A5046246342- Pulmonary Hypertension Research and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Counseling, Therapy, and Family Dynamics
- Nuclear Receptors and Signaling
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Vascular Anomalies and Treatments
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Hemophilia Treatment and Research
- Psychotherapy Techniques and Applications
- Platelet Disorders and Treatments
- Neurological disorders and treatments
- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Blood Coagulation and Thrombosis Mechanisms
- Medical Imaging and Pathology Studies
- Cardiovascular Issues in Pregnancy
- Counseling Practices and Supervision
- Attachment and Relationship Dynamics
- RNA modifications and cancer
- Blood groups and transfusion
- RNA regulation and disease
Cincinnati Children's Hospital Medical Center
2016-2025
University of Cincinnati
2016-2025
University of Cincinnati Medical Center
2015-2025
University of Arizona
2022
Columbia University
2021
University of Mississippi Medical Center
2019
Jackson Memorial Hospital
2019
Children's Medical Center
2019
Center for Human Genetics
2018
Regeneron (United States)
2018
Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of transforming growth factor β (TGF-β) superfamily receptors. Because hereditary hemorrhagic telangiectasia may lung disease that is indistinguishable from hypertension, we investigated genetic basis these patients.
A most lucid and comprehensive introduction to Kleinian theories from one of the leading contemporary analysts, including new chapters on her early work technique. This is a reprint revised enlarged edition, where author has added important Melanie Klein's technique, as well complete chronological list publications.
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of GBA carriers due to a loss glucocerebrosidase enzymatic activity. We measured activity dried blood spots patients (n = 517) and controls 252) without mutations. Participants were recruited from Columbia University, New York, fully sequenced for genotyped LRRK2 G2019S mutation, most common autosomal dominant mutation Ashkenazi Jewish...
Before the introduction of tamoxifen, diethylstilbestrol (DES) was widely considered to be hormonal treatment choice in postmenopausal women with advanced breast cancer. We performed a randomized clinical trial these two agents determine their relative efficacy and toxicity. The involved 143 evaluable patients, whom 99 had received no prior systemic therapy 44 previous chemotherapy. regression rates (complete plus partial) were higher patients receiving DES (41 per cent) than those tamoxifen...
Information on age-specific risk for Parkinson disease (PD) in patients with Gaucher (GD) and glucocerebrosidase (GBA) heterozygotes is important understanding the pathophysiology of genetic association counseling these populations.
Vascular inflammation regulates endothelial pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulated lysosomal activity and cholesterol metabolism activate pathogenic inflammation, but their relevance to PAH is unclear. Nuclear receptor coactivator 7 ( NCOA7 ) deficiency endothelium produced an oxysterol bile acid signature through dysregulation, promoting pathophenotypes. This overlapped with a plasma metabolite associated human mortality. Mice deficient for...
Abstract In vitro regulation of granulocytic proliferation and differentiation was analyzed by study marrow colony-forming capacity (CFC) peripheral white-cell provision colony-stimulating activity (CSA) in patients with acute myeloid leukemia (AML) preleukemia. Patients AML relapse had abnormal CFC, producing either no or excessive numbers abortive colonies. Furthermore, their leukocytes lacked ability to provide CSA. During complete remission, both these indexes were normal. Sequential...
Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) BMPR2 coding sequence mutations. However, direct sequencing does not detect other types heterozygous mutations, such as exonic deletions/duplications.To estimate the frequency deletions/duplications in FPAH.BMPR2 mRNA from lymphoblastoid cell lines 30 families PAH and 14 idiopathic (IPAH) was subjected to reverse transcriptase-polymerase chain reaction (RT-PCR) sequencing....
The vast majority of the parkin mutations previously identified have been found in individuals with juvenile or early onset PD. Previous screening later PD cohorts has not substantial numbers mutations. Families at least two siblings were ascertained to identify genes contributing susceptibility. Screening gene, by both quantitative PCR and exon sequencing, was performed those families either (age < =50 years) positive lod score a marker intron 7 gene. A total 25 different gene 103 from 47...
<b>Objective:</b> To characterize sequence variation within the glucocerebrosidase (<i>GBA</i>) gene in a select subset of our sample patients with familial Parkinson disease (PD) and then to test full whether these variants increased risk for PD were associated an earlier onset disease. <b>Methods:</b> We performed comprehensive study all <i>GBA</i> exons one patient from each 96 families, selected based on family-specific lod scores at locus. Identified subsequently screened 1325 cases 566...