Chong Ae Kim
A5100710488- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- Congenital heart defects research
- Genomics and Rare Diseases
- Williams Syndrome Research
- Genetics and Neurodevelopmental Disorders
- Protein Tyrosine Phosphatases
- Connective tissue disorders research
- RNA modifications and cancer
- Trypanosoma species research and implications
- Galectins and Cancer Biology
- Genetic Syndromes and Imprinting
- Craniofacial Disorders and Treatments
- Prenatal Screening and Diagnostics
- Congenital limb and hand anomalies
- Chromosomal and Genetic Variations
- Congenital Heart Disease Studies
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Glycogen Storage Diseases and Myoclonus
- Immunodeficiency and Autoimmune Disorders
- Bone Metabolism and Diseases
- Genomics and Chromatin Dynamics
- Folate and B Vitamins Research
AstraZeneca (United States)
2023-2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2015-2024
Universidade de São Paulo
2015-2024
Komatsu (Japan)
2024
SEGi University
2024
Case Western Reserve University
2020-2023
MetroHealth Medical Center
2020-2023
University of California System
2020-2023
Vertex Pharmaceuticals (United States)
2023
The University of Western Australia
2022
The rate and extent of the agonist-dependent phosphorylation β 2 -adrenergic receptors rhodopsin by β-adrenergic receptor kinase (βARK) are markedly enhanced on addition G protein βγ subunits. With a model peptide substrate it was demonstrated that direct activation could not account for this effect. subunits were shown to interact directly with COOH-terminal region βARK, formation βARK-βγ complex resulted in receptor-facilitated membrane localization enzyme. transducin less effective at...
Context: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue, resulting in severe dyslipidemia and insulin resistance. In most reported cases, BSCL due to alterations either seipin, unknown function, or 1-acylglycerol-3-phosphate acyltransferase-β (AGPAT2), which catalyzes the formation phosphatidic acid. Objective: We sought determine genetic origin unexplained cases BSCL. thus sequenced CAV1, encoding caveolin-1, as...
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs single study uniform array platform computational process. have catalogued characterized 54,462 individual CNVs, 77.8% which were identified multiple unrelated individuals. These nonunique mapped to 3272 distinct regions genomic...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. These three share several features, including the presence of bioinformatics-predicted prion domain, aggregation–prone nature vitro vivo toxic effects when expressed multiple model systems. Given these commonalities, we hypothesized that protein, EWSR1 (Ewing sarcoma breakpoint region 1), might also...
Activating mutations in the neuroblastoma rat sarcoma viral oncogene homolog (NRAS) gene are common genetic events malignant melanoma being found 15–25% of cases. NRAS is thought to activate both mitogen activated protein kinase (MAPK) and PI3K signaling cells. We studied influence different components on MAP/extracellular signal-regulated (ERK) (MEK) PI3K/mammalian target rapamycin (mTOR)-signaling cascade mutant In general, these cells were more sensitive MEK inhibition compared with...
<h3>Background</h3> Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% cases. The identification novel associated with has become increasingly challenging, since they might be responsible very small fractions <h3>Methods</h3> A cohort 50 Brazilian probands negative was tested through whole-exome sequencing along...
Leptin is a powerful inhibitor of bone formation in vivo . This antiosteogenic function involves leptin binding to its receptors on ventromedial hypothalamic neurons, the autonomous nervous system and β-adrenergic osteoblasts. However, mechanisms whereby controls neurons remain unclear. In this study, we compared ability regulate body weight mass show that anorexigenic functions are affected by similar amounts leptin. Using knock-in LacZ locus, failed detect any synthesis central system....
Abstract Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal Brazil. An uncertain number these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug first trimester gestation without success. The presented with limb defects 4 them diagnosis Möbius sequence was made. © 1993 Wiley‐Liss, Inc.
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one lysosomal enzymes involved in glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to accumulation GAG various organs and tissues affected patients, resulting a multisystemic clinical picture, sometimes including cognitive impairment. Until beginning XXI century, treatment was mainly supportive. Bone marrow transplantation improved natural course disease some types MPS, but morbidity...
The breakpoints and mechanisms of ring chromosome formation were studied mapped in 14 patients. Several techniques performed such as genome-wide array, MLPA (Multiplex Ligation-Dependent Probe Amplification) FISH (Fluorescent situ Hybridization). chromosomes patients I to XIV determined be, respectively: r(3)(p26.1q29), r(4)(p16.3q35.2), r(10)(p15.3q26.2), r(10)(p15.3q26.13), r(13)(p13q31.1), r(13)(p13q34), r(14)(p13q32.33), r(15)(p13q26.2), r(18)(p11.32q22.2), r(18)(p11.32q21.33),...