Polymorphisms in the promoter region are likely to impact KISS1 gene transcription and reproductive traits. In this study, Guanzhong (GZ, n=350) and Boer (BE, n=196) goats were used to detect ...polymorphism in the promoter of the goat KISS1 gene by DNA sequencing. In the GZ goats, the g.1384G>A mutation was identified in the promoter of the goat KISS1 gene. Guanzhong goats were in Hardy–Weinberg disequilibrium at g.1384G>A locus (P<0.05). The 1384A allele was predicted to eliminate methylation, AHR-arnt heterodimers and AHR-related factors (AHRR) and myoblast determining factors (MYOD) transcription factor-binding sites. Statistical results indicated that the g.1384G>A SNP was associated with litter size in the GZ goats (P<0.05). Luciferase assay analysis suggested that the 1384A allele increased luciferase activity when compared to the 1384G allele. The RT-qPCR assay also demonstrated that the 1384A allele had greater amounts of KISS1 mRNA than the 1384G allele in homozygous individuals. Functional analysis suggested that this g.1384G>A SNP may be an important genetic regulator of KISS1 gene expression with effects on downstream processes that are modulated by KISS1 gene because of the changes of methylation and transcription factor-binding sites. Therefore, the current study provides evidence in goats for genetic markers that might be used in breeding programs.
Body center cubic iron materials are commonly used in nuclear power plants. In bcc-iron, symmetric tilt grain boundaries (STGBs), which are believed to play important roles on self-healing, are ...susceptible to configuration and structural change under irradiation. The effect of such changes on mechanical properties of such GBs is still unknown. In this work, using molecular dynamics simulations, we find that the critical shear stress τc required for Σ5 STGB migration is greatly reduced by either displacement cascade nearby or absorption of defect clusters. Moreover, we find that the trapping of radiation-induced interstitial-type dislocation loops could also decrease τc, indicating that displacement cascades could also exert a long-range effect on GBs due to the fast diffusion of interstitial clusters.
In this phase 2 open-label randomized study, 31 patients with intermediate-2 or high-risk myelofibrosis received fedratinib 300, 400 or 500 mg once daily in consecutive 4-week cycles. Mean spleen ...volume reductions at 12 weeks (primary end point) were 30.3% (300 mg), 33.1% (400 mg) and 43.3% (500 mg). Spleen response rates (patients achieving ⩾35% spleen reduction) at 12/24 weeks were 30%/30% (300 mg), 50%/60% (400 mg) and 64%/55% (500 mg), respectively. By 4 weeks, improvements in myelofibrosis (MF)-associated symptoms were observed. At 48 weeks, 68% of patients remained on fedratinib and 16% had discontinued because of adverse events (AEs). Common grade 3/4 AEs were anemia (58%), fatigue (13%), diarrhea (13%), vomiting (10%) and nausea (6%). Serious AEs included one case of reversible hepatic failure and one case of Wernicke's encephalopathy (after analysis cutoff). Fedratinib treatment led to reduced STAT3 phosphorylation but no meaningful change in JAK2V617F allele burden. Significant modulation (P<0.05, adjusted for multiple comparisons) of 28 cytokines was observed, many of which correlated with spleen reduction. These data confirm the clinical activity of fedratinib in MF. After the analysis cutoff date, additional reports of Wernicke's encephalopathy in other fedratinib trials led to discontinuation of the sponsored clinical development program.
Summary
Lymphoedema–distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be ...associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The novel mutation is not a common polymorphism, but is co‐inherited with the disease.
ABSTRACT
We report on the Insight-HXMT observations of the new black hole X-ray binary MAXI J1820+070 during its 2018 outburst. Detailed spectral analysis via the continuum fitting method shows an ...evolution of the inferred spin during its high soft sate. Moreover, the hardness ratio, the non-thermal luminosity and the reflection fraction also undergo an evolution, exactly coincident to the period when the inferred spin transition takes place. The unphysical evolution of the spin is attributed to the evolution of the inner disc, which is caused by the collapse of a hot corona due to condensation mechanism or may be related to the deceleration of a jet-like corona. The studies of the inner disc radius and the relation between the disc luminosity and the inner disc radius suggest that, only at a particular epoch, did the inner edge of the disc reach the innermost stable circular orbit and the spin measurement is reliable. We then constrain the spin of MAXI J1820 + 070 to be $a_*=0.2^{+0.2}_{-0.3}$. Such a slowly spinning black hole possessing a strong jet suggests that its jet activity is driven mainly by the accretion disc rather than by the black hole spin.
Multiferroic tunneling junction based four-state non-volatile memories are very promising for future memory industry since this kind of memories hold the advantages of not only the higher density by ...scaling down memory cell but also the function of magnetically written and electrically reading. In this work, we demonstrate a success of this four-state memory in a material system of NiFe/BaTiO3/La0.7Sr0.3MnO3 with improved memory characteristics such as lower switching field and larger tunneling magnetoresistance (TMR). Ferroelectric switching induced resistive change memory with OFF/ON ratio of 16 and 0.3% TMR effect have been achieved in this multiferroic tunneling structure.
To analyze the three-dimensional radiographic characteristics of maxillary radi-cular cysts using cone-beam computed tomography (CBCT) and spiral CT.
Clinical records, histopathological reports, and ...CBCT or non-enhanced spiral CT images of 67 consecutive patients with maxillary radicular cysts were retrospectively acquired, and radiographic features, including size, shape, expansion, internal structure and relationship with the surrounding tissues, were analyzed. The lesions were divided into three types according to the involved tooth number, as follows: type Ⅰ (single tooth), the epicenter of the cyst was located at the apex of a nonvital tooth, without involvement of the neighbo-ring tooth; type Ⅱ (adjacent tooth involvement), the cyst was located at the apex of a nonvital tooth with involvement of the mesial and/or distal tooth root; and type Ⅲ (multi-teeth), the cyst involved the apexes of ≥4 teeth. Besides, these cysts were classified as another three types on sagittal views, as follows: centripetal, th
Summary
In this study, Xinong Saanen (SN) and Guanzhong (GZ) dairy goat breeds were used to detect single nucleotide polymorphisms (SNPs) in the 5′‐flanking region of the KITLG gene by DNA sequencing ...and primer‐introduced restriction analysis–polymerase chain reaction. Two novel SNPs (g.13090G>T and g.13664C>A) were identified (GenBank Accession no. KM658964). Furthermore, g.13090G>T and g.13664C>A loci were closely linked in SN and GZ breeds (r2 > 0.33). Association analysis results showed that g.13090G>T and g.13664C>A SNPs significantly affected litter size (P < 0.05). The litter size of individuals with the combined genotype GG/CC from both dairy goat breeds was greater than that of individuals with TT/AA in average parity (P < 0.05). Known biochemical and physiological functions, along with our results, indicated that GG/CC could be used in marker‐assisted selection to choose individuals with greater litter size from both breeds. These results extend the spectrum of genetic variation in the caprine KITLG gene and may contribute to genetic resources and breeding of goats.
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