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141KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)por Yang, Xian, Yamada, Koki, Katz, Bradley, Guan, Hongzai, Wang, Lifei, Andrews, Caroline, Zhao, Guiqiu, Engle, Elizabeth C., Chen, Haoyu, Tong, Zongzhong, Kong, Jie, Hu, Cong, Kong, Qinglan, Fan, Guiyun, Wang, Ze, Ning, Meizhen, Zhang, Shaoyan, Xu, Jinling, Zhang, Kang“…Once a mutation was detected in the proband, all other participating family members and 100 unrelated control normal individuals were screened for the mutation. …”
Publicado 2010
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142“…GPx4 deficiency – in contrast to all other GPx family members – leads to abnormal embryo development and finally produces a lethal phenotype in mice. …”
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143“…Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood samples. …”
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144“…Five of these host species were naturally infected by TEV, all belonging to family Solanaceae, whereas the other three were partially susceptible hosts belonging to three other plant families. …”
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145“…Accumulating evidences indicate that all p53-family proteins function as molecular hubs of a highly interconnected signaling network that coordinates cell proliferation, differentiation and death in response to physiological inputs and oncogenic stress. …”
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146“…Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood samples. …”
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147por Mann, Christopher D., Bastianpillai, Christopher, Neal, Christopher P., Masood, Muhammad M., Jones, Donald J. L., Teichert, Friederike, Singh, Rajinder, Karpova, Elena, Berry, David P., Manson, Margaret M.“…Having previously reported that Notch3 activation appeared to be associated with more aggressive disease, we have now examined components of this pathway (Notch1, Notch3, Notch4, HES-1, HEY-1) in more detail in resectable (n = 42) and non-resectable (n = 50) tumours compared to uninvolved pancreas. All three Notch family members were significantly elevated in tumour tissue, compared to uninvolved pancreas, with expression maintained within matched lymph node metastases. …”
Publicado 2012
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148“…The center of stress was found to be at personal level in all patients; at family level in 73.14%; at professional or work level in 64.81%. …”
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149“…When applied to the primitive erythroid lineage, 144 high scoring transcription factors were found to be differentially expressed between the primitive and adult definitive erythroid lineages, including all expressed STAT-family members. Differential responses of primitive and definitive erythroblasts to a Stat3 inhibitor and IFNγ in vitro supported the results of the computational analysis. …”
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150por Liang, Lu, Shen, Yong-Yi, Pan, Xiao-Wei, Zhou, Tai-Cheng, Yang, Chao, Irwin, David M., Zhang, Ya-Ping“…Given the importance of Hox genes in many aspects of embryonic development, we conducted an analysis of the coding regions of all Hox gene family members from bats (represented by Pteropus vampyrus, Pteropus alecto, Myotis lucifugus and Myotis davidii) and cetaceans (represented by Tursiops truncatus) for adaptive evolution using the available draft genome sequences. …”
Publicado 2013
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151“…The amino acid sequence alignment indicated that the disulfide linkage position is conserved in all IFNα family members. On the basis of sequence homology among interferon alpha family, new potent variants of hIFNα-2b with enhance efficacy can be produced. …”
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152por Kerner, Berit, Rao, Aliz R., Christensen, Bryce, Dandekar, Sugandha, Yourshaw, Michael, Nelson, Stanley F.“…The variants were shared among all three affected family members but absent in the unaffected sibling and in more than 200 controls. …”
Publicado 2013
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153“…In this report, we examined all Kre2 family members and found that the Golgi localizations of two others, Kre2 and Ktr1, were dependent on Svp26 by immunofluorescence microscopy and cell fractionations in sucrose density gradients. …”
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154“…Results: During baseline survey except immunization all other key family practices were poor. After 9 months of intervention of repeated heath education sessions through LHW during their routine visits all practices were improved with statistically significant difference. …”
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155por Zhang, Pingfeng, Leu, Julia I-Ju, Murphy, Maureen E., George, Donna L., Marmorstein, Ronen“…The major stress-induced form, HSP70 (also called HSP72 or HSPA1A) is considered an important anti-cancer drug target because it is constitutively overexpressed in a number of human cancers and promotes cancer cell survival. All HSP70 family members contain two functional domains: an N-terminal nucleotide binding domain (NBD) and a C-terminal protein substrate-binding domain (SBD); the latter is subdivided into SBDα and SBDβ subdomains. …”
Publicado 2014
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156por Shah, Parag P., Lockwood, William W., Saurabh, Kumar, Kurlawala, Zimple, Shannon, Sean P., Waigel, Sabine, Zacharias, Wolfgang, Beverly, Levi J.“…These observations have potential clinical relevance because the UBQLN1 gene is lost and under-expressed in a large percentage of human cancer cell lines and primary human lung cancer samples and recurrent mutations in both all five Ubiquilin family members have been identified in human lung cancers. …”
Publicado 2014
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157por Lewis, Jennifer D., Wilton, Mike, Mott, G . Adam, Lu, Wenwan, Hassan, Jana A., Guttman, David S., Desveaux, Darrell“…Overall, we demonstrate that despite significant evolutionary diversification, all HopZ family members can suppress immunity in Arabidopsis.…”
Publicado 2014
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158por Alic, Alma, Pranjic, Nurka, Selmanovic, Senada, Alibasic, Esad, Alic, Fahrudin, Ramic, Enisa, Spahic-Sarajlic, Selvedina“…CONCLUSION: All respondents in family medicine care in Zenica showed a high percentage of newly detected (17%) patients with previously unrecognized depression. …”
Publicado 2014
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159“…Although there is a highly conserved cysteine residue in the receiver domain of all OmpR family TFs, only three, RpaA (Slr0115), RpaB (Slr0946) and ManR (Slr1837), were identified as putative Trx targets. …”
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160por van Beek, Nina, Patsatsi, Aikaterini, Gupta, Yask, Möller, Steffen, Freitag, Miriam, Lemcke, Susanne, Recke, Andreas, Zillikens, Detlef, Schmidt, Enno, Ibrahim, Saleh“…Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5) were identified. …”
Publicado 2015
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