排序方式: 共有37条查询结果,搜索用时 15 毫秒
1.
2.
A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. 总被引:22,自引:0,他引:22
B M Cattanach J A Barr E P Evans M Burtenshaw C V Beechey S E Leff C I Brannan N G Copeland N A Jenkins J Jones 《Nature genetics》1992,2(4):270-274
The best examples of imprinting in humans are provided by the Angelman and Prader-Willi syndromes (AS and PWS) which are associated with maternal and paternal 15q11-13 deletions, respectively, and also with paternal and maternal disomy 15. The region of the deletions has homology with a central part of mouse chromosome 7, incompletely tested for imprinting effects. Here, we report that maternal duplication for this region causes a murine imprinting effect which may correspond to PWS. Paternal duplication was not associated with any detectable effect that might correspond with AS. Gene expression studies established that Snrpn is not expressed in mice with the maternal duplication and suggest that the closely-linked Gabrb-3 locus is not subject to imprinting. Finally, an additional new imprinting effect is described. 相似文献
3.
A remarkable new eucoiline genus and species, Muhaka icipe, is described herein. The genus is clearly a Kleidotomini, but is distinguished from other genera in the tribe by a unique head and scutellar morphology. The genus belongs to the ‘wedge-head’-syndrome group of species that, to date, is unique to Afrotropical eucoilines. The new genus and species is reminiscent of Stentorceps Quinlan and Nanocthulhu Buffington, but is readily distinguished from these genera. Muhaka was collected from a threatened kaya (sacred forest) of coastal Kenya. The biological importance of this and other kaya forests, as well as their protection, is discussed.http://www.zoobank.org/urn:lsid:zoobank.org:pub:6918ED2C-69A4-48FC-A1E4-2B5DFF58E876 相似文献
4.
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 总被引:12,自引:0,他引:12
Zhang Q Zhao B Li W Oiso N Novak EK Rusiniak ME Gautam R Chintala S O'Brien EP Zhang Y Roe BA Elliott RW Eicher EM Liang P Kratz C Legius E Spritz RA O'Sullivan TN Copeland NG Jenkins NA Swank RT 《Nature genetics》2003,33(2):145-153
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products directly interact. Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles. 相似文献
5.
Résumé L'analyse des acides aminés de la cystinurie du type I-III dans l'urine de deux enfants d'un hétérozygote double a révélé que les quantité d'acides aminés dibasiques excrétées en 24 h sont celles qui furent trouvées chez les hétérozygotes de la cystinurie du type III. Les données expérimentales s'accordent sur ce point que les types biochimiquement hétérogènes de la cystinurie sont règiés par des allèles. 相似文献
6.
Hepatitis B surface antigen produced by a human hepatoma cell line. 总被引:10,自引:0,他引:10
7.
W N Kuo J L Williams T Floyd-Jones C F Duggans D L Boone S O Smith R F Copeland 《Experientia》1979,35(8):997-998
Decreased activities of both the inhibitory modulator of adenosine 3':5'-monophosphate (cAMP)-dependent protein kinase (A-PK) as well as the stimulatory modulator of guanosine 3':5'-monophosphate (cGMP)-dependent protein kinase (G-PK) from the mouse cerebellum were noted due to the administration of excessive doses of ethanol, caffeine, and phenobarbital for up to 28 days. The dose-dependent of the inhibition of A-PK or the stimulation of G-PK was observed as a function of the amount of protein kinase modulators in the cerebellum of mice receiving different doses of ethanol. 相似文献
8.
9.
ABSTRACT The genus Tanaostigma is newly recorded from the Afrotropical region and three new species are described: Tanaostigma lasallei van Noort sp. nov. (South Africa), Tanaostigma mulu van Noort sp. nov. (Kenya) and Tanaostigma ukumbusho van Noort sp. nov. (Kenya). We provide comprehensive images of the holotypes and an illustrated identification key to the African species. New country distribution records are provided for Tanaostigmodes tambotis Prinsloo & LaSalle, 1995. All images presented here as well as supplementary images and online keys are available on www.waspweb.org www.zoobank.org/urn:lsid:zoobank.org:pub:61D1A59D-3702-480A-B146-73067C29CD82 相似文献
10.
C M Disteche C I Brannan A Larsen D A Adler D F Schorderet D Gearing N G Copeland N A Jenkins L S Park 《Nature genetics》1992,1(5):333-336
The gene encoding the granulocyte macrophage colony stimulating factor receptor alpha subunit (CSF2RA) has previously been mapped to the pseudoautosomal region of the human sex chromosomes. In contrast, we report that the murine locus, Csf2ra, maps to an autosome in the laboratory mouse. By in situ hybridization and genetic mapping, Csf2ra maps at telomeric band D2 of mouse chromosome 19. This first instance of a pseudoautosomal locus in human being autosomal in mouse, indicates incomplete conservation between the human and mouse X chromosomes and suggests that the genetic content of the pseudoautosomal region may differ between species of eutherian mammals due to chromosomal rearrangements. 相似文献