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1.
Ruxandra Ion L. Telvi Jean-Louis Chaussain Jacques Patrick Barbet Manoel Nunes Anne Safar Marie-Odile Réthoré Marc Fellous Ken McElreavey 《Human genetics》1998,102(2):151-156
In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Ychromosome. The other genetic components of the cascade
that leads to testis formation are unknown and may be located on the Xchromosome or on the autosomes. Evidence for the existence
of several loci associated with failure of male sexual development is indicated by reports of 46,XY gonadal dysgenesis associated
with structural abnormalities of the Xchromosome or of autosomes (chromosomes9, 10, 11 and 17). In this report, we describe
the investigation of a child presenting with multiple congenital abnormalities, mental retardation and partial testicular
failure. The patient had a homogeneous de novo 46,XY,inv dup(9)(pter→p24.1::p21.1 →p23.3::p24.1→qter) chromosome complement.
No deletion was found by either cytogenetic or molecular analysis. The SRY gene and DSS region showed no abnormalities. Southern blotting dosage analysis with 9p probes and fluorescent in situ hybridisation data
indicated that the distal breakpoint of the duplicated fragment was located at 9p24.1, proximal to the SNF2 gene. We therefore suggest that a gene involved in normal testicular development and/or maintenance is present at this position
on chromosome 9.
Received: 20 January 1997 / Accepted: 5 November 1997 相似文献
2.
Ion C. Baianu 《Bulletin of mathematical biology》1980,42(3):431-446
The mathematical structures underlying the theories of organismic sets, (M, R)-systems and molecular sets are shown to be transformed naturally within the theory of categories and functors. Their natural
transformations allow the comparison of distinct entities, as well as the modelling of dynamics in “organismic” structures. 相似文献
3.
Transformations of dynamical systems are discussed in terms of adjoint, simple adjoint and weak adjoint functors. The relevance
of this approach to interpretations of nuclear transplant experiments is suggested, and three new theorems concerning the
development of biological systems are presented. Another three theorems concerning adjoint dynamical systems are proved. The
connection of these results with the theory of organismic sets developed by Rashevsky (1966, 1967a-c, 1968a-c, 1969a-c, 1971a,
b) is also investigated. 相似文献
4.
George Nicolae Daniel Ion George Mihai Nitulescu Costin Ioan Popescu 《Bioorganic & medicinal chemistry letters》2019,29(18):2527-2534
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), also known as Apo2L, has been investigated in the past decade for its promising anticancer activity due to its ability to selectively induce apoptosis in tumoral cells by binding to TRAIL receptors (TRAIL-R). Macromolecules such as agonistic monoclonal antibodies and recombinant TRAIL have not proven efficacious in clinical studies, therefore several small molecules acting as TRAIL-R agonists are emerging in the scientific literature. In this work we focus on systemizing these drug molecules described in the past years, in order to better understand and predict the requirements for a novel anti-tumoral therapy based on the TRAIL-R-induced apoptotic mechanism. 相似文献
5.
Ruxandra Bachmann-Gagescu Margo Dona Lisette Hetterschijt Edith Tonnaer Theo Peters Erik de Vrieze Dorus A. Mans Sylvia E. C. van Beersum Ian G. Phelps Heleen H. Arts Jan E. Keunen Marius Ueffing Ronald Roepman Karsten Boldt Dan Doherty Cecilia B. Moens Stephan C. F. Neuhauss Hannie Kremer Erwin van Wijk 《PLoS genetics》2015,11(10)
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and channels in the ciliary membrane, which is achieved by complex trafficking mechanisms, in part controlled by the small GTPase RAB8, and by sorting at the transition zone located at the entrance of the ciliary compartment. Mutations in the transition zone gene CC2D2A cause the related Joubert and Meckel syndromes, two typical ciliopathies characterized by central nervous system malformations, and result in loss of ciliary localization of multiple proteins in various models. The precise mechanisms by which CC2D2A and other transition zone proteins control protein entrance into the cilium and how they are linked to vesicular trafficking of incoming cargo remain largely unknown. In this work, we identify the centrosomal protein NINL as a physical interaction partner of CC2D2A. NINL partially co-localizes with CC2D2A at the base of cilia and ninl knockdown in zebrafish leads to photoreceptor outer segment loss, mislocalization of opsins and vesicle accumulation, similar to cc2d2a-/- phenotypes. Moreover, partial ninl knockdown in cc2d2a-/- embryos enhances the retinal phenotype of the mutants, indicating a genetic interaction in vivo, for which an illustration is found in patients from a Joubert Syndrome cohort. Similar to zebrafish cc2d2a mutants, ninl morphants display altered Rab8a localization. Further exploration of the NINL-associated interactome identifies MICAL3, a protein known to interact with Rab8 and to play an important role in vesicle docking and fusion. Together, these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. 相似文献
6.
