排序方式: 共有28条查询结果,搜索用时 15 毫秒
1.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin 总被引:6,自引:0,他引:6
Levy-Nissenbaum E Betz RC Frydman M Simon M Lahat H Bakhan T Goldman B Bygum A Pierick M Hillmer AM Jonca N Toribio J Kruse R Dewald G Cichon S Kubisch C Guerrin M Serre G Nöthen MM Pras E 《Nature genetics》2003,34(2):151-153
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology. 相似文献
2.
Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain 总被引:34,自引:0,他引:34
Liu Z Sun C Olejniczak ET Meadows RP Betz SF Oost T Herrmann J Wu JC Fesik SW 《Nature》2000,408(6815):1004-1008
The inhibitor-of-apoptosis proteins (IAPs) regulate programmed cell death by inhibiting members of the caspase family of enzymes. Recently, a mammalian protein called Smac (also named DIABLO) was identified that binds to the IAPs and promotes caspase activation. Although undefined in the X-ray structure, the amino-terminal residues of Smac are critical for its function. To understand the structural basis for molecular recognition between Smac and the IAPs, we determined the solution structure of the BIR3 domain of X-linked IAP (XIAP) complexed with a functionally active nine-residue peptide derived from the N terminus of Smac. The peptide binds across the third beta-strand of the BIR3 domain in an extended conformation with only the first four residues contacting the protein. The complex is stabilized by four intermolecular hydrogen bonds, an electrostatic interaction involving the N terminus of the peptide, and several hydrophobic interactions. This structural information, along with the binding data from BIR3 and Smac peptide mutants reported here, should aid in the design of small molecules that may be used for the treatment of cancers that overexpress IAPs. 相似文献
3.
J. Boniver L. J. Simar R. Courtoy E. H. Betz 《Cellular and molecular life sciences : CMLS》1977,33(11):1505-1506
Summary Ultrastructural autoradiographic studies of mouse thymic blast cells after H3 Tdr injection show that their fine nuclear structure is related to their position in the cell cycle. The variations in the composition of the subcapsular blast cell population during radiation-induced leukemogenesis indicate kinetic changes in thymic lymphopoiesis, which are probably due to the oncogenic process. 相似文献
4.
H. Barbason A. Fridman-Manduzio E. H. Betz 《Cellular and molecular life sciences : CMLS》1976,32(1):106-108
Summary The chronic administration of diethylnitrosamine in drinking water induces liver tumors in the rat. The preneoplastic period may be divided in two phases differing mainly in the loss of circadian control of mitotic activity in hepatocytes. 相似文献
5.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 总被引:13,自引:0,他引:13
R C Betz B G Schoser D Kasper K Ricker A Ramírez V Stein T Torbergsen Y A Lee M M N?then T F Wienker J P Malin P Propping A Reis W Mortier T J Jentsch M Vorgerd C Kubisch 《Nature genetics》2001,28(3):218-219
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases. 相似文献
6.
Evolution in action 总被引:3,自引:0,他引:3
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Andreas Bauwens Josefine Betz Iris Meisen Björn Kemper Helge Karch Johannes Müthing 《Cellular and molecular life sciences : CMLS》2013,70(3):425-457
The two major Shiga toxin (Stx) types, Stx1 and Stx2, produced by enterohemorrhagic Escherichia coli (EHEC) in particular injure renal and cerebral microvascular endothelial cells after transfer from the human intestine into the circulation. Stxs are AB5 toxins composed of an enzymatically active A subunit and the pentameric B subunit, which preferentially binds to the glycosphingolipid globotriaosylceramide (Gb3Cer/CD77). This review summarizes the current knowledge on Stx-caused cellular injury and the structural diversity of Stx receptors as well as the initial molecular interaction of Stxs with the human endothelium of different vascular beds. The varying lipoforms of Stx receptors and their spatial organization in lipid rafts suggest a central role in different modes of receptor-mediated endocytosis and intracellular destiny of the toxins. The design and development of tailored Stx neutralizers targeting the oligosaccharide–toxin recognition event has become a very real prospect to ameliorate or prevent life-threatening renal and neurological complications. 相似文献
9.
Driving involves long hours of physical work within c onfined compartment. Taxi drivers usually work with prolonged working hours, add itional stress may likely be induced on particular body limbs. Occupational heal th may occur and working efficiency may potentially be affected resulting fr om fatigues, pains or diseases. These problems, however, could be remedied if mo re attention is paid on seating design, the workplace and driving postures adopt ed. Ergonomics design can provide better understanding... 相似文献
10.
M. Delrez V. Ikeh J. R. Maisin G. Mattelin J. Haot E. H. Betz 《Cellular and molecular life sciences : CMLS》1978,34(9):1221-1222
Summary In mouse, the administration of chemical protectors before an irradiation induces a more rapid bone marrow regeneration and an increased lymphoid rebound. In the thymus the late atrophy is reduced. Separately administrated, the protectors decrease greatly the thymocytes number but have no effect on the marrow population. 相似文献