Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese

We report two familial cases of NF1 presenting as C to T transitions changing an Arg-1947 codon to a stop codon. In one of the two families, cosegregation of the mutation with NF1 was demonstrated, indicating this mutation causes the disease in this family. As the same mutation at Arg-1947 has been reported previously in three cases of unrelated Caucasians (two are sporadic; the origin of the other is not reported), the codon at Arg-1947 (CGA) in the NF1 gene is considered to be a hotspot common among different ethnic groups and also among familial and sporadic cases.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47635/1/439_2004_Article_BF00218920.pd

母体免疫亢進時におけるインターロイキン6 の母胎間移行動態

ポスタ

Performance Evaluation of IMU and DVL Integration in Marine Navigation

Global navigation satellite system (GNSS) spoofing poses a significant threat to maritime logistics. Many maritime electronic devices rely on GNSS time, positioning, and speed for safe vessel operation. In this study, inertial measurement unit (IMU) and Doppler velocity log (DVL) devices, which are important in the event of GNSS spoofing or outage, are considered in conventional navigation. A velocity integration method using IMU and DVL in terms of dead-reckoning is investigated in this study. GNSS has been widely used for ship navigation, but IMU, DVL, or combined IMU and DVL navigation have received little attention. Military-grade sensors are very expensive and generally cannot be utilized in smaller vessels. Therefore, this study focuses on the use of consumer-grade sensors. First, the performance of a micro electromechanical system (MEMS)-based yaw rate angle with DVL was evaluated using 60 min of raw data for a 50 m-long ship located in Tokyo Bay. Second, the performance of an IMU-MEMS using three gyroscopes and three accelerometers with DVL was evaluated using the same dataset. A gyrocompass, which is equipped on the ship, is used as a heading reference. The results proved that both methods could achieve less than 1 km horizontal error in 60 min

Performance Evaluation of IMU and DVL Integration in Marine Navigation

Global navigation satellite system (GNSS) spoofing poses a significant threat to maritime logistics. Many maritime electronic devices rely on GNSS time, positioning, and speed for safe vessel operation. In this study, inertial measurement unit (IMU) and Doppler velocity log (DVL) devices, which are important in the event of GNSS spoofing or outage, are considered in conventional navigation. A velocity integration method using IMU and DVL in terms of dead-reckoning is investigated in this study. GNSS has been widely used for ship navigation, but IMU, DVL, or combined IMU and DVL navigation have received little attention. Military-grade sensors are very expensive and generally cannot be utilized in smaller vessels. Therefore, this study focuses on the use of consumer-grade sensors. First, the performance of a micro electromechanical system (MEMS)-based yaw rate angle with DVL was evaluated using 60 min of raw data for a 50 m-long ship located in Tokyo Bay. Second, the performance of an IMU-MEMS using three gyroscopes and three accelerometers with DVL was evaluated using the same dataset. A gyrocompass, which is equipped on the ship, is used as a heading reference. The results proved that both methods could achieve less than 1 km horizontal error in 60 min

The suppression of maternal-fetal leukemia inhibitory factor signal relay pathway by maternal immune activation impairs brain development in mice.

Recent studies in rodents suggest that maternal immune activation (MIA) by viral infection is associated with schizophrenia and autism in offspring. Although maternal IL-6 is though t to be a possible mediator relating MIA induced these neuropsychiatric disorders, the mechanism remains to be elucidated. Previously, we reported that the maternal leukemia inhibitory factor (LIF)-placental ACTH-fetal LIF signaling relay pathway (maternal-fetal LIF signal relay) promotes neurogenesis of fetal cerebrum in rats. Here we report that the maternal-fetal LIF signal relay in mice is suppressed by injection of polyriboinosinic-polyribocytidylic acid into dams, which induces MIA at 12.5 days post-coitum. Maternal IL-6 levels and gene expression of placental suppressor of cytokine signaling 3 (Socs3) increased according to the severity of MIA and gene expression of placental Socs3 correlated with maternal IL-6 levels. Furthermore, we show that MIA causes reduction of LIF level in the fetal cerebrospinal fluid, resulting in the decreased neurogenesis in the cerebrum. These findings suggest that maternal IL-6 interferes the maternal-fetal LIF signal relay by inducing SOCS3 in the placenta and leads to decreased neurogenesis

Alteration of fetal adrenocorticotropic hormone (ACTH) and leukemia inhibitory factor (LIF) levels by maternal immune activation (MIA).

<p>(A) Concentration of ACTH in fetal serum (FS) and LIF in fetal cerebrospinal fluid (CSF) at 3 h after MIA at 12.5 days post-coitum (dpc). (B) Concentration of ACTH in FS and LIF in fetal CSF at 13.5 dpc. (C) Correlation of LIF level in CSF and ACTH level in FS. MIA was induced by an intraperitoneal (i.p.) injection of 4 or 20 mg/kg polyriboinosinic-polyribocytidylic acid [poly (I:C)] at 12.5 dpc. Controls were injected with an equal volume of saline (0.01 ml/g body weight). Gray bars: ACTH concentration, open circles: LIF concentration. *, <i>p</i> < 0.05 vs. control in FS. #, <i>p</i> < 0.05 vs. control in CSF. Number of dams = 3 or 4 in each group. <i>Error bars</i>, SEM.</p

Response of leukemia inhibitory factor (LIF)–adrenocorticotropic hormone (ACTH)–LIF signaling to maternal LIF stimulation in mice.

<p>(A) Chronological change of LIF levels in fetal cerebrospinal fluid (CSF). (B) <i>Pomc</i> expression levels in the placenta. (C) ACTH level in fetal serum. (D) LIF level in fetal CSF. Reactivity to maternal LIF stimulation in placenta and fetus were examined at 3 h after the injection at 12.5 and 13.5 days post-coitum (dpc). Mouse recombinanat LIF (rLIF) was administered to dams at 5 μg/kg body weight. *, <i>p</i> < 0.05 vs. control at 12.5 dpc. **, <i>p</i> < 0.05 versus control at 13.5 dpc. Number of dams = 3 or 4 in each group. <i>Error bars</i>, SEM.</p

Maternal immune activation (MIA) induced changes of placental gp130 related cytokines gene expression and JAK/STAT3 signaling.

<p>(A) Expression of <i>Il-6st</i>. (B) Expression of <i>Il-6r</i>. (C) Expression of <i>Lifr</i>. (D) Expression of suppressor of cytokine signaling 3 (<i>Socs3</i>) at 13.5 days post-coitum (dpc). (E) Analysis of STAT3 phosphorylation at 13.5 dpc. (F) Correlation of suppressor of cytokine signaling 3 (<i>Socs3</i>) mRNA expression and maternal interleukin-6 (IL-6). Placental <i>Socs3</i> expression was upregulated with the polyriboinosinic-polyribocytidylic acid [poly (I:C)] dosage. polyriboinosinic-polyribocytidylic acid [poly (I:C)] at 12.5 dpc, placenta were analysed 3 h after the injection (A, B, C). Expression of <i>Socs3</i> and the activation of JAK2/STAT3 signaling were analysed 24 h after the injection (D and E). Controls, Poly 4 and Poly 20 were blotted in the same membrane (E). Maternal IL-6 in control was not detected and is represented as Zero in the Fig (F). Controls were injected with an equal volume of saline (0.01 ml/g body weight). #, <i>p</i> < 0.01. *, <i>p</i> < 0.05. Number of dams = 3 or 4 in each group, two foetuses were collected as a pooled sample from each litter. <i>Error bars</i>, SEM.</p