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Advances in Signal Processing for GNSSs [From the Guest Editors]
Closas, Pau,Luise, Marco,Avila-Rodriguez, Jose-Angel,Hegarty, Christopher,Lee, Jiyun IEEE 2017 IEEE signal processing magazine Vol.34 No.5
<P>Examines global navigation satellite systems (GNSS). The papers in this special issue address the design of special GNSS signals, a topic of particular interest in the past and still of great relevance today. It continues with the discussion of effective techniques for receiver performance enhancement and finishes with the analysis of some vulnerabilities. GNSS technology today is ubiquitous in many transversal infrastructures and has become the backbone of all applications where precise position, navigation, and timing (PNT) of user equipment is required. Moreover, GNSS is the pervasive PNT technology in outdoor environments, where its performance, coverage, and reliability exceeds that of other technical solutions.</P>
Alfand Marl F. Dy Closas,Shen-Yang LIM 대한파킨슨병및이상운동질환학회 2023 Journal Of Movement Disorders Vol.16 No.1
KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
A common coding variant in CASP8 is associated with breast cancer risk
Cox, Angela,Dunning, Alison M,Garcia-Closas, Montserrat,Balasubramanian, Sabapathy,Reed, Malcolm W R,Pooley, Karen A,Scollen, Serena,Baynes, Caroline,Ponder, Bruce A J,Chanock, Stephen,Lissowska, Jola Nature Pub. Co 2007 Nature genetics Vol.39 No.3
The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 −202 C → A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3′ UTR A → G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9–15 studies, comprising 11,391–18,290 cases and 14,753–22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85–0.94) and 0.74 (95% c.i.: 0.62–0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P<SUB>trend</SUB> = 1.1 × 10<SUP>−7</SUP>) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02–1.13) and 1.16 (95% c.i.: 1.08–1.25), respectively; P<SUB>trend</SUB> = 2.8 × 10<SUP>−5</SUP>). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.