• 대한수학회보
• /
• 제52권5호
• /
• pp.1721-1728
• /
• 2015

We give certain properties of elements in a coset group with hypercomplex numbers and research a monogenic function and a Clifford regular function with values in a coset group by defining differential operators. We give properties of those functions and a power of elements in a coset group with hypercomplex numbers.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제22권1호
• /
• pp.41-49
• /
• 2019

Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with "neonatal IBD" or "infantile-onset IBD" have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.

• Childhood Kidney Diseases
• /
• 제23권2호
• /
• pp.86-92
• /
• 2019

Steroid-resistant nephrotic syndrome (SRNS) has long been a challenge for clinicians due to its poor responsiveness to immunosuppressants, and rapid progression to end-stage renal disease. Identifying a monogenic cause for SRNS may lead to a better understanding of podocyte structure and function in the glomerular filtration barrier. This review focuses on genes associated with slit diaphragm, actin cytoskeleton, transcription factors, nucleus, glomerular basement membrane, mitochondria, and other proteins that affect podocyte biology.

• 대한수학회보
• /
• 제59권5호
• /
• pp.1215-1235
• /
• 2022

In this paper we study Szegö kernel projections for Hardy spaces in quaternionic Clifford analysis. At first we introduce the matrix Szegö projection operator for the Hardy space of quaternionic Hermitean monogenic functions by the characterization of the matrix Hilbert transform in the quaternionic Clifford analysis. Then we establish the Kerzman-Stein formula which closely connects the matrix Szegö projection operator with the Hardy projection operator onto the Hardy space, and we get the matrix Szegö projection operator in terms of the Hardy projection operator and its adjoint. At last, we construct the explicit matrix Szegö kernel function for the Hardy space on the sphere as an example, and get the solution to a Diriclet boundary value problem for matrix functions.

• Journal of Genetic Medicine
• /
• 제19권1호
• /
• pp.7-13
• /
• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• 한국식물학회:학술대회논문집
• /
• 한국식물학회 1996년도 제10회 식물생명공학심포지움 고등식물 발생생물학의 최근 진보
• /
• pp.19-25
• /
• 1996

Three key genetic loci required for proper progression of leaf senescence were identified in Arabidopsis thaliana. Mutations in these loci cause delay in all senescence symptoms examined, including both anabolic and catabolic activities, during natural senescence and upon artificial senescence induced by various senescence-inducing treatments. The result provides a decisive evidence that leaf senescence is a genetically programmed phenomenon controlled by several monogenic loci in Arabidopsis thaliana. The result further indicates that leaf senescence caused by various senescence signals occurs, at least in part, through common pathways in Arabidopsis and that the threed genetic loci function at the common steps.

• 한국자기공명학회논문지
• /
• 제16권1호
• /
• pp.34-45
• /
• 2012

Melanocortin-4 receptor (MC4R) subtype is associated with obese humans. Especially, in a patient with severe early-onset obesity, novel heterozygous mutation in the MC4R gene was detected, resulting in an exchange of aspartic acid to asparagine in $90^{th}$ amino acid residue located in the predicted second trans-membrane domain (TM2). Mutations in the melanocortin-4 receptor (MC4R) gene are the most frequent monogenic causes of severe obesity which have been described as heterozygous with loss of function. In order to compare structure difference between MC4R wild type (MC4R-TM2-wt) and mutant (MC4R-TM2-D90N), we designed both MC4R-TM2-wt and MC4R-TM2-D90N construct in pET 21b vector. In this study, we optimized high-yield purification procedure for recombinant TM2-D90N. Eluted recombinant protein was resolubilized under urea condition for thrombin cleavage reaction and we conducted the high-performance liquid chromatography (HPLC) with reverse phase column under 1% acetonitrile, 0.01% TFA buffer solution. The molecular size of purified target peptide was confirmed by Tricine-SDS page analysis. To characterize MC4R-TM2-D90N, we have performed $^{15}N$-isotope labeling of peptide using M9 media and purified labeled target peptide for hetero-nuclear NMR spectroscopy.