Complete fusion excitation functions for 11,10 B+ 159 Tb have been measured at energies around the respective Coulomb barriers, and the existing complete fusion measurements for 7 Li+ 159 Tb have been extended to higher energies. The measurements show significant reduction of complete fusion cross sections at above-barrier energies for both the reactions, 10 B+ 159 Tb and 7 Li+ 159 Tb, when compared to those for 11 B+ 159 Tb. The comparison shows that the extent of suppression of complete fusion cross sections is correlated with the α-separation energies of the projectiles. Also, the two reactions, 10 B+ 159 Tb and 7 Li+ 159 Tb were found to produce incomplete fusion products at energies near the respective Coulomb barriers, with the α-particle emitting channel being the favoured incomplete fusion process in both the cases.PACS number(s): 24.10. Eq, 25.70.Jj, 25.70.Pj, 25.70.Mn, 27.70.+q

Background & Aims A common genetic variant near MBOAT7 (rs641738C>T) has been previously associated with hepatic fat and advanced histology in NAFLD; however, these findings have not been consistently replicated in the literature. We aimed to establish whether rs641738C>T is a risk factor across the spectrum of NAFLD and to characterise its role in the regulation of related metabolic phenotypes through a meta-analysis. Methods We performed a meta-analysis of studies with data on the association between rs641738C>T genotype and liver fat, NAFLD histology, and serum alanine aminotransferase (ALT), lipids or insulin. These included directly genotyped studies and population-level data from genome-wide association studies (GWAS). We performed a random effects meta-analysis using recessive, additive and dominant genetic models. Results Data from 1,066,175 participants (9,688 with liver biopsies) across 42 studies were included in the meta-analysis. rs641738C>T was associated with higher liver fat on CT/MRI (+0.03 standard deviations [95% CI 0.02–0.05], p z = 4.8×10 –5 ) and diagnosis of NAFLD (odds ratio [OR] 1.17 [95% CI 1.05–1.3], p z = 0.003) in Caucasian adults. The variant was also positively associated with presence of advanced fibrosis (OR 1.22 [95% CI 1.03–1.45], p z = 0.021) in Caucasian adults using a recessive model of inheritance (CC + CT vs. TT). Meta-analysis of data from previous GWAS found the variant to be associated with higher ALT ( p z = 0.002) and lower serum triglycerides ( p z = 1.5×10 –4 ). rs641738C>T was not associated with fasting insulin and no effect was observed in children with NAFLD. Conclusions Our study validates rs641738C>T near MBOAT7 as a risk factor for the presence and severity of NAFLD in individuals of European descent. Lay summary Fatty liver disease is a common condition where fat builds up in the liver, which can cause liver inflammation and scarring (including ‘cirrhosis’). It is closely linked to obesity and diabetes, but some genes are also thought to be important. We did this study to see whether one specific change (‘variant’) in one gene ( ‘MBOAT7’ ) was linked to fatty liver disease. We took data from over 40 published studies and found that this variant near MBOAT7 is linked to more severe fatty liver disease. This means that drugs designed to work on MBOAT7 could be useful for treating fatty liver disease.

The Krü ppel-like factors (KLFs) are a family of C2/H2 zinc finger DNA-binding proteins that are important in controlling developmental programs. Erythroid Krü ppel-like factor (EKLF or KLF1) positively regulates the ␤-globin gene in definitive erythroid cells. KLF2 (LKLF) is closely related to EKLF and is expressed in erythroid cells. KLF2 ؊/؊ mice die between embryonic day 12.5 (E12.5) and E14.5, because of severe intraembryonic hemorrhaging. They also display growth retardation and anemia. We investigated the expression of the ␤-like globin genes in KLF2 knockout mice. Our results show that KLF2 ؊/؊ mice have a significant reduction of murine embryonic Ey-and ␤h1-globin but not -globin gene expression in the E10.5 yolk sac, compared with wild-type mice. The expression of the adult ␤ maj -and ␤ min -globin genes is unaffected in the fetal livers of E12.5 embryos. In mice carrying the entire human globin locus, KLF2 also regulates the expression of the human embryonic ⑀-globin gene but not the adult ␤-globin gene, suggesting that this developmentalstage-specific role is evolutionarily conserved. KLF2 also plays a role in the maturation and/or stability of erythroid cells in the yolk sac. KLF2 ؊ IntroductionHematopoiesis represents a complex differentiation pathway involving many transcription factors and growth factors that interact in a concerted fashion during mammalian development. 1 Transcription factors often exist as multigene families of structurally and functionally related members that are involved in the different stages of development of a particular cell lineage. For example, members of the GATA family of transcription factors are involved in both primitive and definitive erythropoiesis. 2-4 Different phenotypic features seen after ablation of either the GATA1 or the GATA2 gene in mice clearly demonstrate that these factors have different but overlapping functions. The Krüppel-like factors (KLFs) are a family of DNA-binding proteins named after the Drosophila Krüppel protein. KLFs have 3 C2/H2 zinc finger domains and share conserved residues located primarily within these zinc fingers. 5,6 Several of the KLFs are expressed in erythroid cells starting early in development. Erythroid Krüppel-like factor (EKLF or KLF1) was the first of 16 KLFs to be identified. EKLF Ϫ/Ϫ mice develop fatal anemia during fetal liver erythropoiesis. 7,8 EKLF is responsible for positively regulating the adult ␤-globin gene, but it is not required for embryonic/fetal globin gene expression. [9][10][11] Other KLF family members may be involved in the developmental control of the embryonic and fetal globin genes. A few of the KLFs, namely KLF2 and KLF5, 12 and KLF11 and KLF13,13,14 have been shown to activate the fetal ␥-globin gene in transient transfection assays in human erythroleukemia cell lines. So far none of these studies have been replicated in vivo. In a recent study, KLF11 (fetal Krüppel like factor, FKLF1)-null mice were found to be fertile, with normal hematopoiesis at all stages of development. There was no effe...

