Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential.     

废弃玻璃骨料混凝土梁抗剪性能研究

运用简支梁的抗剪试验分别研究了用玻璃粗集料和玻璃细集料取代混凝土中粗骨料和细骨料对混凝土梁斜截面的破坏形态和抗剪承载力的影响。试验结果表明:玻璃集料混凝土梁的剪切破坏形态与普通混凝土梁基本相同;玻璃细集料混凝土梁与普通混凝土梁初始抗弯刚度基本相同,粗集料混凝土梁相对较小;玻璃集料混凝土梁的开裂荷载与普通集料混凝土梁接近;废弃玻璃细集料混凝土梁的抗剪承载力比普通混凝土梁高5%左右,废弃玻璃粗集料混凝土梁抗剪承载力比普通混凝土梁低13%左右。     

Action mechanisms of a new erythrocyte-derived depressing factor

To investigate the action mechanisms of a new erythrocyte-derived depressing factor (EDDF), the focus is placed on the effect of EDDF on both cytosolic and nuclear free calcium (Ca²⁺) transportation in vascular smooth muscle cell (VSMC), as well as the apoptosis and cell cycle of VSMC of rats. EDDF has been extracted from human erythrocytes. The changes of Ca²⁺ levels in cytoplasm ([Ca²⁺]_i) and nucleus ([Ca²⁺]_n) have been observed using a laser scanning confocal microscope together with fluo-3/AM as a calcium indicator. Flow cytometric technique was used to study the effect of EDDF on cell cycle and apoptosis of VSMC. [Ca²⁺], and [Ca²⁺]_n were significantly decreased through several different pathways: ( i ) it reduced the Ca²⁺ influx by blocking L-type voltage-dependent calcium channel (L-VDC) and R-type voltage-dependent calcium channel (R-VDC); (ii) it inhibited the Ca²⁺ release from inositol 1, 4, 5-trisphosphate (IP₃) sensitive calcium store; and (iii) activated Ca²⁺-ATPase of sarcoplasmic reticulum (SR) and promoted the transportation of Ca²⁺ from cytoplasm to SR. However, EDDF seemed to have little inhibitory effect on the Ca²⁺ release from ryonodine sensitive calcium pool. It was also found that EDDF (10⁻⁴ g/mL) significantly decreased the proportion of S phase of human umbilical vein (HUV) and inhibited the proliferation of VSMC induced by angiotensin II (Angll, 10⁻⁵ mol/L). The apopotosis did not occur when VSMC was cultured under normal condition. While VSMC apoptosis was induced by Angll (10⁻⁵ mol/L) and EDDF (10⁻⁴ g/mL) seemed to have little effect on it. The inhibitory effect of EDDF on the elevation of [Ca²⁺]_i and [Ca²⁺]_n of VSMC might play an essential role in its action mechanisms and the ways it affects the Ca²⁺ handling of VSMC demonstrate that EDDF was different from other endogenous blood pressure regulators and some known antihypertensive drugs. EDDF could inhibit the proliferation of VSMC, which indicated that it might be beneficial to the prevention and treatment of hypertension and arteriosclerosis.     

Interaction between integrin αIIbβ3 and synthesized cyclic hexapeptide containing RGD

The RGD sequence generally exists in the extracellular matrix proteins and can be recognized by many integrin proteins. The binding ability of immobilized biotinylated cyclic hexapeptide [cyclo(-Arg-Gly-Asp-D-Phe-Lys-Gly-)] containing RGD to integrin α_αbβ₃ was tested by the methods of ELISA and SPR. Results showed that a spacer of 1.48–2.2 nm between the peptide and the biotin residue was long enough to send the RGD sequence into the binding center embccedded within α_IIbβ₃, and the equilibrium dissociation constant was 1.1 μm. The work provides an ideal model system for the research of cell adhesion on solid surfaces.     

Photo-physical Characterisation of Novel Organic Dye-doped Solid-state Laser Materials