Lithium Polyacrylate (LiPAA) as an Advanced Binder and a Passivating Agent for High‐Voltage Li‐Ion Batteries 下载免费PDF全文
Nicholas P. W. Pieczonka Valentina Borgel Baruch Ziv Nicole Leifer Vadim Dargel Doron Aurbach Jung‐Hyun Kim Zhongyi Liu Xiaosong Huang Sergey A. Krachkovskiy Gillian R. Goward Ion Halalay Bob R. Powell Arumugam Manthiram 《Liver Transplantation》2015,5(23)
Intensive studies of an advanced energy material are reported and lithium polyacrylate (LiPAA) is proven to be a surprisingly unique, multifunctional binder for high‐voltage Li‐ion batteries. The absence of effective passivation at the interface of high‐voltage cathodes in Li‐ion batteries may negatively affect their electrochemical performance, due to detrimental phenomena such as electrolyte solution oxidation and dissolution of transition metal cations. A strategy is introduced to build a stable cathode–electrolyte solution interphase for LiNi0.5Mn1.5O4 (LNMO) spinel high‐voltage cathodes during the electrode fabrication process by simply using LiPAA as the cathode binder. LiPAA is a superb binder due to unique adhesion, cohesion, and wetting properties. It forms a uniform thin passivating film on LNMO and conducting carbon particles in composite cathodes and also compensates Li‐ion loss in full Li‐ion batteries by acting as an extra Li source. It is shown that these positive roles of LiPAA lead to a significant improvement in the electrochemical performance (e.g., cycle life, cell impedance, and rate capability) of LNMO/graphite battery prototypes, compared with that obtained using traditional polyvinylidene fluoride (PVdF) binder for LNMO cathodes. In addition, replacing PVdF with LiPAA binder for LNMO cathodes offers better adhesion, lower cost, and clear environmental advantages. 相似文献
7.
Barreto da Silveira Ismênia Glauce de Oliveira da Silva Neto Jorge Alves da Silva Ferreira Jéssica Silva Tatiane Severo Holanda Ioná Santos Araújo 《Molecular biology reports》2021,48(10):6887-6895
Molecular Biology Reports - Leprosy is a chronic infectious disease caused by Mycobacterium leprae and persists as a serious public health problem in Brazil. This microorganism is inculturable,... 相似文献
8.
Ruxandra F. Sîrbulescu Iulian Ilieş Günther K. H. Zupanc 《Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology》2009,195(7):699-714
In contrast to mammals, teleost fish exhibit an enormous potential to regenerate adult spinal cord tissue after injury. However,
the mechanisms mediating this ability are largely unknown. Here, we analyzed the major processes underlying structural and
functional regeneration after amputation of the caudal portion of the spinal cord in Apteronotus leptorhynchus, a weakly electric teleost. After a transient wave of apoptotic cell death, cell proliferation started to increase 5 days
after the lesion and persisted at high levels for at least 50 days. New cells differentiated into neurons, glia, and ependymal
cells. Retrograde tract tracing revealed axonal re-growth and innervation of the regenerate. Functional regeneration was demonstrated
by recovery of the amplitude of the electric organ discharge, a behavior generated by spinal motoneurons. Computer simulations
indicated that the observed rates of apoptotic cell death and cell proliferation can adequately explain the re-growth of the
spinal cord.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
9.
Olga Kononova Joost Snijder Melanie Brasch Jeroen Cornelissen Ruxandra?I. Dima Kenneth?A. Marx Gijs?J.L. Wuite Wouter?H. Roos Valeri Barsegov 《Biophysical journal》2013,105(8):1893-1903
Physical properties of capsids of plant and animal viruses are important factors in capsid self-assembly, survival of viruses in the extracellular environment, and their cell infectivity. Combined AFM experiments and computational modeling on subsecond timescales of the indentation nanomechanics of Cowpea Chlorotic Mottle Virus capsid show that the capsid’s physical properties are dynamic and local characteristics of the structure, which change with the depth of indentation and depend on the magnitude and geometry of mechanical input. Under large deformations, the Cowpea Chlorotic Mottle Virus capsid transitions to the collapsed state without substantial local structural alterations. The enthalpy change in this deformation state ΔHind = 11.5–12.8 MJ/mol is mostly due to large-amplitude out-of-plane excitations, which contribute to the capsid bending; the entropy change TΔSind = 5.1–5.8 MJ/mol is due to coherent in-plane rearrangements of protein chains, which mediate the capsid stiffening. Direct coupling of these modes defines the extent of (ir)reversibility of capsid indentation dynamics correlated with its (in)elastic mechanical response to the compressive force. This emerging picture illuminates how unique physico-chemical properties of protein nanoshells help define their structure and morphology, and determine their viruses’ biological function. 相似文献
10.