A5063553127- Ion Transport and Channel Regulation
- Renal function and acid-base balance
- Ion channel regulation and function
- Dialysis and Renal Disease Management
- Genomics and Chromatin Dynamics
- Pancreatic function and diabetes
- Chronic Kidney Disease and Diabetes
- Renal Transplantation Outcomes and Treatments
- Pharmacological Effects and Toxicity Studies
- Kidney Stones and Urolithiasis Treatments
- RNA Research and Splicing
- Diet and metabolism studies
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Poisoning and overdose treatments
- Genetics and Neurodevelopmental Disorders
- Parathyroid Disorders and Treatments
- Cancer Diagnosis and Treatment
- Dermatology and Skin Diseases
- Electrolyte and hormonal disorders
- Hormonal and reproductive studies
- Cancer and Skin Lesions
- Potassium and Related Disorders
- Medical Imaging and Pathology Studies
- Acute Kidney Injury Research
Baylor University Medical Center
2005-2025
Bryan College
2021
Texas A&M Health Science Center
2018-2020
Dallas Nephrology Associates
2005-2020
University of Texas Health Science Center at Dallas
2020
University of Lausanne
2013-2019
Kantonsspital Aarau
2010
Rutgers, The State University of New Jersey
2002-2009
The University of Texas Southwestern Medical Center
1996-2006
VA Puget Sound Health Care System
2006
Although cardiovascular disease is a major cause of morbidity and mortality after renal transplantation, its pathogenesis treatment are poorly understood. We conducted separate analyses risk factors for ischemic heart disease, cerebral, peripheral vascular 706 transplants, all which functioned at least 6 months. used Cox proportional hazards analysis to examine the effects multiple pretransplant posttransplant included time-dependent variables measured 3, 6, 12 months, annually last...
DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between and genetic control of regulation, we quantified allelic variability transcription factor binding, histone modifications, expression within humans. We found abundant specificity extensive local, short-range, long-range coordination among studied phenotypes. observed influence most...
Chromatin state variation at gene regulatory elements is abundant across individuals, yet we understand little about the genetic basis of this variability. Here, profiled several histone modifications, transcription factor (TF) PU.1, RNA polymerase II, and expression in lymphoblastoid cell lines from 47 whole-genome sequenced individuals. We observed that distinct cis-regulatory exhibit coordinated chromatin individuals form variable modules (VCMs) sub-Mb scale. VCMs were associated with...
Noncoding variation and gene expression Natural genetic outside of protein coding regions affects multiple molecular phenotypes that can differ across individuals. To examine how genomic proximal (cis) or distal (trans) regulation, Delaneau et al. analyzed expression, chromatin, the three-dimensional conformation genome. Clustering regulatory elements activity individuals reveals structures termed cis-regulatory domains trans-regulatory hubs affect expression. Associations between these...
Regulation of the renal Na/H exchanger NHE-3 by protein kinase A (PKA) is a key intermediate step in hormonal regulation acid-base and salt balance. We studied role phosphorylation this process NHE-deficient AP-1 cells transfected with OKP expressing native NHE-3. dominant-negative PKA-regulatory subunit completely abolished effect cAMP on activity demonstrating PKA functional cAMP. isolated from cAMP-treated showed lower purified PKAin vitro suggesting that substrate vivo. Although changes...
Parathyroid hormone (PTH) is a potent inhibitor of mammalian renal proximal tubule Na(+) transport via its action on the apical membrane Na(+)/H(+) exchanger NHE3. In opossum kidney cell line, inhibition NHE3 activity was detected from 5 to 45 min after PTH addition. Increase in phosphorylation multiple serines evident PTH, but decrease surface antigen not detectable until 30 PTH. The due increased endocytosis. When endocytic trafficking arrested with dominant negative dynamin mutant (K44A),...
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function missense variants in <i>KIAA1109</i> allowing delineation an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics this combine brain atrophy clubfoot arthrogryposis. Affected present cerebral parenchymal...
The phenotype of a mutation often differs across genetically distinct individuals. In the most extreme case, gene can be essential for viability in one genetic background, but dispensable another. Although context-dependency mutant phenotypes is frequently observed, underlying causes remain elusive. Here, we investigated changes responsible differences essentiality 18 diverse natural yeast strains. First, identified 39 genes that were laboratory reference strain not required at least other...
Parathyroid hormone (PTH) is a potent inhibitor of mammalian renal proximal tubule sodium absorption via suppression the apical membrane Na/H exchanger (NHE-3). We examined mechanisms by which PTH inhibits NHE-3 activity giving an acute intravenous bolus to parathyroidectomized rats. Parathyroidectomy per se increased and antigen. Acute infusion caused time-dependent decrease in as early 30 min. Decrease at 60 min was accompanied phosphorylation. In contrast rapid changes phosphorylation,...
Acute hormonal modulation of NHE3 activity is partly mediated by kinases, including protein kinase C (PKC). We examined the role phosphorylation in regulating its response to PKC activation phorbol 12-myristate 13-acetate (PMA). In pooled NHE-deficient fibroblasts transfected with NHE3, PMA increased and phosphorylation. When six potential target serines were mutated, was drastically reduced failed regulate or function. To examine whether sufficient for functional regulation PKC, we...
Patiromer is a novel potassium-binding compound which has recently received FDA approval. This ion exchange resin releases calcium when it binds potassium. We describe the development of hypercalcemia after initiation patiromer. The levels fell drug was stopped but recurred later resumed. again discontinued, and serum level back into normal range. believe this patient manifested patiromer-induced hypercalcemia.
Background. Breast cancer is the most common in women. Its involvement of skin frequent visceral cancers In cutaneous metastatic disease, including breast cancer, clinical and histologic pattern may be specific or nonspecific. Specific patterns disease are linked with but occur less often other to skin. Likewise, Objective. To present a case mucinous where similar primary tumor. Methods. This report literature review. Results. Metastatic rarely resemble this carcinoma We describe 60-year-old...
Longstanding, severe hyperparathyroidism (HPT) can lead to the formation of "brown tumors". A brown tumor is a radiolucent bone lesion that locally destructive; it not neoplasm, but rather stromal mass consisting fibrous tissue, poorly mineralized woven bone, and supporting vasculature. These tumors are rare complication advanced primary or secondary HPT. We present young female with chronic kidney disease (CKD) on hemodialysis uncontrolled HPT (SHPT). The patient presented progressive lower...
Cervical cancer is a major cause of morbidity and mortality in women. The presence macrophages as well other inflammatory cells has been noted many these tumors. Intratumoral macrophages/monocytes induce anergy to cytokine therapy apoptosis natural killer(NK) T cells. aim this study was better evaluate quantify the Twenty-four cases squamous cell carcinoma cervix seen at our institution were evaluated. Sections stained with CD68, marker for macrophages. Staining graded microscopically by two...
Summary Genome-wide studies on the genetic basis of gene expression and structural properties chromatin have considerably advanced our understanding function human genome. However, it remains unclear how structure relates to and, in this work, we aim at bridging both by assembling a dataset that combines activity regulatory elements (e.g. enhancers promoters), genes variations 317 individuals across two cell types. We show is structured within 12,583 Cis Regulatory Domains (CRDs) are type...