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To identify various subtypes of spinocerebellar ataxias (SCAs) among 57 unrelated individuals clinically diagnosed as ataxia patients we analysed the SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci for expansion of CAG repeats. We detected CAG repeat expansion in 6 patients (10.5%) at the SCA1 locus. Ten of the 57 patients (17.5%) had CAG repeat expansion at the SCA2 locus, while four had CAG expansion at the SCA3/MJD locus (7%). At the SCA6 locus there was a single patient (1.8%) with 21 CAG repeats. We have not detected any patient with expansion in the SCA7 and DRPLA loci. To test whether the frequencies of the large normal alleles in SCA1, SCA2 and SCA6 loci can reflect some light on prevalence of the subtypes of SCAs we studied the CAG repeat variation in these loci in nine ethnic sub-populations of eastern India from which the patients originated. We report here that the frequency of large normal alleles (>31 CAG repeats) in SCA1 locus to be 0.211 of 394 chromosomes studied. We also report that the frequency of large normal alleles (>22 CAG repeats) at the SCA2 locus is 0.038 while at the SCA6 locus frequency of large normal alleles (>13 repeats) is 0.032. We discussed our data in light of the distribution of normal alleles and prevalence of SCAs in the Japanese and white populations.

Complete and incomplete fusion cross sections for 6 Li + 159 Tb have been measured at energies around the Coulomb barrier by the γ -ray method. The measurements show that the complete fusion cross sections at above-barrier energies are suppressed by ∼34% compared to coupled-channel calculations. A comparison of the complete fusion cross sections at above-barrier energies with the existing data for 11,10 B + 159 Tb and 7 Li + 159 Tb shows that the extent of suppression is correlated with the α separation energies of the projectiles. It has been argued that the Dy isotopes produced in the reaction 6 Li + 159 Tb at below-barrier energies are primarily due to the d transfer to unbound states of 159 Tb, while both transfer and incomplete fusion processes contribute at above-barrier energies.

The Krü ppel-like C2/H2 zinc finger transcription factors (KLFs) control development and differentiation. Erythroid Krü ppel-like factor (EKLF or KLF1) regulates adult ␤-globin gene expression and is necessary for normal definitive erythropoiesis. KLF2 is required for normal embryonic Ey-and ␤h1-, but not adult ␤-globin, gene expression in mice. Both EKLF and KLF2 play roles in primitive erythroid cell development. To investigate potential interactions between these genes, EKLF/KLF2 double-mutant embryos were analyzed. EKLF ؊/؊ KLF2 ؊/؊ mice appear anemic at embryonic day 10.5 (E10.5) and die before E11.5, whereas single-knockout EKLF ؊/؊ or KLF2 ؊/؊ embryos are grossly normal at E10.5 and die later than EKLF ؊/؊ KLF2 ؊/؊ embryos. At E10.5, Ey-and ␤h1-globin mRNA is greatly reduced in EKLF ؊/؊ KLF2 ؊/؊ , compared with EKLF ؊/؊ or KLF2 ؊/؊ embryos, consistent with the observed anemia. Light and electron microscopic analyses of E9.5 EKLF ؊/؊ KLF2 ؊/؊ yolk sacs, and cytospins, indicate that erythroid and endothelial cells are morphologically more abnormal than in either single knockout. EKLF IntroductionKrüppel-Like factors (KLFs) are a family of DNA-binding proteins with sequence homology to the Drosophila transcription factor, Krüppel. KLFs have 3 C2/H2 zinc finger domains and share conserved residues located primarily within these domains. 1,2 Erythroid Krüppel-Like factor (EKLF or KLF1) was the first of 17 KLFs to be identified in mouse and man. 3 It is expressed specifically in erythroid cells and positively regulates the adult ␤-globin gene. 3,4 EKLF Ϫ/Ϫ mice develop fatal anemia during definitive (fetal liver) erythropoiesis, due to a defect in the maturation of red blood cells, and die by embryonic day 16 (E16). [5][6][7] Several other members of the KLF family, including KLF2 (lung Krüppel-like factor, LKLF), also are expressed in erythroid cells. [8][9][10][11] Based on phylogenetic analyses, the zinc finger domains of KLF2 and EKLF are very similar. 1,2,12,13 KLF2 Ϫ/Ϫ mice die between E12.5 and E14.5 due to heart failure and severe hemorrhaging, caused by defects in vascular endothelial cells and in stabilization of immature vessels by recruited smooth muscle cells. 14,15 Prior to E12.5, KLF2 Ϫ/Ϫ embryos have normal vasculogenesis and angiogenesis. 14,15 KLF2 also plays an important role in hematopoietic cell biology. We reported that KLF2 is essential for primitive (embryonic yolk sac) erythropoiesis and positively regulates the embryonic ␤-like globin genes in vivo. E10.5 KLF2 Ϫ/Ϫ primitive erythroid cells have abnormal morphology. 9 KLF2 also regulates T-cell activation. Deficiency of KLF2 leads to a decrease in the peripheral T-cell pool 16 due to defective thymocyte emigration. 17 Overexpression of KLF2 in mice inhibits proinflammatory activation of peripheral blood monocytes. 18 It was initially reported that EKLF does not affect embryonic/ fetal globin gene expression. Interestingly, however, EKLF is expressed very early in mouse and chicken development, as early as the primitive streak stage, fo...