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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, S.Y.,Bae, J.S.,Kim, N.K.D.,Forzano, F.,Girisha, K.M.,Baldo, C.,Faravelli, F.,Cho, T.J.,Kim, D.,Lee, K.Y.,Ikegawa, S.,Shim, J.S.,Ko, A.R.,Miyake, N.,Nishimura, G.,Superti-Furga, A.,Spranger, J.,Ki University of Chicago Press [etc.] 2016 American journal of human genetics Vol.98 No.6
<P>Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-beta) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-beta. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define 'XLR SEMD, BGN type'' as a nosologic entity.</P>
Effect of swaging on Young@?s modulus of β Ti-33.6Nb-4Sn alloy
Hanada, S.,Masahashi, N.,Jung, T.K.,Miyake, M.,Sato, Y.S.,Kokawa, H. Elsevier 2014 Journal of the mechanical behavior of biomedical m Vol.32 No.-
The effect of swaging on the Young's modulus of β Ti-33.6Nb-4Sn rods was investigated by X-ray diffraction, thermography, microstructural observations, deformation simulator analysis and cyclic tensile deformation. Stress-induced α'' martensite was stabilized by swaging, dependent on the diameter reduction rate during swaging. Thermography and deformation simulator analysis revealed that swaged rods were adiabatically heated, and consequently, stress-induced α'' underwent reverse transformation. Young's modulus, which was measured by the slope of the initial portion of the stress-strain curve, decreased from 56GPa in the hot-forged/quenched rod to 44GPa in the rapidly swaged rod with a high reduction rate and to 45GPa in the gradually swaged rod with a low reduction rate. The tangent modulus, which was measured by the slope of the tangent to any point on the stress-strain curve, decreased with strain even in the linear range of the stress-strain curve of the hot-forged/quenched rod and the rapidly swaged rod, while the tangent modulus remained unchanged for the gradually swaged rod. It was found that Young's moduli in swaged β Ti-33.6Nb-4Sn rods were affected by stabilized α'' martensite. Low Young's modulus of 45GPa and high strength over 800MPa were obtained when the reverse transformation by adiabatic heating was suppressed and the stress-induced α'' was sufficiently stabilized by gradual swaging to a 75% reduction in cross section area.
Miyake, N.,Tsukaguchi, H.,Koshimizu, E.,Shono, A.,Matsunaga, S.,Shiina, M.,Mimura, Y.,Imamura, S.,Hirose, T.,Okudela, K.,Nozu, K.,Akioka, Y.,Hattori, M.,Yoshikawa, N.,Kitamura, A.,Cheong, H.,Kagami, S University of Chicago Press [etc.] 2015 American journal of human genetics Vol.97 No.4
The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has central functions in nucleocytoplasmic transport, nuclear framework, and gene regulation. Nucleoporin 107 kDa (NUP107) is a component of the NPC central scaffold and is an essential protein in all eukaryotic cells. Here, we report on biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). These individuals have pathologically focal segmental glomerulosclerosis, a condition that leads to end-stage renal disease with high frequency. NUP107 is ubiquitously expressed, including in glomerular podocytes. Three of four NUP107 mutations detected in the affected individuals hamper NUP107 binding to NUP133 (nucleoporin 133 kDa) and NUP107 incorporation into NPCs in vitro. Zebrafish with nup107 knockdown generated by morpholino oligonucleotides displayed hypoplastic glomerulus structures and abnormal podocyte foot processes, thereby mimicking the pathological changes seen in the kidneys of the SRNS individuals with NUP107 mutations. Considering the unique properties of the podocyte (highly differentiated foot-process architecture and slit membrane and the inability to regenerate), we propose a ''podocyte-injury model'' as the pathomechanism for SRNS due to biallelic NUP107 mutations.
