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11.
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy 总被引:3,自引:0,他引:3
Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM 《Human molecular genetics》1998,7(7):1179-1184
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to
within an 8 cM interval on chromosome 17p12-p13. The retinal- specific
guanylate cyclase gene (RETGC-1), which maps to within this genetic
interval and previously was implicated in Leber's congenital amaurosis, was
screened for mutations within this family and in a panel of small families
and individuals with various cone and cone- rod dystrophy phenotypes. A
missense mutation (E837D) was identified in affected members of the CORD6
family, as well as a second missense mutation (R838C) in three other
families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene
to be implicated in cone-rod dystrophy and this is the first report of
dominant mutations in this gene.
相似文献
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R E Martin G P Sackett V M Gunderson B L Goodlin-Jones 《Developmental psychobiology》1988,21(3):251-260
Heart rate (HR) responses evoked by 1 sec of 85-dB white noise were studied in 12 1-year-old pigtailed macaques, 6 of which were raised in social isolation and 6 with mothers and peers. Tests were given for 5 days, with 25 trials each day. Although baseline HR did not differ between groups, the pattern of change from baseline was not the same. Isolates showed only HR acceleration, returning to baseline within 10-11 sec of stimulus onset. Socially reared monkeys had a 10- to 11-sec biphasic response of acceleration followed by deceleration, with subsequent return to baseline. The same group difference in HR pattern occurred when subjects were tested with a less intense 65-dB stimulus. These findings were discussed in terms of activity, emotionality, and autonomic regulatory functions. It was concluded that early rearing experiences may affect later physiological processes involving autonomic nervous system balance. This conclusion was related to observations of persistent individual differences in HR by human children classified as inhibited. 相似文献
15.
Primary and revision total knee arthroplasty have become common orthopaedic procedures. The operating surgeon, at times, may be faced with a difficult surgical case due to soft tissue contractures or bone deformities. A review of multiple surgical techniques using soft tissue releases and osteotomies are presented including their potential complications. Although these techniques are aimed at the atypical operative case, the operating surgeon may utilize them for ‘routine’ exposures as well. Importance is focused on the functional integrity of the knee extensor mechanism. 相似文献
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Singh DK Griffin DM Pacyniak E Jackson M Werle MJ Wisdom B Sun F Hout DR Pinson DM Gunderson RS Powers MF Wong SW Stephens EB 《Virology》2003,313(2):435-451
The simian-human immunodeficiency virus (SHIV)/ macaque model for human immunodeficiency virus type 1 has become a useful tool to assess the role of Vpu in lentivirus pathogenesis. In this report, we have mutated the two phosphorylated serine residues of the HIV-1 Vpu to glycine residues and have reconstructed a SHIV expressing this nonphosphorylated Vpu (SHIV(S52,56G)). Expression studies revealed that this protein was localized to the same intracellular compartment as wild-type Vpu. To determine if this virus was pathogenic, four pig-tailed macaques were inoculated with SHIV(S52,56G) and virus burdens and circulating CD4(+) T cells monitored up to 1 year. Our results indicate that SHIV(S52,56G) caused rapid loss in the circulating CD4(+) T cells within 3 weeks of inoculation in one macaque (CC8X), while the other three macaques developed no or gradual numbers of CD4(+) T cells and a wasting syndrome. Histological examination of tissues revealed that macaque CC8X had lesions in lymphoid tissues (spleen, lymph nodes, and thymus) that were typical for macaques inoculated with pathogenic parental SHIV(KU-1bMC33) and had no lesions within the CNS. To rule out that macaque CC8X had selected for a virus in which there was reversion of the glycine residues at positions 52 and 56 to serine residues and/or compensating mutations occurred in other genes associated with CD4 down-regulation, sequence analysis was performed on amplified vpu sequences isolated from PBMC and from several lymphoid tissues at necropsy. Sequence analysis revealed a reversion of the glycine residues back to serine residues in this macaque. The other macaques maintained low virus burdens, with one macaque (P003) developing a wasting syndrome between months 9 and 11. Histological examination of tissues from this macaque revealed a thymus with severe atrophy that was similar to that of a previously reported macaque inoculated with a SHIV lacking vpu (Virology 293, 2002, 252). Sequence analysis revealed no reversion of the glycine residues in the vpu sequences isolated from this macaque. These results contrast with those from four macaques inoculated with the parental pathogenic SHIV(KU-1bMC33), all of which developed severe CD4(+) T cell loss within 1 month after inoculation. Taken together, these results indicate that casein kinase II phosphorylation sites of Vpu contributes to the pathogenicity of the SHIV(KU-1bMC33) and suggest that the SHIV(KU-1bMC33)/pig-tailed macaque model will be useful in analyzing amino acids/domains of Vpu that contribute to the pathogenesis of HIV-1. 相似文献
18.
Extrapelvic colon--areas of failure in a reoperation series: implications for adjuvant therapy 总被引:5,自引:0,他引:5
L L Gunderson H Sosin S Levitt 《International journal of radiation oncology, biology, physics》1985,11(4):731-741
A total of 230 patients had planned single or multiple reoperative procedures following "curative" resection of colorectal cancer at the University of Minnesota. The site of the primary lesion was extrapelvic in 91, and later evidence of cancer was found in 58 patients (64%) at re-operation and/or other follow-up. Eight of the 58 (14%) were converted to disease-free status. Incidence and patterns of failure were correlated with initial operative-pathologic extent of disease (87 of the 91 at risk had initial tumor extension beyond the bowel wall, involved nodes or both) and comparisons were made with the previously analyzed rectal reoperation patients. While a component of local-regional failure was more common with rectal lesions (48/74 at risk, 65%), it was not uncommon with extrapelvic primaries (44/91-48%). The incidence of hematogenous metastasis (DM) was equal, but the pattern of initial DM differed (extrapelvic colon--primarily liver; rectum--liver and lung). Peritoneal seeding was a more common component of failure with the extrapelvic primaries (19/91--21% vs 3/74-4%). Since surgery alone is inadequate treatment for many patients with colon as well as rectal cancer, the rationale of adjuvant radiation and systemic therapy, alone or in combination, is discussed. 相似文献
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为探讨体外循环(CPB)导致心脏植物神经系统(CAS)损伤的机理,了解温血心停跳液能否防止CPB后心率变异性(HRV)的降低,采用对照方法观察了温血心停跳液与冷晶体心停跳液对狗HRV的影响。结果显示:CPB后温血心停跳液组(WB组)和冷晶体心停跳液组(CC组)的全频谱(TP)、低频(LF)和高频(HF)均较术前明显降低(P<0.05),而且CC组比WB组降低更明显(P<0.05),但LF/HF在组内及组间均无明显变化(P>0.05)。CPB后24小时平均心率(MHR)明显增加(P<0.05),且CC组高于WB组(P<0.05)。本研究表明:采用温血心停跳液或冷晶体心停跳液的CPB不会干扰CAS平衡,但均能使HRV降低,温血心停跳液不能防止HRV损害。 相似文献