use in screening of strains and media. The overall pattern is similar to that one, usually used in production scale to minimize errors by limited model validity. After an initial phase for achieving a reproducible state three different growth rates are adjusted to cover the range of possible critical growth rates. From biomass and ethanol measurements yield and critical growth rate can be estimated with an accuracy of about 2.1%. The fermentation pattern ends up with a constant feeding rate to simulate a limited oxygen transfer rate and to allow for an uptake of residual sugar and ethanol before a dough test can be carried out. Beside experimental results simulations and sensitivity analyses are shown.List of Symbols
P
ethanol concentration
-
S
substrate concentration
-
S
f
substrate concentration in feed
-
T
fermentation time
-
V
fermenter volume
-
X
biomass concentration
- C
measurement error covariance matrix
- F
Fisher information matrix
- X
state variables
- Y
output variables
- X
p
state sensitivity functions with respect to parameters
- Y
p
output sensitivity functions
-
e
eigenvectors
-
k
vector of limitation and inhibition parameters
-
n
number of observations
-
q
in
feeding stream
-
q
b
stream for samples and ammonia feed
-
r
vector of specific turnover rates
-
y
vector of yields
-
specific weight
-
eigenvalues
-
specific growth rate
-
set
exponent in exponential feeding
-
standard deviation
Dedicated to the 65th birthday of Professor Fritz Wagner.A. O. Ejiofor and B. O. Solomon are grateful to the Alexander von Humboldt Stiftung for granting them fellowships and to GBF for providing all the materials necessary for their successful research stay in Germany. 相似文献
59.
60.
A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1). 总被引:6,自引:6,他引:0
We describe a detailed somatic cell hybrid map of human chromosome 17q11.2-q23, containing the familial breast and ovarian cancer locus (BRCA1) and highly informative closely linked markers. An X-irradiation panel of 38 hamster/human and mouse/human hybrids with fragments of chromosome 17 was generated and characterized with 22 STS markers from this chromosome. A detailed map of 61 probes onto chromosome 17q, subdividing the chromosome arm into 25 regions, was done by using a panel of hybrids with well-defined breakpoints and nine chromosome-mediated gene transfectants. Our localization of RARA, TOP2, EDH17B1 and 2, and possibly WNT3, between THRA1 and D17S181, two markers known to flank BRCA1, suggests that any of these is a potential candidate for the BRCA1 locus. The marker D17S579 (Mfd188), which is believed to be very close to BRCA1, maps closest to the EDH17B genes. 相似文献