• Journal of Genetic Medicine
• /
• 제18권1호
• /
• pp.44-47
• /
• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• 대한유전성대사질환학회지
• /
• 제23권1호
• /
• pp.1-11
• /
• 2023

Inborn errors of metabolism encompass a wide variety of disorders, frequently affecting bone. This review presents a comprehensive retrospect on the primary involvement of bone in inborn errors of metabolism. Primary involvement of bone in inborn errors of metabolism includes entities that primarily affect the bone marrow, mineral component or cartilage. These include lysosomal storage disorders, hypophosphatasia, and hereditary hypophosphatemic rickets. In this review, we discuss the primary involvement of bone in inborn errors of metabolism (hypophosphatasia, X-linked hypophosphatemic rickets, Gaucher disease, and mucopolysaccharidoses) along with the therapeutic agents used in clinical settings, diagnostic strategies, and general management. With the development of disease-specific targeted therapies and supportive care, more number of patients with these disorders live longer and survive into adulthood. Moreover, skeletal symptoms have become a more prominent feature of these disorders. This makes the awareness of these skeletal symptoms more important.

• Reproductive and Developmental Biology
• /
• 제41권2호
• /
• pp.33-40
• /
• 2017

X-chromosome inactivation is one of the most complex events observed in early embryo developments. The epigenetic changes occurred in female X-chromosome is essential to compensate dosages of X-linked genes between males and females. Because of the relevance of the epigenetic process to the normal embryo developments and stem cell studies, X-chromosome inactivation has been focused intensively for last 10 years. Initiation and regulation of the process is managed by diverse factors. Especially, proteins and non-coding RNAs encoded in X-chromosome inactivation center, and a couple of transcription factors have been reported to regulate the event. In this review, we introduce the reported factors, and how they regulate epigenetic inactivation of X-chromosomes.

• 한국동물학회:학술대회논문집
• /
• 한국동물학회 2003년도 한국생물과학협회 학술발표대회
• /
• pp.211.2-211
• /
• 2003

No Abstract, See Full Text

• 대한약학회:학술대회논문집
• /
• 대한약학회 2000년도 NEW STRATEGY FOR DRUG DEVELOPMENT IN POST-GENOMIC ERA(대한약학회)
• /
• pp.129.1-129.1
• /
• 2000

• 한국습지학회지
• /
• 제22권4호
• /
• pp.321-327
• /
• 2020

산업발전과 인구증가, 생활수준의 향상으로 하·폐수 발생량 및 하수처리장 연계처리수가 매년증가 하고 있다. 연계처리수는 저유량 고농도의 특징을 가지고 있다. 따라서 하수처리장 운영에 큰 영향을 미치고 연계처리수를 처리하기 위해 많은 비용도 사용되는 것으로 나타났다. 본 연구에서는 연계처리수의 유입 유량을 개별 반응조로 전량 유입시킬 경우 방류수 수질이 적게 상승한 시나리오를 도출했고, 모델링 결과 유입하수, 무산소조에 유입시킬 경우 방류수 수질이 가장 적게 상승하는 것을 확인할 수 있었다. 이와 같은 결과를 바탕으로 연계처리수의 유입 유량을 유입하수와 무산소조로 분배하여 유입시킬 경우에 대하여 분배 비율에 대한 다양한 시나리오를 생성했다. 다양한 시나리오를 통해 모델링을 진행한 결과 유입하수(80%), 무산소조(20%)의 비율로 연계처리수의 유입유량을 분배 유입 시킬 경우 TN, TP의 수질이 가장 적게 상승하는 것으로 나타났다.

• Tuberculosis and Respiratory Diseases
• /
• 제54권6호
• /
• pp.628-634
• /
• 2003

기관지확장증은 일반적으로 원인을 찾기 위한 광범위한 조사없이 증상적 치료를 하는 경우가 많으나 기관지확장증을 유발할 수 있는 원인을 아는 경우 특별한 치료 방침을 정할 수도 있다. X연관 무감마글로불린혈증은 세포질 내 X 염색체에 존재하는 Bruton's tyrosine kinase (Btk) 유전자의 돌연변이에 의해 성숙 B 림프구가 분화하지 못하여 발생하는 체액성 면역결핍질환으로 반복적인 호흡기감염을 통해 기관지확장증을 유발한다. 이는 드문 유전적 질환으로 조기 발견과 주기적인 면역글로불린 치료가 중요하다. 저자들은 반복적인 감염의 과거력과 함께 미만성 기관지확장증을 가진 성인 남성에서 BTK 유전자의 돌연변이를 확인하여 X연관 무감마글로불린혈증을 진단하고 치료한 사례를 경험하여 이를 보고하는 바이다.

• Animal cells and systems
• /
• 제6권3호
• /
• pp.227-232
• /
• 2002

GroESLx proteins of symbiotic X-bacteria were overproduced in Escherichia coli and their structural characteristics were assayed after simple purification. The GroESx and GroELx were heat-stable at 8$0^{\circ}C$ and 5$0^{\circ}C$, respectively. After heat-treatment, GroESx was purified by DEAE Sephadex A-50 chromatography and GroELx was purified by step- and linear sucrose density gradient ultracentrifugation. Molecular masses of GroESx and GroELx were 50-80 kDa and 800 kDa, respectively, as estimated by sucrose density gradient ultracentrifugation. In chemical cross-linking analysis, subunits of GroESx were mostly cross-linked by incubation for 3 h in 0.4% glutaralde-hyde and GroESx was found to be composed of homo-heptamer subunits. Those of GroELx were cross-linked within 10 min in 0.3% glutaraldehyde and GroELx was in two stacks of homo-heptamer subunits. On the other hand, GroESx and GroELx proteins in a solution could not be cross-linked even after incubation for 3 h in 0.5% glutaraldehyde. GroELx was stable at 4-37$^{\circ}C$. In the presence of both GroESx and ATP, GroELx$_{14}$ was stable at 37$^{\circ}C$ but not at 4$^{\circ}C$ or 24$^{\circ}C$. Thus, we confirmed the oligomeric properties of GroESx$_{7}$ and GroELx$_{14}$ and their stability to heat and in the interaction with GroESx.x.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제3권1호
• /
• pp.105-109
• /
• 2000

저자들은 B형 간염 바이러스에 수직 감염된 13세 된 XLA 환아에서 발생한 간세포 암종 1례를 경험하였기에 보고하는 바이며, 간세포 암종의 발생은 XLA 환아에서 수직 감염된 B형 간염 바이러스가 효과적으로 제거되지 못해 발생되었을 것으로 사료된다.

• Journal of Genetic Medicine
• /
• 제15권1호
• /
• pp.13-16
• /
• 2018

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.