1 Results The development of tuneable solid-state organic dye lasers is a subject of considerable interest and research activity.Compared to conventional liquid dye lasers they have the advantage of being free of solvent handling,having small size,and being easy to operate.For high-performance solid-state dye lasers highly photo-stable dyes with low quantum yield of triplet formation and low triplet-triplet absorption cross-section in the lasing wavelength region are required.For solid state dye lasers organic molecules have been incorporated in inorganic glasses (mainly sol-gel glasses),in organic polymer matrices,and into hybrid compositions of inorganic-organic hosts.Here samples of the BODIPY dye (dipyrromethene-BF2 dye) PM597 incorporated in copolymers resembling inorganic-organic hybrid matrices are characterized by optical spectroscopic methods towards their application as solid-state laser rods.The inorganic function is entered by the constituent 3-(trimethoxysilyl)propyl methacrylate (TMSPMA).The organic constituents are monomers with one polymerizable group [methyl methacrylate (MMA),or 2-hydroxyethyl methacrylate (HEMA)],two [ethylene glycol dimethacrylate (EGDMA)],three [pentaerythriol triacrylate (PETA)],and four [pentaerythriol tetraacrylate (PETRA)] polymerizable groups.The copolymers were obtained by radical bulk polymerization with 2,2'-azobis(isobutyronitrile) (AIBN) as polymerization initiator.TMSPMA and MMA were also copolymerized by "in-situ" and simultaneous hydrolysis-condensation of the methoxy groups of TMSPMA during the free radical polymerization of MMA using AIBN in order to fully approach a sol-gel inorganic glass-organic polymer hybrid solid-state dye laser material.Structural and thermo-mechanical studies (thermogravimetry,differential scanning calorimetry,and infrared spectroscopy) revealed the highest thermo-mechanical stability for high-degree inter-crossing copolymerisation [COP(TMSPMA-PETA),COP(TMSPMA-PETRA)] and hydrolysis-polymerization [COPH(MMA-TMSPMA)].Concerning the optical spectroscopy characterisation,all studied PM597 doped copolymer samples exhibited high fluorescence quantum yields (60 % to 70 %),negligibly small excited-state absorption cross-sections (5% to 10 % of ground-state absorption at 527 nm),and high photo-stability (typically up to 3 million excitation cycles before degradation after some initial fading).The laser properties of the PM597 doped copolymers were evaluated by transversal pumping with 6 ns laser pulses of 5.5 mJ energy at 532 nm.Most of the studied samples surpassed 100 000 laser shots with no or only less than 50 % of laser output power reduction.     

What is Going on in a Critical Thermosyphon?

IntroductionWell- known optical phenomena in fluids in thethermodynamic critical state are the disappearanceof the meniscus between liquid and vapour phaseand the existence of a“critical opalescence”.　 This opalescence is observed as bluish inreflected…     

Hyperbranched Organometallic Polyynes :Optical and Thermal Properties and Their Transformation into Soft Ferromagnetic Ceramics

1Introduction Organometallic polymers have emerged as a group of interesting materials due to their useful catalytic,optical, electrical, sensing, and magnetic properties inaccessible by their pure organic parents. It is therefore highly desirable to utilize this class of high performance macromolecules for the preparation of micro- and nanosized patterns by photolithographic techniques and as precursors for advanced ceramics[1].     

X70管线钢焊接接头组织及其海水腐蚀规律

对X70管线钢现场实际焊接工艺下的焊接接头,采用显微镜、电化学方法及失重法等方法和手段对母材、焊缝、热影响区进行了显微组织分析和在海水中的极化曲线、腐蚀速率的测试,研究焊接接头在模拟海水环境中的腐蚀性能。研究表明,X70管线钢焊接接头各区域组织不均匀,实验室模拟海水环境下的电化学行为、腐蚀速率存在明显差异;在海水腐蚀过程中腐蚀电位和腐蚀速率会发生变化,热影响区（HAZ）与母材及焊缝形成电偶腐蚀,接头腐蚀以点蚀为主。     

疏水缔合聚合物凝胶调剖剂在陆9K1h油藏的应用

针对油水层复杂、渗透率高、含水上升快的陆9K₁h油藏,在室内通过筛选增粘能力和抗剪切能力较强的疏水缔合聚合物作为调剖用凝胶主剂,采用酚醛类作为交联剂,研制的凝胶体系（AP-BC）表观黏度可达11×10⁴mPa·s,并具有较好的稳定性;经多孔介质剪切后凝胶成胶时间延长50%,胶体强度降低小于10%,稳定性更好,老化5个月未见脱水现象;在相同渗透性的油、水饱和的填砂管实验中,AP-BC凝胶更易封堵水层。由于陆9K₁h油藏具有底水、薄层的特点,因此采用了“垫+调+堵”多段塞深部封堵的工艺,通过逐渐提高弱凝胶的强度,促使高强度堵剂得到合理的放置,实现对高渗透大孔道的封堵作用,提高注水开发的波及效果。现场试验表明,7个井组中,对应油井在调剖后第2个月到第6个月期间见到了明显增油效果。     

气体泡压法在测试储集层孔隙结构中的应用

测试储集层岩石孔隙结构的常规方法是压汞和铸体的薄片图像分析法,气体泡压法利用流体在孔喉内流动的物理规律来测定孔隙结构特征,能较真实地反映流体通过喉道的实际情况。对比分析气体泡压法与压汞法测试结果,后者测试出的主流孔喉直径是前者的2~4倍,前者测试储集层中参与渗流的有效喉道的分布特征,且更切合工程实际需要;对岩样酸化前后以及含水敏性矿物的岩样在水化前后的有效喉道分布进行了对比分析,能够明显地表征出酸化及水化前后有效喉道分布特征的变化情况,测试结果的对比性强、价值高。气体泡压法为测试储集层孔隙结构提供一种新方法和新途径。