A5023289506- CAR-T cell therapy research
- Glioma Diagnosis and Treatment
- Lipoproteins and Cardiovascular Health
- Congenital heart defects research
- Plant Molecular Biology Research
- Immunotherapy and Immune Responses
- Photosynthetic Processes and Mechanisms
- Pharmacological Effects and Toxicity Studies
- Pregnancy and Medication Impact
- Mobile Health and mHealth Applications
- Acute Lymphoblastic Leukemia research
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Cancer survivorship and care
- RNA modifications and cancer
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Genomics and Rare Diseases
- Health Systems, Economic Evaluations, Quality of Life
- Medication Adherence and Compliance
- Ubiquitin and proteasome pathways
- Down syndrome and intellectual disability research
- Light effects on plants
- Cancer, Lipids, and Metabolism
- Growth Hormone and Insulin-like Growth Factors
- Nanowire Synthesis and Applications
Stanford University
2021-2024
Stanford Medicine
2024
Acuitas Therapeutics (Canada)
2024
Palo Alto University
2021-2023
NeuroDevelopment Center
2021-2023
University of Massachusetts Chan Medical School
2022
The Ohio State University
2018-2020
Bayer (United States)
2017-2018
Rutgers, The State University of New Jersey
2018
Boston Children's Hospital
2013-2017
Abstract Diffuse intrinsic pontine glioma (DIPG) and other H3K27M-mutated diffuse midline gliomas (DMGs) are universally lethal paediatric tumours of the central nervous system 1 . We have previously shown that disialoganglioside GD2 is highly expressed on cells demonstrated promising preclinical efficacy GD2-directed chimeric antigen receptor (CAR) T 2 , providing rationale for a first-in-human phase I clinical trial (NCT04196413). Because CAR cell-induced brainstem inflammation can result...
Plants depend on light signals to modulate many aspects of their development and optimize photosynthetic capacity. Phytochromes (phys), a family photoreceptors, initiate signal transduction pathway that alters expression large number genes induce these responses. Recently, phyA phyB were shown bind members basic helix-loop-helix transcription factors called phy-interacting (PIFs). PIF1 negatively regulates chlorophyll biosynthesis seed germination in the dark, light-induced degradation...
Summary Light signals perceived by the phytochrome (phy) family of sensory photoreceptors control multiple aspects plant development. Recently, PIF1, a phy‐interacting basic helix‐loop‐helix (bHLH) transcription factor, has been shown to negatively regulate facets photomorphogenesis seedlings. Moreover, transcriptional activation activity PIF1 is reduced in phy‐dependent manner. In this study we use luciferase (LUC) LUC–PIF1 fusion protein as an indicator stability various light conditions....
To examine outcomes at age 4.5 years and compare to earlier ages in children with fetal antiepileptic drug (AED) exposure.The NEAD Study is an ongoing prospective observational multicenter study, which enrolled pregnant women epilepsy on AED monotherapy (1999-2004) determine if differential long-term neurodevelopmental effects exist across 4 commonly used AEDs (carbamazepine, lamotrigine, phenytoin, or valproate). The primary outcome IQ 6 of age. Planned analyses were conducted using Bayley...
Based on the observation of reduced stature in relatives patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations natriuretic peptide receptor-B gene (NPR2), it has been suggested that this could be responsible for growth impairment observed some cases idiopathic short (ISS). We enrolled 192 unrelated and controls normal height identified seven NPR2 missense splice site all patients, including one de novo variant. Three six...
H3K27M-mutant diffuse midline gliomas (DMGs) express high levels of the disialoganglioside GD2 (ref. 1). Chimeric antigen receptor-modified T cells targeting (GD2-CART) eradicated DMGs in preclinical models2. Arm A Phase I trial no. NCT04196413 3) administered one intravenous (IV) dose autologous GD2-CART to patients with pontine (DIPG) or spinal DMG (sDMG) at two (DL1, 1 × 106 kg−1; DL2, 3 kg−1) following lymphodepleting chemotherapy. Patients clinical imaging benefit were eligible for...
Background/Aims: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, most patients, no cause the short can be identified. As genetics plays strong role in height, we sought identify known and novel genetic causes of stature. Methods: We recruited 14 children with severe unknown etiology. conducted whole exome sequencing patients their family members. used an analysis pipeline rare non-synonymous variants that Results: identified 5 patients. This...
