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Nipt Results Indicative Of Maternal Neoplasms: Genetic Counselors' Preferences And Attitudes, Meagan E. Giles May 2016

Nipt Results Indicative Of Maternal Neoplasms: Genetic Counselors' Preferences And Attitudes, Meagan E. Giles

Dissertations and Theses (Open Access)

Performing non-invasive prenatal testing (NIPT) on a pregnant woman with a chromosomally abnormal neoplasm may incidentally lead to the diagnosis of cancer due to the coexistence of circulating tumor and placental DNA. Published information regarding NIPT’s accuracy for neoplasm screening is limited, and guidance for patient management is currently lacking. This challenges clinicians’ ability to counsel patients regarding the implications of these results, which often is the responsibility of a genetic counselor. Over three hundred board-eligible/certified genetic counselors were surveyed regarding their awareness, preferences, and attitudes towards NIPT’s ability to indicate maternal neoplasms. Despite 95% of this cohort being aware …


The Role Of Amp-Activated Protein Kinase (Ampk) In Tumorigenesis, Fei Han May 2016

The Role Of Amp-Activated Protein Kinase (Ampk) In Tumorigenesis, Fei Han

Dissertations and Theses (Open Access)

AMPK plays a central role in controlling cellular and whole body energy level. Increasing studies have also discovered the diverse function of AMPK in cancer, such as autophagy and mitochondria biogenesis. However, how AMPK promotes cancer progression is still not clear. Here, we show that AMPK is essential for EGF-induced Akt activation, Glut1 expression, and glucose uptake. AMPK is also required for various stresses induced Akt activation and promote cell survival, including hypoxia and glucose deprivation. In addition, we found glucose deprivation-induced VEGF expression and secretion is also depend on AMPK, which may contribute to angiogenesis of surrounding endothelial cell …


The Role Of Gdf15 In Ovarian Cancer, Daisy I. Izaguirre May 2016

The Role Of Gdf15 In Ovarian Cancer, Daisy I. Izaguirre

Dissertations and Theses (Open Access)

Growth Differentiation Factor 15 (GDF15) is induced in situations such as stress, inflammation, treatment with non-steroidal anti-inflammatory drugs, as well as other therapeutic agents. As a secreted protein, GDF15 is seen as a potential biomarker in several types of cancer as well as in other diseases such as cardiovascular diseases, diabetes, and rheumatoid arthritis. In ovarian cancer, high GDF15 serum levels correspond to poor survival. It has further been shown to be expressed at higher levels in serum in ovarian cancer patients post-chemotherapy than pre-chemotherapy.

The overall 5-year survival for ovarian cancer is 46%, as a result of late diagnosis …


Organization And Regulation Of Proteins Required For Initiation Of Cell Division In Escherichia Coli, Veronica W. Rowlett May 2016

Organization And Regulation Of Proteins Required For Initiation Of Cell Division In Escherichia Coli, Veronica W. Rowlett

Dissertations and Theses (Open Access)

The process of bacterial cell division relies on the assembly of multiple proteins to form the cell division machine, or “divisome.” FtsZ, a bacterial homolog of eukaryotic tubulin, forms a ring-like structure, the “Z ring,” at midcell and serves as a scaffold for divisome assembly and potential force generator during synthesis of the division septum. Both FtsA, a bacterial homolog of eukaryotic actin, and ZipA, a single-pass transmembrane protein, anchor the Z ring to the inner membrane, are required for the localization of other divisome proteins to midcell, and likely influence the assembly state of FtsZ. Positioning of the Z …


Preeclampsia: The Roles Of Acute Inflammation And Intrauterine Stress, Nicholas Parchim May 2016

Preeclampsia: The Roles Of Acute Inflammation And Intrauterine Stress, Nicholas Parchim

Dissertations and Theses (Open Access)

Preeclampsia (PE) is a severe, acute disease of pregnancy affecting approximately 8% of pregnant women after week 20 of gestation. PE is characterized by hypertension and renal damage reflected by proteinuria and has significant morbidity to both mother and fetus. Maternal symptoms range from headaches, nausea, edema, to visual changes, but once maternal symptoms present, damage to the fetus has begun. Mothers who progress untreated through the disease can also experience a condition called eclampsia characterized by seizure, coma, and, ultimately, death. PE-affected newborns experience features similar to prematurity—abnormal lung and renal development, intrauterine growth retardation (IUGR), and, possibly, fetal …


