排序方式: 共有24条查询结果,搜索用时 296 毫秒
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RK Koenekoop H Wang J Majewski X Wang I Lopez H Ren Y Chen Y Li GA Fishman M Genead J Schwartzentruber N Solanki EI Traboulsi J Cheng CV Logan M McKibbin BE Hayward DA Parry CA Johnson M Nageeb;Finding of Rare Disease Genes 《Nature genetics》2012,44(9):1035-1039
Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder. 相似文献
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Riassunto Il bivalente lampbrush I diTriturus marmoratus è costituito da 2 cromosomi partner di diversa lunghezza a presenta loops eteromorfi lungo una regione sempre sprovvista di chiasmi. Si può quindi ritenere che tale bivalente sia costituito dagli eterocromosomi Z e W.
With financial support by C.N.R., Rome. 相似文献
With financial support by C.N.R., Rome. 相似文献
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E. Martino M. Nardi G. Vaudagna S. Simonetti A. Cilotti A. Pinchera 《Cellular and molecular life sciences : CMLS》1980,36(5):622-623
Summary The thyrotropin-releasing hormone (TRH) has been found in porcine and in bovine retina, and it is indistinguishable from synthetic TRH in its immunological and biological properties. The role of retinal TRH is unknown, it probably acts as a neurotransmitter. 相似文献
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G. Mancino Irma Nardi Matilde Ragghianti 《Cellular and molecular life sciences : CMLS》1972,28(10):856-860
Riassunto Sono stati studiati i «lampbrush chromosomes» di mutanti semi-albini diTriturus cristatus carnifex. Il rilevamento degli organizzatori nucleolari ha permesso il completamento delle mappe cromosomiche della specie.
This work was financially supported by C.N.R., Rome. 相似文献
This work was financially supported by C.N.R., Rome. 相似文献
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Riassunto L'insaponificabile del muscolo diSpirographis spallanzani contiene accanto a steroli e tocoferolo, un composto di natura chinonica avente molte proprietà in comune con gli ubichinoni. Anche il tocoferilchinone è stato identificato negli estratti. Si ritiene però che esso si formi dal tocoferolo durante il procedimento di estrazione.
This work has been partially supported by a U.S. Public Health Service Grant (R.G. 4845). The authors gratefully acknowledge suggestions and criticisms from Dr.Hemming and Dr.Pennock, Biochemistry Department, Liverpool. 相似文献
This work has been partially supported by a U.S. Public Health Service Grant (R.G. 4845). The authors gratefully acknowledge suggestions and criticisms from Dr.Hemming and Dr.Pennock, Biochemistry Department, Liverpool. 相似文献
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Irma Nardi Matilde Ragghianti G. Mancino 《Cellular and molecular life sciences : CMLS》1972,28(5):591-592
Riassunto E' stata descritta la diversa morfologia dei cromosomi mitotici diTriturus alpestris apuanus, studiati in blastomeri e in cellule somatiche di individui adulti.
With financial support by C.N.R., Rome. 相似文献
With financial support by C.N.R., Rome. 相似文献