The majority of patients presenting with short stature do not receive a definitive diagnosis. Advances in genetic sequencing allow for large-scale screening candidate genes, potentially leading to diagnoses. purpose this study was discover variants that contribute cohort children no known etiology. This prospective subjects stature. setting pediatric endocrinology and genetics clinics at an academic center. A total 192 defined etiology individuals normal from the Framingham Heart Study were...
Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which restriction evident utero and continues into postnatal life. Single causative gene defects have been identified number patients with MPD, all involve genes fundamental to cellular processes including centrosome functions. The objective the study was find genetic etiology novel presentation MPD. design whole-exome sequencing performed on two affected sisters single family. Molecular functional...
Chimeric antigen receptor (CAR) T cells targeting CD22 (CD22-CAR) provide a therapeutic option for patients with
To assess the relative roles of neural and nonneural mechanisms in respiratory sinus arrhythmia (RSA) at rest during exercise (steady-state supine cycle ergometry 25% peak oxygen uptake), we studied 10 healthy men (mean age 21 +/- 1 yr) before (control) ganglion blockade (GB) with trimetaphan camsylate (3-5 mg/min i.v.). GB was confirmed by abolition reflex bradycardia response to intravenous phenylephrine blood pressure rise cold pressor test. RSA calculated from power spectral component...
Abstract Regulated protein degradation contributes to plant development by mediating signaling events in many hormone, light, and developmental pathways. Ubiquitin ligases recognize ubiquitinate target proteins for subsequent the 26S proteasome. The multisubunit SCF is best-studied class of ubiquitin Arabidopsis (Arabidopsis thaliana). However, extent participation networks unclear. SCFs are composed four subunits: CULLIN 1 (CUL1), ASK, RBX1, an F-box protein. Null mutations CUL1 embryo...
Short stature is a common reason for referral to pediatric endocrinology centers. Frequently, the underlying etiology of short unknown, resulting in diagnosis idiopathic stature. Rare genetic defects GH/IGF-1 axis have been found cause stature.The objective this study was identify patient with Idiopathic Stature and review clinical presentation patients IGF1, specifically IGF-1 haploinsufficiency.The index evaluated at an academic medical center, DNA obtained from proband both...
This study tested the feasibility and efficacy of using a text-based intervention to increase initiation, decrease discontinuation, improve adherence as prescribed adjuvant hormone therapy (AHT) among hyphenate post-menopausal breast cancer survivors.The 3-month consisted daily text message reminders take medication, coupled with dynamic (eg, feedback on progress) tailored weekly interactive surveys delivered by smartphone app. Five clinic sites within Alliance for Clinical Trials in...
Increasing student body diversity is a priority for national health education and professional organizations many medical schools. However, rankings of schools, such as those published by U.S. News & World Report, place heavy emphasis on grade point average (GPA) Medical College Admissions Test (MCAT) scores, without considering diversity. These affect organizational reputation admissions outcomes, even though there considerable controversy surrounding the predictive value GPA MCAT...
Abstract Prime editing is a versatile genome technology that does not rely on DNA double-strand break formation and homology-directed repair (HDR). This makes it promising tool for correcting pathogenic mutations in tissues consisting predominantly of postmitotic cells, such as the liver. While recent studies have already demonstrated proof-of-concept vivo prime editing, use viral delivery vectors resulted prolonged editor (PE) expression, posing challenges clinical application. Here, we...
H3K27M-mutant diffuse midline gliomas (DMGs) express high levels of the GD2 disialoganglioside and chimeric antigen receptor modified T-cells targeting (GD2-CART) eradicate DMGs in preclinical models. Arm A Phase I trial NCT04196413 administered one IV dose autologous GD2-CART to patients with pontine (DIPG) or spinal (sDMG) glioma at two (DL1=1e6/kg; DL2=3e6/kg) following lymphodepleting (LD) chemotherapy. Patients clinical imaging benefit were eligible for subsequent...
Recent data from mainly homogeneous European and African populations implicate a 140-bp region 5' to the transcriptional start site of LCT (the lactase gene) as regulatory for persistence nonpersistence. Because there are no studies US nonhomogeneous populations, we performed genotype/phenotype analysis -13910 -22018 single nucleotide polymorphisms (SNPs) in New England children, mostly ancestry.Duodenal biopsies were processed disaccharidase activities, RNA quantification by reverse...