The Novel Regulation Of Histone Modification In Cancer Development, Xian Zhang May 2016

The Novel Regulation Of Histone Modification In Cancer Development, Xian Zhang

Dissertations and Theses (Open Access)

Dynamic changes in histone acetylation by various physiological cues play important roles in gene transcription and cancer. However, the cellular signaling underlying this regulation is not well understood. Here, we show that, in a glucose dependent manner, E3 ubiquitin ligase NEDD4 ubiquitinates histone H3 on previously unstudied lysine (K) 23/36/37 residues, which specifically recruits histone acetyltransferase (HAT) GCN5 for subsequent H3 acetylation. Genome-wide analysis of chromatin immunoprecipitation followed by sequencing (ChIP-seq) data sets reveals that NEDD4 regulates glucose-induced H3K9 acetylation at transcription starting site (TSS) and enhancer regions. Integrative analysis of ChIP-seq and microarray data sets also reveals a consistent …


Characterization Of The Ato Gene Family In Alternative Carbon Metabolism, Heather A. Danhof May 2016

Characterization Of The Ato Gene Family In Alternative Carbon Metabolism, Heather A. Danhof

Dissertations and Theses (Open Access)

As a commensal colonizer and opportunistic pathogen, Candida albicans is the most clinically important human associated fungus. Systemic infection carries an unacceptably high mortality rate of ~40% in the growing population of immunocompromised individuals. Macrophages are important innate immune cells that limit the niches in the human body in which C. albicans can persist through phagocytic removal. However, following phagocytosis C. albicans readily escapes from the immune cell by differentiating into filamentous hyphae, a process that should be inhibited in the normally acidic phagolysosome. We have shown that C. albicans induces germination by neutralizing the phagolysosome. To better understand this …


The Notch Target Hes4 Promotes Osteosarcoma Tumor Growth And Metastasis By Inhibiting Osteogenic Differentiation, And Has Potential As A Prognostic Biomarker For Newly Diagnosed Patients With High Grade Osteosarcoma., Madonna Mcmanus May 2016

The Notch Target Hes4 Promotes Osteosarcoma Tumor Growth And Metastasis By Inhibiting Osteogenic Differentiation, And Has Potential As A Prognostic Biomarker For Newly Diagnosed Patients With High Grade Osteosarcoma., Madonna Mcmanus

Dissertations and Theses (Open Access)

Currently, there are no well-established prognostic biomarkers for osteosarcoma (OS) at the time of diagnosis. Although response to preoperative chemotherapy correlates with metastasis risk and overall survival, this information is obtained 3-4 months after the initial diagnosis. The major purpose of this study is to identify clinically relevant biomarkers that will allow for the stratification of patients into good or poor responders to chemotherapy at diagnosis. We also aim to understand the biology of these markers in OS pathogenesis. Because the development of OS is caused by genetic disruptions of osteogenic differentiation, we sought to identify pathways that are involved …


Gsk3Beta-Mediated Ezh2 Phosphorylation Suppresses Methylation Of H3k27 And Ezh2’S Oncogenic Functions, How-Wen Ko May 2016

Gsk3Beta-Mediated Ezh2 Phosphorylation Suppresses Methylation Of H3k27 And Ezh2’S Oncogenic Functions, How-Wen Ko

Dissertations and Theses (Open Access)

During the process of tumorigenesis, inactivation of tumor suppressors is a critical step. Enhancer of zeste homolog 2 (EZH2), a histone methyltransferase and the enzymatic core subunit of polycomb repressive complex 2 (PRC2), promotes cell growth and migration through catalyzing trimethylation of histone H3 at Lys 27 (H3K27me3) and plays an important role in tumorigenesis. Its expression can be controlled by phosphorylation. However, the regulation of EZH2 activity by tumor suppressor kinase is not well understood. Glycogen synthase kinase 3 beta (GSK3b), a multifunctional serine/threonine kinase, is involved in many cellular processes. GSK3b also participates in neoplastic transformation, tumor development …


In Vivo Kinome Screen Reveals Non-Canonical Cdk-Driven Metabolic Adaptation In Brain Metastasis, Frank J. Lowery Iii May 2016

