A5012602922- Metabolism and Genetic Disorders
- Protein Tyrosine Phosphatases
- Folate and B Vitamins Research
- RNA modifications and cancer
- Galectins and Cancer Biology
- Alcoholism and Thiamine Deficiency
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- Pancreatic function and diabetes
- Neurological and metabolic disorders
- RNA Research and Splicing
- Cellular transport and secretion
- Cancer-related gene regulation
- RNA and protein synthesis mechanisms
- Glycosylation and Glycoproteins Research
- Congenital Heart Disease Studies
- Birth, Development, and Health
- Epigenetics and DNA Methylation
- Peptidase Inhibition and Analysis
- Pediatric Urology and Nephrology Studies
- RNA regulation and disease
- Ion Transport and Channel Regulation
- Amino Acid Enzymes and Metabolism
- Genomics and Rare Diseases
- Pharmaceutical studies and practices
Icahn School of Medicine at Mount Sinai
2009-2025
Jikei University School of Medicine
1999-2025
Mount Sinai Hospital
2020
In-Q-Tel
2016
Pediatrics and Genetics
2008-2014
Abramson Cancer Center
2007
Kurume University
1995
Missense mutations in the PTPN11 gene, which encodes protein tyrosine phosphatase SHP-2, cause clinically similar but distinctive disorders, LEOPARD (LS) and Noonan (NS) syndromes. The LS is an autosomal dominant disorder with pleomorphic developmental abnormalities including lentigines, cardiac defects, short stature deafness. Biochemical analyses indicated that alleles engender loss-of-function (LOF) effects, while NS result gain-of-function (GOF). These biochemical findings lead to enigma...
Hypophosphatasia (HPP) is a congenital skeletal dysplasia. Enzyme replacement therapy (ERT) improves survival and bone mineralization of patients with perinatal severe HPP. However, there are few reports ERT in benign HPP, its long-term efficacy remains unclear. Herein, we report the case boy HPP who was initiated on early asfotase alpha. The patient suspected having because shortened limbs deformed long bones fetal 3D-CT. He diagnosed based clinical manifestations, low serum alkaline...
Abstract Background Kawasaki disease (KD) is an acute vasculitis that causes coronary artery lesions. This study aimed to identify risk factors for the early prediction of (CAD) in KD. Methods We conducted a retrospective analysis 175 Japanese children diagnosed with KD between January 2019 and March 2024. Univariate multivariate logistic regression analyses were performed predictors CAD, diagnostic performance various indicators was assessed using receiver operating characteristic (ROC)...
Thiamin-responsive megaloblastic anemia syndrome (TRMA) is characterized by diabetes mellitus, and sensorineural deafness. Mutations in the thiamin transporter gene SLC19A2 cause TRMA. To generate a mouse model of TRMA, we developed an Slc19a2 targeting construct using transposon-mediated mutagenesis disrupted through homologous recombination embryonic stem cells. Erythrocytes from Slc19a2(-/-) mice lacked high-affinity component transport. On thiamin-free diet, mellitus with reduced insulin...
Mutations in the PTPN11 gene, which encodes protein tyrosine phosphatase SHP-2, causes Noonan syndrome (NS), an autosomal dominant disorder with pleomorphic developmental abnormalities. Certain germline and somatic mutations cause leukemias. have gain-of-function (GOF) effects commonest NS allele, N308D, being weaker than leukemia-causing mutations. To study of disease-associated alleles, we generated transgenic fruitflies GAL4-inducible expression wild-type or mutant csw, Drosophila...
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, autism de novo heterozygous frameshift, nonsense, splice, missense variants in the Early B-cell Transcription Factor Family Member 3 ( EBF3 ) gene. is a member collier/olfactory-1/early factor (COE) family proteins, which are required for central nervous system (CNS) development. COE proteins...
The family of Ap2 transcription factors comprises five members with highly conserved DNA-binding domains. Among the members, Ap2delta is most divergent, because it lacks residues within transactivation domain (TAD) and has weak affinity for known binding sites. To identify specific coactivators/regulators during development, we performed a yeast two-hybrid screen, using Ap2delta's TAD. We identified trithorax superfamily member, Ash2l, as partner that interacts exclusively Ap2delta. showed...
The Ashkenazi Jewish ( AJ ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease‐causing mutations have been identified well‐characterized, but others, further study is necessary. purpose this assess carrier frequencies 85 pathogenic variants causative 29 conditions in population. Up 3000 individuals were genotyped by Luminex MagPlex ® ‐ TAG ™ bead array or Agena Bioscience MassARRAY assays. We seven...
RBM10, is an RNA binding protein that important for development by regulating the expression of multiple genes. RBM10 on X chromosome, and nonsense frameshift variants cause TARP syndrome in males. In a 4-year-old male, we identified novel maternally inherited missense variant RRM2 domain, c.965C>T, p.Pro322Leu. His clinical features included intellectual disability, developmental delay, growth restriction, hypotonia, craniofacial malformations. These were much milder than those described...