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91.
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 总被引:3,自引:0,他引:3
92.
M. Rguez-Mariscal A. S. Del Barrio J. Larralde J. A. Martínez 《Cellular and molecular life sciences : CMLS》1993,49(4):308-312
The administration of metaproterenol induced an increase in gastrocnemius muscle weight without change in body growth rate or tissue protein concentrations, while epididymal fat was reduced. This effect was accompanied by an enhancement in the levels of intracellular amino acids in muscle. By contrast, liver amino acids were unaffected by treatment with the mixed -adrenergic agonist. 相似文献
93.
Fine-mapping of an ancestral recombination breakpoint in DCP1. 总被引:8,自引:0,他引:8
94.
Experimental evidence conclusively indicates that the epididymis is under endocrine control and plays an active role in the process of spermatic maturation. 相似文献
95.
Deficient pheromone responses in mice lacking a cluster of vomeronasal receptor genes 总被引:24,自引:0,他引:24
Del Punta K Leinders-Zufall T Rodriguez I Jukam D Wysocki CJ Ogawa S Zufall F Mombaerts P 《Nature》2002,419(6902):70-74
The mammalian vomeronasal organ (VNO), a part of the olfactory system, detects pheromones--chemical signals that modulate social and reproductive behaviours. But the molecular receptors in the VNO that detect these chemosensory stimuli remain undefined. Candidate pheromone receptors are encoded by two distinct and complex superfamilies of genes, V1r and V2r (refs 3 and 4), which code for receptors with seven transmembrane domains. These genes are selectively expressed in sensory neurons of the VNO. However, there is at present no functional evidence for a role of these genes in pheromone responses. Here, using chromosome engineering technology, we delete in the germ line of mice an approximately 600-kilobase genomic region that contains a cluster of 16 intact V1r genes. These genes comprise two of the 12 described V1r gene families, and represent approximately 12% of the V1r repertoire. The mutant mice display deficits in a subset of VNO-dependent behaviours: the expression of male sexual behaviour and maternal aggression is substantially altered. Electrophysiologically, the epithelium of the VNO of such mice does not respond detectably to specific pheromonal ligands. The behavioural impairment and chemosensory deficit support a role of V1r receptors as pheromone receptors. 相似文献
96.
Yamada K Andrews C Chan WM McKeown CA Magli A de Berardinis T Loewenstein A Lazar M O'Keefe M Letson R London A Ruttum M Matsumoto N Saito N Morris L Del Monte M Johnson RH Uyama E Houtman WA de Vries B Carlow TJ Hart BL Krawiecki N Shoffner J Vogel MC Katowitz J Goldstein SM Levin AV Sener EC Ozturk BT Akarsu AN Brodsky MC Hanisch F Cruse RP Zubcov AA Robb RM Roggenkäemper P Gottlob I Kowal L Battu R Traboulsi EI Franceschini P Newlin A Demer JL Engle EC 《Nature genetics》2003,35(4):318-321
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis. 相似文献
97.
98.
G. G. Tedeschi G. Sprovieri Paola Del Prete 《Cellular and molecular life sciences : CMLS》1978,34(5):596-598
Summary The evolution of cocci and diphtheroids taking origin from cell-wall-deficient forms seems not to be related to a particular state of illness, but to be the consequence of a generalized crypto-infection. 相似文献