In Vivo Kinome Screen Reveals Non-Canonical Cdk-Driven Metabolic Adaptation In Brain Metastasis, Frank J. Lowery Iii

Dissertations and Theses (Open Access)

Brain metastasis, which frequently arises from breast cancer, lung cancer, melanoma, and colorectal cancer, remains a severely unmet medical need and its incidence continues to rise while treatment options remain palliative. To better understand the biology underlying its aggressive, incurable nature, I performed an unbiased in vivo kinome screen to identify potential driver kinases of experimental brain metastasis in a nude xenograft model using the human breast cancer cell line MDA-MB-231. Several of the kinase pools led to decreased brain metastasis-specific survival in nude mice, shortening survival time by up to 50% relative to controls. Targeted next-generation sequencing (NGS) was …


Clinical And Demographic Variables Associated With Cognitive Deficits, Symptom Severity, And Duration After Concussive Injury In Adolescents: A Retrospective Study, Seema S. Aggarwal May 2016

Clinical And Demographic Variables Associated With Cognitive Deficits, Symptom Severity, And Duration After Concussive Injury In Adolescents: A Retrospective Study, Seema S. Aggarwal

Dissertations and Theses (Open Access)

Background: Concussions in adolescents are a public health concern with the growing popularity of high school sports. Recent legislation mandates that athletes who are suspected of a concussion be cleared to return-to-play by a clinician. More research is needed to develop a concussion predictive model to identify populations at risk for more severe and prolonged symptoms and long-term neurologic deficits.

Aims: The aims of this study were to (1) examine the effect of race and gender on neurocognitive and symptom scores and (2) determine which clinical (e.g., number of concussions, migraine history, learning disabilities/ attention deficit disorders) and demographic factors …


Biventricular Myocardial Performance Is Impaired In Proportion To Severity Of Obstructive Sleep Apnea, Selahattin Akyol, Mustafa Cortuk, Ahmet Oytun Baykan, Kemal Kiraz, Abdurrezzak Borekci, Taner Seker, Mustafa Gur, Murat Cayli Apr 2016

Biventricular Myocardial Performance Is Impaired In Proportion To Severity Of Obstructive Sleep Apnea, Selahattin Akyol, Mustafa Cortuk, Ahmet Oytun Baykan, Kemal Kiraz, Abdurrezzak Borekci, Taner Seker, Mustafa Gur, Murat Cayli

The Texas Heart Institute Journal

Obstructive sleep apnea (OSA) is an independent risk factor for cardiovascular morbidity and death. Little information is available regarding the relationship between the severity of OSA and myocardial performance in OSA patients who have normal ejection fractions. We prospectively investigated this relationship, using the tissue-Doppler myocardial performance index (TD-MPI).

We conducted overnight, full-laboratory polysomnographic examinations of 116 patients, and calculated the left and right ventricular TD-MPIs. Patients were classified into 3 groups in accordance with their apnea-hypopnea index (AHI) levels: AHImild (≥5 to <15), AHImoderate (≥15 to <30), and AHIsevere (≥30).

Left and right ventricular TD-MPI values were higher in the AHIsevere group than in the AHImild and …


Advancing A Guiding Catheter Across A Mechanical Aortic Valve, Wassim Shatila, Guilherme V Silva Apr 2016

Advancing A Guiding Catheter Across A Mechanical Aortic Valve, Wassim Shatila, Guilherme V Silva

The Texas Heart Institute Journal

No abstract provided.


Longitudinal Changes In Vascular Risk Markers And Mortality Rates Among A Latino Population With Hypertension, Matthew C Pflederer, Carlin S Long, Brenda Beaty, Edward P Havranek, Philip S Mehler, Angela Keniston, Mori J Krantz Apr 2016

Longitudinal Changes In Vascular Risk Markers And Mortality Rates Among A Latino Population With Hypertension, Matthew C Pflederer, Carlin S Long, Brenda Beaty, Edward P Havranek, Philip S Mehler, Angela Keniston, Mori J Krantz

