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961.
Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time
962.
963.
Anne Slavotinek Julie Kaylor Heather Pierce Michelle Cahr Stephanie?J. DeWard Dina Schneidman-Duhovny Adnan Alsadah Fadi Salem Gabriela Schmajuk Lakshmi Mehta 《American journal of human genetics》2015,96(1):162-169
We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected. 相似文献
964.
Anmol Kumar Jaakko Kopra K?rt Varendi Lauriina L. Porokuokka Anne Panhelainen Satu Kuure Pepin Marshall Nina Karalija Mari-Anne H?rma Carolina Vilenius Kersti Lillev?li Triin Tekko Jelena Mijatovic Nita Pulkkinen Madis Jakobson Maili Jakobson Roxana Ola Erik Palm Maria Lindahl Ingrid Str?mberg Vootele V?ikar T. Petteri Piepponen Mart Saarma Jaan-Olle Andressoo 《PLoS genetics》2016,12(1)
965.
Fran?ois Redelsperger Najat Raddi Agathe Bacquin Cécile Vernochet Virginie Mariot Vincent Gache Nicolas Blanchard-Gutton Stéphanie Charrin Laurent Tiret Julie Dumonceaux Anne Dupressoir Thierry Heidmann 《PLoS genetics》2016,12(9)
Syncytins are envelope genes from endogenous retroviruses, “captured” for a role in placentation. They mediate cell-cell fusion, resulting in the formation of a syncytium (the syncytiotrophoblast) at the fetomaternal interface. These genes have been found in all placental mammals in which they have been searched for. Cell-cell fusion is also pivotal for muscle fiber formation and repair, where the myotubes are formed from the fusion of mononucleated myoblasts into large multinucleated structures. Here we show, taking advantage of mice knocked out for syncytins, that these captured genes contribute to myoblast fusion, with a >20% reduction in muscle mass, mean muscle fiber area and number of nuclei per fiber in knocked out mice for one of the two murine syncytin genes. Remarkably, this reduction is only observed in males, which subsequently show muscle quantitative traits more similar to those of females. In addition, we show that syncytins also contribute to muscle repair after cardiotoxin-induced injury, with again a male-specific effect on the rate and extent of regeneration. Finally, ex vivo experiments carried out on murine myoblasts demonstrate the direct involvement of syncytins in fusion, with a >40% reduction in fusion index upon addition of siRNA against both syncytins. Importantly, similar effects are observed with primary myoblasts from sheep, dog and human, with a 20–40% reduction upon addition of siRNA against the corresponding syncytins. Altogether, these results show a direct contribution of the fusogenic syncytins to myogenesis, with a demonstrated male-dependence of the effect in mice, suggesting that these captured genes could be responsible for the muscle sexual dimorphism observed in placental mammals. 相似文献
966.
Engineering high α‐amylase levels in wheat grain lowers Falling Number but improves baking properties 下载免费PDF全文
Jean‐Philippe Ral Alex Whan Oscar Larroque Emmett Leyne Jeni Pritchard Anne‐Sophie Dielen Crispin A. Howitt Matthew K. Morell Marcus Newberry 《Plant biotechnology journal》2016,14(1):364-376
Late maturity α‐amylase (LMA) and preharvest sprouting (PHS) are genetic defects in wheat. They are both characterized by the expression of specific isoforms of α‐amylase in particular genotypes in the grain prior to harvest. The enhanced expression of α‐amylase in both LMA and PHS results in a reduction in Falling Number (FN), a test of gel viscosity, and subsequent downgrading of the grain, along with a reduced price for growers. The FN test is unable to distinguish between LMA and PHS; thus, both defects are treated similarly when grain is traded. However, in PHS‐affected grains, proteases and other degradative process are activated, and this has been shown to have a negative impact on end product quality. No studies have been conducted to determine whether LMA is detrimental to end product quality. This work demonstrated that wheat in which an isoform α‐amylase (TaAmy3) was overexpressed in the endosperm of developing grain to levels of up to 100‐fold higher than the wild‐type resulted in low FN similar to those seen in LMA‐ or PHS‐affected grains. This increase had no detrimental effect on starch structure, flour composition and enhanced baking quality, in small‐scale 10‐g baking tests. In these small‐scale tests, overexpression of TaAmy3 led to increased loaf volume and Maillard‐related browning to levels higher than those in control flours when baking improver was added. These findings raise questions as to the validity of the assumption that (i) LMA is detrimental to end product quality and (ii) a low FN is always indicative of a reduction in quality. This work suggests the need for a better understanding of the impact of elevated expression of specific α‐amylase on end product quality. 相似文献
967.
