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Z. Kato Seiji Fukuda Shunji Tomatsu Hugo Vega Teruo Yasunaga Atsushi Yamagishi Naoto Yamada A. Valencia Luis Alejandro Barrera Kazuko Sukegawa Tadao Orii Naomi Kondo 《Human genetics》1997,101(1):97-101
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate
sulfatase (GALNS). In previous studies, we have found two common mutations in Caucasians and Japanese, respectively. To characterize
the mutational spectrum in various ethnic groups, mutations in the GALNS gene in Colombian MPS IVA patients were investigated,
and genetic backgrounds were extensively analyzed to identify racial origin, based on mitochondrial DNA (mtDNA) lineages.
Three novel missense mutations never identified previously in other populations and found in 16 out of 19 Colombian MPS IVA
unrelated alleles account for 84.2% of the alleles in this study. The G301C and S162F mutations account for 68.4% and 10.5%
of mutations, respectively, whereas the remaining F69V is limited to a single allele. The skewed prevalence of G301C in only
Colombian patients and haplotype analysis by restriction fragment length polymorphisms in the GALNS gene suggest that G301C
originated from a common ancestor. Investigation of the genetic background by means of mtDNA lineages indicate that all our
patients are probably of native American descent.
Received: 2 January 1997 / Accepted: 10 June 1997 相似文献
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Del Pozo Alejandro; Ovalle Carlos; Aronson James; Avendano Julia 《Annals of botany》2000,85(6):809-814
The phenological development of nine Chilean accessions of Medicagopolymorpha, collected along a northsouth aridity gradient,and of two commercial cultivars of the same species, were comparedin 12 sequential outdoor sowings at Cauquenes (35°58'S,72°17'W, elev. 177 m), in the sub-humid Mediterranean climatezone of Chile. A glasshouse experiment was also conducted toevaluate the effect of photoperiod on phenophase timing. Therewas a clear gradient in precocity among the Chilean accessionsin both experiments: accessions MPO-9-88 and MPO-7-88, fromthe arid zone, were the earliest-flowering accessions, whereasMPO-36-88 from the humid Mediterranean zone was the latest.Both experiments revealed significant variation among the Chileanaccessions in the response of flowering time to variation inphotoperiod regime. Differences in days to flowering betweenthe least- (8 h) and the most- (16 h) inductive photoperiodswere lower in precocious accessions from arid and semi-aridzones, than in late-flowering accessions from more humid zones.Rate of progress to flowering, defined as the inverse of timefrom emergence to first flower appearance (1/ f), was relatedto mean diurnal temperature, or to both mean diurnal temperatureand mean photoperiod. In two early-flowering accessions fromthe arid zone, and in the Australian cultivar CircleValley, 1/ f was affected significantly (P < 0.05)by both temperature and photoperiod. In the remaining accessions,no significant responses to temperatures were detected; 1/ fwas influenced significantly by photoperiod only. Copyright2000 Annals of Botany Company Annual medic, aridity gradient, Medicago polymorpha, flowering time, rate of development 相似文献
5.
Léniz A. Portillo M. P. Fernández-Quintela Alfredo Macarulla M. T. Sarasua-Miranda A. del Hoyo M. Díez-López I. 《Journal of physiology and biochemistry》2019,75(3):311-319
Journal of Physiology and Biochemistry - Infants born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature, and metabolic alterations in later... 相似文献
6.
Ingrid Garzón Victor Carriel Ana Belén Marín-Fernández Ana Celeste Oliveira Juan Garrido-Gómez Antonio Campos María del Carmen Sánchez-Quevedo Miguel Alaminos 《PloS one》2012,7(12)
Temporo-mandibular joint disc disorders are highly prevalent in adult populations. Autologous chondrocyte implantation is a well-established method for the treatment of several chondral defects. However, very few studies have been carried out using human fibrous chondrocytes from the temporo-mandibular joint (TMJ). One of the main drawbacks associated to chondrocyte cell culture is the possibility that chondrocyte cells kept in culture tend to de-differentiate and to lose cell viability under in in-vitro conditions. In this work, we have isolated human temporo-mandibular joint fibrochondrocytes (TMJF) from human disc and we have used a highly-sensitive technique to determine cell viability, cell proliferation and gene expression of nine consecutive cell passages to determine the most appropriate cell passage for use in tissue engineering and future clinical use. Our results revealed that the most potentially viable and functional cell passages were P5–P6, in which an adequate equilibrium between cell viability and the capability to synthesize all major extracellular matrix components exists. The combined action of pro-apoptotic (TRAF5, PHLDA1) and anti-apoptotic genes (SON, HTT, FAIM2) may explain the differential cell viability levels that we found in this study. These results suggest that TMJF should be used at P5–P6 for cell therapy protocols. 相似文献
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E.M. del Campo A. del Hoyo C. Royo L.M. Casano R. lvarez E. Barreno 《Molecular phylogenetics and evolution》2010,57(3):1323-1328
9.
Betharia Swati Rondόn-Ortiz Alejandro N. Brown Dennis A. 《Neurochemical research》2019,44(8):1878-1892
Neurochemical Research - Parkinson’s disease (PD) is a prevalent, progressive, neurodegenerative disorder with no known cure. Oxidative stress has been found to play a significant role in its... 相似文献
10.
Paloma Rocha Arakaki Paula Andrea Borges Salgado Joo Diego de Agostini Losano Dbora Rodrigues Gonalves Rodrigo del Rio do Valle Ricardo Jos Garcia Pereira Marcilio Nichi 《American journal of primatology》2019,81(12)
Wild animal genetic resource banking (GRB) represents a valuable tool in conservation breeding programs, particularly in cases involving endangered species such as the golden‐headed lion tamarin (Leontopithecus chrysomelas). Thus, we aimed to assess a sperm freezing protocol for golden‐headed lion tamarins using two different exenders: BotuBOV® (BB) and Test Yolk Buffer® (TYB). Ejaculates were collected by penile vibrostimulation from animals housed at São Paulo Zoological Park Foundation, São Paulo, Brazil, and after immediate analysis, two aliquots were diluted in BB and TYB. Postthawing samples were evaluated for total and progressive motility, plasma membrane and acrosome integrities, mitochondrial activity, susceptibility to oxidative stress, and sperm–egg‐binding. No differences between BB and TYB were found for most seminal parameters, except for acrosome integrity and susceptibility to oxidative stress (in both cases BB showed higher values). However, in spite of these differences and regardless of the extender used, postthaw sperm motility and viability with the described protocol were encouraging (on average >50% and >80%, respectively), indicating that sperm cryopreservation may be a short‐term measure for the conservation of golden‐headed lion tamarins. 相似文献