Miyake, N.,Udalski, A.,Sumi, T.,Bennett, D. P.,Dong, S.,Street, R. A.,Greenhill, J.,Bond, I. A.,Gould, A.,Kubiak, M.,Szymań,ski, M. K.,Pietrzyń,ski, G.,Soszyń,ski, I.,Ulaczyk, K.,Wyrzyk IOP Publishing 2012 The Astrophysical journal Vol.752 No.2
<P>We report the extremely high-magnification (A > 1000) binary microlensing event OGLE-2007-BLG-514. We obtained good coverage around the double peak structure in the light curve via follow-up observations from different observatories. The binary lens model that includes the effects of parallax (known orbital motion of the Earth) and orbital motion of the lens yields a binary lens mass ratio of q = 0.321 +/- 0.007 and a projected separation of s = 0.072 +/- 0.001 in units of the Einstein radius. The parallax parameters allow us to determine the lens distance D-L = 3.11 +/- 0.39 kpc and total mass M-L = 1.40 +/- 0.18 M-circle dot; this leads to the primary and secondary components having masses of M-1 = 1.06 +/- 0.13 M-circle dot and M-2 = 0.34 +/- 0.04 M-circle dot, respectively. The parallax model indicates that the binary lens system is likely constructed by the main-sequence stars. On the other hand, we used a Bayesian analysis to estimate probability distributions by the model that includes the effects of xallarap (possible orbital motion of the source around a companion) and parallax (q = 0.270 +/- 0.005, s = 0.083 +/- 0.001). The primary component of the binary lens is relatively massive, with M-1 = 0.9(-0.3)(+4.6) M-circle dot and it is at a distance of D-L = 2.6(-0.9)(+3.8) kpc. Given the secure mass ratio measurement, the companion mass is therefore M-2 = 0.2(-0.1)(+1.2) M-circle dot. The xallarap model implies that the primary lens is likely a stellar remnant, such as a white dwarf, a neutron star, or a black hole.</P>
Neutron and proton energy spectra from the non-mesonic weak decays of HeΛ5 and CΛ12
Okada, S.,Ajimura, S.,Aoki, K.,Banu, A.,Bhang, H.C.,Fukuda, T.,Hashimoto, O.,Hwang, J.I.,Kameoka, S.,Kang, B.H.,Kim, E.H.,Kim, J.H.,Kim, M.J.,Maruta, T.,Miura, Y.,Miyake, Y.,Nagae, T.,Nakamura, M.,Nak Elsevier 2004 Physics letters: B Vol.597 No.3
<P><B>Abstract</B></P><P>We have simultaneously measured the energy spectra of neutrons and protons emitted in the non-mesonic weak decays of HeΛ5 and CΛ12 hypernuclei produced via the (<SUP>π+</SUP>,<SUP>K+</SUP>) reaction with much higher statistics than those of previous experiments. The neutron-to-proton yield ratios for both hypernuclei at a high energy threshold (60 MeV) were approximately equal to two, which suggests that the ratio of the neutron- and proton-induced decay channels, <SUB>Γn</SUB>(Λn→nn)/<SUB>Γp</SUB>(Λp→np), is about 0.5. In the neutron energy spectra, we found that the yield of the low-energy component is unexpectedly large, even for HeΛ5.</P>
Tribological properties of DLC films on polymers
T. HASHIZUME,S. MIYAKE,S. WATANABE,M. SATO 한국트라이볼로지학회 2002 한국트라이볼로지학회 학술대회 Vol.2002 No.10
Our study is to search for tribological properties of diamond-like carbon (DLC) films as known as anti-wear hard thin film on various polymers. This report deals with the deposition of DLC films on various polymer substrates in vacuum by magnetron radio frequency (RF) sputtering method with using argon plasma and graphite, titanium target. The properties of friction and wear are measured using a ball-on-disk wear-testing machine. The properties of friction and wear have been remarkably improved by DLC coating. Moreover the composition of DLC films has been analyzed by using auger electron spectroscopy(AES). The wear rate of titanium-containing DLC film is lower than that of no-metal-containing DLC film.
Nanoscale Processing on Silicon by Tribochemical Reaction
J. KIM,S. MIYAKE,K. SUZUKI 한국트라이볼로지학회 2002 한국트라이볼로지학회 학술대회 Vol.2002 No.10
The properties and mechanism of silicon protuberance and groove processing by diamond tip sliding using atomic force microscope (AFM) in atmosphere were studied. To control the height of protuberance and the depth of groove, the processed height and depth depended on load and diamond tip radius were evaluated. Nanoprotuberances and grooves were fabricated on a silicon surface by approximately 100-㎚-radius diamond tip sliding using an atomic force microscope in atmosphere. To clarify the mechanical and chemical properties of these parts processed, changes in the protuberance and groove profiles due to additional diamond tip sliding and potassium hydroxide (KOH) solution etching were evaluated. Processed protuberances were negligibly removed, and processed grooves were easily removed by additional diamond tip sliding. The KOH solution selectively etched the unprocessed silicon area, while the protuberances, grooves and flat surfaces processed by diamond tip sliding were negligibly etched. Three-dimensional nanofabrication is performed in this study by utilizing these mechanic-chemically processed parts as protective etching mask for KOH solution etching.