Summary The effects of CO2 enrichment on the growth, biomass partitioning, photosynthetic rates, and leaf nitrogen concentration of a grass, Bromus mollis (C3), were investigated at a favorable and a low level of nitrogen availability. Despite increases in root: shoot ratios, leaf nitrogen concentrations were decreased under CO2 enrichment at both nitrogen levels. For the low-nitrogen treatment, this resulted in lower photosynthetic rates measured at 650 l/l for the CO2-enriched plants, compared to photosynthetic rates measured at 350 l/l for the non-enriched plants. At higher nitrogen availability, photosynthetic rates of plants grown and measured at 650 l/l were greater than photosynthetic rates of the non-enriched plants measured at 350 l/l. Water use efficiency, however, was increased in enriched plants at both nitrogen levels. CO2 enrichment stimulated vegetative growth at both high and low nitrogen during most of the vegetative growth phase but, at the end of the experiment, total biomass of the high and low CO2 treatments did not differ for plants grown at low nitrogen availability. While not statistically significant, CO2 tended to stimulate seed production at high nitrogen and to decrease it at low nitrogen. 相似文献
968.
969.
Diane S. Herson Balkumar Marthi Mary Anne Payer Dr. Katherine H. Baker 《Current microbiology》1986,13(2):77-80
Direct microscopic enumeration ofEnterobacter cloacae with the acridine orange 2-(p-iodophenyl)-3-(p-nitrophenyl)-5-phenyl tetrazolium chloride technique (AOINT) was compared with spread plate counts on nonselective media to establish the usefulness of the former technique in the enumeration of chlorine-stressed cells. Results indicate that the techniques are comparable when the organisms are not stressed. However, AOINT is more sensitive than are plate counts in the detection of chlorine-stressed cells. 相似文献
970.
Diversification of sterol methyltransferase enzymes in plants and a role for β‐sitosterol in oriented cell plate formation and polarized growth 下载免费PDF全文
Masatoshi Nakamoto Anne‐Catherine Schmit Dimitri Heintz Hubert Schaller Daisaku Ohta 《The Plant journal : for cell and molecular biology》2015,84(5):860-874
Phytosterols are classified into C24‐ethylsterols and C24‐methylsterols according to the different C24‐alkylation levels conferred by two types of sterol methyltransferases (SMTs). The first type of SMT (SMT1) is widely conserved, whereas the second type (SMT2) has diverged in charophytes and land plants. The Arabidopsis smt2 smt3 mutant is defective in the SMT2 step, leading to deficiency in C24‐ethylsterols while the C24‐methylsterol pathway is unchanged. smt2 smt3 plants exhibit severe dwarfism and abnormal development throughout their life cycle, with irregular cell division followed by collapsed cell files. Preprophase bands are occasionally formed in perpendicular directions in adjacent cells, and abnormal phragmoplasts with mislocalized KNOLLE syntaxin and tubulin are observed. Defects in auxin‐dependent processes are exemplified by mislocalizations of the PIN2 auxin efflux carrier due to disrupted cell division and failure to distribute PIN2 asymmetrically after cytokinesis. Although endocytosis of PIN2–GFP from the plasma membrane (PM) is apparently unaffected in smt2 smt3, strong inhibition of the endocytic recycling is associated with a remarkable reduction in the level of PIN2–GFP on the PM. Aberrant localization of the cytoplasmic linker associated protein (CLASP) and microtubules is implicated in the disrupted endocytic recycling in smt2 smt3. Exogenous C24‐ethylsterols partially recover lateral root development and auxin distribution in smt2 smt3 roots. These results indicate that C24‐ethylsterols play a crucial role in division plane determination, directional auxin transport, and polar growth. It is proposed that the divergence of SMT2 genes together with the ability to produce C24‐ethylsterols were critical events to achieve polarized growth in the plant lineage. 相似文献