The Texas Heart Institute Journal

Vascular markers such as pulse-wave velocity and carotid intima-media thickness (CIMT) might improve the prediction of incident cardiovascular disease beyond traditional risk factors. These vascular markers have not been well characterized in minority populations and might be more useful than inflammatory biomarkers. We conducted a prospective, longitudinal cohort study among hypertensive patients in an urban safety-net hospital. We evaluated inflammatory biomarkers, arterial pulse-wave velocity, and carotid intima-media thickness at baseline, 1 year, and 2 years. The primary outcome variable was CIMT. Generalized linear mixed-effects models were used to evaluate associations between CIMT and predictive variables accounting for the correlation of …


Cardiac Papillary Fibroelastoma: Single-Institution Experience With 14 Surgical Patients, Walid K Abu Saleh, Odeaa Al Jabbari, Basel Ramlawi, Michael J Reardon Apr 2016

Cardiac Papillary Fibroelastoma: Single-Institution Experience With 14 Surgical Patients, Walid K Abu Saleh, Odeaa Al Jabbari, Basel Ramlawi, Michael J Reardon

The Texas Heart Institute Journal

In general, treatment for symptomatic and asymptomatic cardiac papillary fibroelastoma is surgical resection-particularly of left-sided lesions, because of the risk of systemic embolization. However, few institutions have enough experience with these tumors to validate this approach. We present our institutional experience with papillary fibroelastoma and discuss our current approach. We searched our institution's cardiac tumor database, identified all patients diagnosed with cardiac papillary fibroelastoma from 1992 through 2014, and recorded the clinical and pathologic characteristics of each case. We found 14 patients (mean age, 60.5 ± 12.3 yr) who had 18 lesions. Eleven patients (79%) were symptomatic; however, we could …


Bioprosthetic Aortic Valve Endocarditis In Association With Enterococcus Durans, Luca Fallavollita, Lorena Di Gioacchino, Fabrizio Balestrini Apr 2016

Bioprosthetic Aortic Valve Endocarditis In Association With Enterococcus Durans, Luca Fallavollita, Lorena Di Gioacchino, Fabrizio Balestrini

The Texas Heart Institute Journal

Enterococci are common organisms associated with endocarditis, but infection by Enterococcus durans is very rare. To our knowledge, only 3 cases have been reported in the medical literature, and all 3 have involved native valves. Here we publish the first reported case (to our knowledge) of E. durans endocarditis in association with a bioprosthetic aortic valve. After the organism and its antibiotic susceptibility were identified, the 74-year-old male patient was treated successfully with teicoplanin and gentamicin, over a course of 6 weeks.


Comparison Of Interactive Voice Response (Ivr) With Paper Administration Of Instruments To Assess Functional Status, Sexual Function, And Quality Of Life In Elderly Men, Rc Rosen, Aj Stephens-Shields, Gr Cunningham, D Cifelli, D Cella, Jt Farrar, E Barrett-Connor, Ce Lewis, M Pahor, X Hou, Pj Snyder Apr 2016

Comparison Of Interactive Voice Response (Ivr) With Paper Administration Of Instruments To Assess Functional Status, Sexual Function, And Quality Of Life In Elderly Men, Rc Rosen, Aj Stephens-Shields, Gr Cunningham, D Cifelli, D Cella, Jt Farrar, E Barrett-Connor, Ce Lewis, M Pahor, X Hou, Pj Snyder

Faculty, Staff and Students Publications

PURPOSE: Patient-reported outcome (PRO) measures are essential for assessing subjective patient experiences. Interactive voice response (IVR) data collection provides advantages for clinical trial design by standardizing and centralizing the assessment. Prior to adoption of IVR as a mode of PRO administration in the Testosterone Trials (TTrials), we compared IVR to paper versions of the instruments to be used. METHODS: IVR versions of the FACIT-Fatigue scale and Psychosexual Daily Questionnaire, Question 4, were developed. In one pilot study, IVR versions of these scales were compared to paper versions in 25 men = 65 years at each of two clinical sites. In …


Ic 004 Guide To Harris County Medical Society Records, 1903-2008, Harris County Medical Society (Tex.) Mar 2016

Ic 004 Guide To Harris County Medical Society Records, 1903-2008, Harris County Medical Society (Tex.)

Institutional Finding Aids

Harris County Medical Society records consists of about 14 boxes and contains financial, newspaper clippings, audio discs, digital roster CD, photographs, bound copies of Physicians Newsletter, pictorial rosters that document the history of the Harris County Medical Society. See more at IC 004.


