On a system of qq-partial differential equations with applications to qq-series

Using the theory of functions of several variables and $q$-calculus, we prove an expansion theorem for the analytic function in several variables which satisfies a system of $q$-partial differential equations. Some curious applications of this expansion theorem to $q$-series are discussed. In particular, an extension of Andrews' transformation formula for the $q$-Lauricella function is given.Comment: 15 pages, accepted for the proceedings of the Alladi 60th birthday conferenc

COL4A1 and COL4A2 Mutations Analyses with Perinatal Arterial ?schemic Stroke

Perinatal arterial ischemic stroke (PAIS) is one of the frequent causes of mortality and morbidity, but its etiology remains unclear. COL4A1 and COL4A2 mutations are monogenetic causes of weakness of the basement vascular membranes resulting in cerebral small-vessel disease, cerebral hemorrhage, and porencephaly. We hypothesized that variations in the COL4A1 and COL4A2 genes cause PAIS and performed mutation screening of these genes in 17 PAIS patients by whole-exome sequencing. Clinical, demographic, and laboratory data of the 17 PAIS patients were obtained by evaluating hospital files retrospectively. Patients included in the study were invited to the clinic for COL4A1 and COL4A2 mutation analysis. Results: The patient group consisted of 13 females (76.5%) and four males (23.5%) with a mean age of 107.4 ± 11.5 months. Maternal/fetal and prothrombotic risk factors identified in 52.9% and 94.1% of the patients, respectively. Whole-exome sequencing analysis did not reveal COL4A1 and COL4A2 pathological mutations in any of the patients.  Although we did not find an association between PAIS and COL4A1 and COL4A2 variations, we believe that new studies with larger patient populations may reveal such a relationship

Sn-1位に多価不飽和脂肪酸を結合する2-0-methoxyethoxymethylglycerolの立体配置決定

A correlation of optical rotation, optical purity and configuration of the asymmetric center was done for 2-0-methoxyethoxymethylglycerol bearing polyunsaturated fatty acyl group at sn-1 position. This compound was enzymatically prepared and is an important starting material for the syntheses of optical active glycerophospholipids naving polyunwaturated fatty acyl groups.自然界に広く存在し，重要な生理機能を担っている多価不飽和脂肪酸結合リン脂質の化学的合成に必要な出発原料としての2-0-methoxyethoxymethylglycerolの立体配置と光学純度を，立体配置・光学純度既知の物質に化学的に誘導し，それらの比旋光度をお互いに比較する事により決定した

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression

Aaptamine-related alkaloid from the marine sponge Aaptos aaptos

A new aaptamine-related alkaloid, 1,3-dioxolo [4,5-d] benzo [de]-1,6-naphthyridine (methylenedioxyaaptamine, 1), was isolated from the organic extracts of the Bornean marine sponge Aaptos aaptos, together with a known aaptamine derivative, 8,9,9-trimethoxy-9H-benzo [de]-1,6-naphthyridine (2). The structure of compound 1 was elucidated by interpretation of its spectroscopic data. Two compounds were tested for their cytotoxic potentials against adult T-cell leukemia (ATL) cells, and compound 1 showed moderate cytotoxic potential

Hornerin deposits in neuronal intranuclear inclusion disease : direct identification of proteins with compositionally biased regions in inclusions

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder, characterized by the presence of eosinophilic inclusions (NIIs) within nuclei of central and peripheral nervous system cells. This study aims to identify the components of NIIs, which have been difficult to analyze directly due to their insolubility. In order to establish a method to directly identify the components of NIIs, we first analyzed the huntingtin inclusion-rich fraction obtained from the brains of Huntington disease model mice. Although the sequence with expanded polyglutamine could not be identified by liquid-chromatography mass spectrometry, amino acid analysis revealed that glutamine of the huntingtin inclusion-rich fraction increased significantly. This is compatible with the calculated amino acid content of the transgene product. Therefore, we applied this method to analyze the NIIs of diseased human brains, which may have proteins with compositionally biased regions, and identified a serine-rich protein called hornerin. Since the analyzed NII-rich fraction was also serine-rich, we suggested hornerin as a major component of the NIIs. A specific distribution of hornerin in NIID was also investigated by Matrix-assisted laser desorption/ionization imaging mass spectrometry and immunofluorescence. Finally, we confirmed a variant of hornerin by whole-exome sequencing and DNA sequencing. This study suggests that hornerin may be related to the pathological process of this NIID, and the direct analysis of NIIs, especially by amino acid analysis using the NII-rich fractions, would contribute to a deeper understanding of the disease pathogenesis.Peer reviewe

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Background Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature. Methods Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated. Results Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria-like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS. Conclusion McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE

A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)

Prader-Willi syndrome (PWS) is a multiple anomalies/mental retardation syndrome. The putative PWS gene(s) remains unknown, and its occurrence is based on genomic imprinting at chromosome 15q11-q13. We have constructed a 1.5- Mb, fine, physical map of PWS critical region (PWCR) between two markers, D15S9 and D15S174 at 15q11-q13. The map is composed of 32 PAC and 3 BAC clones without any gaps. By the PAC/BAC-end sequencing procedure, a total of 26 sequence tag site (STS) markers were newly generated, and 5 expressed sequence tags (ESTs) were mapped in the region. The contig map was verified by both STS and fluorescence in situ hybridization analyses. Our map has higher resolution, compared with a previous YAC-based map of PWCR. It is useful for further genome analysis, especially on genomic imprinting of this region