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Mutations of <i>ADAMTS9</i> Cause Nephronophthisis-Related Ciliopathy
Choi, Yo Jun,Halbritter, Jan,Braun, Daniela A.,Schueler, Markus,Schapiro, David,Rim, John Hoon,Nandadasa, Sumeda,Choi, Won-il,Widmeier, Eugen,Shril, Shirlee,Kö,rber, Friederike,Sethi, Sidharth K. Elsevier 2019 American journal of human genetics Vol.104 No.1
<P>Nephronophthisis-related ciliopathies (NPHP-RCs) are a group of inherited diseases that are associated with defects in primary cilium structure and function. To identify genes mutated in NPHP-RC, we performed homozygosity mapping and whole-exome sequencing for >100 individuals, some of whom were single affected individuals born to consanguineous parents and some of whom were siblings of indexes who were also affected by NPHP-RC. We then performed high-throughput exon sequencing in a worldwide cohort of 800 additional families affected by NPHP-RC. We identified two <I>ADAMTS9</I> mutations (c.4575_4576del [p.Gln1525Hisfs<SUP>∗</SUP>60] and c.194C>G [p.Thr65Arg]) that appear to cause NPHP-RC. Although ADAMTS9 is known to be a secreted extracellular metalloproteinase, we found that ADAMTS9 localized near the basal bodies of primary cilia in the cytoplasm. Heterologously expressed wild-type ADAMTS9, in contrast to mutant proteins detected in individuals with NPHP-RC, localized to the vicinity of the basal body. Loss of ADAMTS9 resulted in shortened cilia and defective sonic hedgehog signaling. Knockout of <I>Adamts9</I> in IMCD3 cells, followed by spheroid induction, resulted in defective lumen formation, which was rescued by an overexpression of wild-type, but not of mutant, ADAMTS9. Knockdown of <I>adamts9</I> in zebrafish recapitulated NPHP-RC phenotypes, including renal cysts and hydrocephalus. These findings suggest that the identified mutations in <I>ADAMTS9</I> cause NPHP-RC and that ADAMTS9 is required for the formation and function of primary cilia.</P>
Micromachined ZnO Piezoelectric Pressure Sensor and Pyroelectric Infrared Detector in GaAs
Jun Rim Choi,Pyung Choi 한국정보과학회 1998 Journal of Electrical Engineering and Information Vol.3 No.2
Piezoelectric pressure sensors and pyroelectric infrared detectors based on ZnO thin film have been integrated with GaAs metal-semiconductor field effect transistor (MESFET) amplifiers. Surface micromachining techniques have been applied in a GaAs MESFET process to form both microsensors and electronic circuits. The on-chip integration of microsensors such as pressure sensors and infrared detectors with GaAs integrated circuits is attractive because of the higher operating temperature up to 200 oC for GaAs devices compared to 125 oC for silicon devices and radiation hardness for infrared imaging applications. The micorsensors incorporate a 1 μm-thick sputtered ZnO capacitor supported by a 2 μ m-thick aluminum membrane formed on a semi-insulating GaAs substrate. The piezoelectric pressure sensor of an area 80 × 80 μ m2 designed for use as a miniature microphone exhibits 2.99 μ V/ μ bar sensitivity at 400 Hz. The voltage responsivity and the detectivity of a single infrared detector of an area 80 × 80 μ m2 is 700 V/W and 6 × 108 cmㆍ√Hz/W at 10 Hz respectively, and the time constant of the sensor with the amplifying circuit is 53 ms. Circuits using 4μm-gate GaAs MESFETs are fabricated in planar, direct ion-implanted process. The measured transconductance of a 4 μm - gate GaAs MESFET is 25.6 mS/mm and 12.4 mS/mm at 27 oC and 200 oC, respectively. A differential amplifier whose voltage gain is 33.7 dB using 4 μm gate GaAs MESFETs is fabricated for high selectivity to the physical variable being sensed.
The Effect of Lumbar Muscle Strengthening Exercise Types on Balance and Walking Ability of Elderly
Yoo Rim Choi,Jong Woo Kim,Byeong Jun Hwang 국제물리치료학회 2011 Journal of International Academy of Physical Ther Vol.2 No.2
The purpose of this study is to examine the effect of stabilization, resistance exercise, and combined exercise for lumbar on balance and walking ability of elderly. This study selected 22 subjects of over 65 years old elderly women who satisfy the study condition from A, B and C Senior Citizen's Center, in Daegu. The subjects were divided into groups; 7 for resistance exercise group, 8 for stabilization exercise group, and 7 for combined exercise group(resistance and stabilization exercise). The exercises were conducted for 60min a day, three times a week for 12 weeks. Balance and walking ability were checked before the exercise, 6 weeks later, and 12 weeks later. First, all lumbar muscle strengthening exercises were effective for static balance which changed according to exercising period. In dynamic balance, the resistance exercise group showed significant improvement in sit to stand. Stabilization exercise group showed significant improvement in all factors. The combined exercise group showed significant improvement in sit to stand and timed up and go. There was no difference between the exercise types. Second, the resistance exercise group showed significant change in Cadence which changed according to exercising period. The combined exercise group showed significant improvement in all factors. Between the exercise types, combined exercise was a bit more effective than resistance exercise. According to the result of 12 weeks of lumbar muscle exercise, combined exercise is considered to be the most effective exercise to prevent fall as it helps balance and walking ability slightly more than other exercises. Therefore, this study can understand the risk factors for fall accidents that frequently occur among elderly and adopt the combined exercise to prevent fall which in turn will prevent secondary problems occur from fall accidents and improve quality of life of elderly.