Need Help? Contact Your Liaison Librarians!, Beatriz Varman Mar 2016

Need Help? Contact Your Liaison Librarians!, Beatriz Varman

TMC Library Newsletter (2015-)

Need Help? Contact Your Liaison Librarians!


Ms171: Interview With Katie Mcgready, Katie Mcgready, Houston Academy Of Medicine-Texas Medical Center Library Mar 2016

Ms171: Interview With Katie Mcgready, Katie Mcgready, Houston Academy Of Medicine-Texas Medical Center Library

Texas Medical Center - Women's History Project

An oral history interview with Mary Catherine Bussey Boice (Katie) McGready, the first medical librarian in the Texas Medical Center, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Mary Catherine Bussey Boice “Katie” McGready became the first medical librarian in the Texas Medical Center when Dr. Ernst W. Bertner asked to her to begin the medical library at what was then the fledgling MD Anderson Cancer Center. She was among the first employees at the Cancer Center, then located at “The Oaks,” the estate of the late Colonel James A. Baker at 2310 Baldwin Street in Houston.

Born …


Ms171: Interview With Marianne Marcus, Marianne Marcus Edd, Rn, Houston Academy Of Medicine-Texas Medical Center Library Mar 2016

Ms171: Interview With Marianne Marcus, Marianne Marcus Edd, Rn, Houston Academy Of Medicine-Texas Medical Center Library

Texas Medical Center - Women's History Project

An oral history with Marianne Marcus, Professor Emerita at the University of Texas at Houston School of Nursing. Before she retired and assumed the title of Professor Emerita in 2104, Dr. Marcus chaired the UT Nursing School’s Department of Nursing Systems, directed its Master’s of Nursing Education degree track and directed its Center for Substance Abuse Prevention, Education and Research. While at UT, she was elected to its Academy of Health Science Education and named as a Fellow of the American Academy of Nursing. She was appointed the John P. McGovern Distinguished Professor of Addiction Nursing at UT Health Science …


Ms171: Interview With Huda Zoghbi, Huda Zoghbi Md, Houston Academy Of Medicine-Texas Medical Center Library Mar 2016

Ms171: Interview With Huda Zoghbi, Huda Zoghbi Md, Houston Academy Of Medicine-Texas Medical Center Library

Texas Medical Center - Women's History Project

An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. She was also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital. See more at Texas Medical Center-Women's History Project and its finding aid.

SOURCE: Baylor College of Medicine website, http://www.bcm.edu


Ms171: Interview With Margaret Caddy, Margaret Caddy, Houston Academy Of Medicine-Texas Medical Center Library Mar 2016

Ms171: Interview With Margaret Caddy, Margaret Caddy, Houston Academy Of Medicine-Texas Medical Center Library

Texas Medical Center - Women's History Project

An oral History interview with Margaret Caddy discussing her nursing and administrative career in Houston and the Texas Medical Center. Caddy worked in hospice care from 1983-2009. Part of that time, She served as the Executive Director for Houston Hospice. See more at Texas Medical Center-Women's History Project and its finding aid.


Ms171: Interview With Dana Rooks, Dana Rooks, Houston Academy Of Medicine-Texas Medical Center Library Mar 2016

Ms171: Interview With Dana Rooks, Dana Rooks, Houston Academy Of Medicine-Texas Medical Center Library

Texas Medical Center - Women's History Project

An oral history interview with Dana Rooks, who served as Dean of Libraries at the University of Houston from 1997-2014. See more at Texas Medical Center-Women's History Project and its finding aid.


Student Appreciation Day Tomorrow, Beatriz Varman Mar 2016

Student Appreciation Day Tomorrow, Beatriz Varman

TMC Library Newsletter (2015-)

Join us Wednesday, March 2 from 11:30 a.m. – 12:45 p.m. for therapy dogs, snacks, live music, and giveaways. We can't wait to see you there!


New And Improved Visualdx: More Diagnoses, More Images. Now Available In Our Favorite Diagnostic Differential Builder, Joanne Romano Mar 2016

New And Improved Visualdx: More Diagnoses, More Images. Now Available In Our Favorite Diagnostic Differential Builder, Joanne Romano

TMC Library Newsletter (2015-)

More diagnoses, more images. Now available in our favorite diagnositic differential builder.


Ct-Based Structural Rigidity Analysis Is More Accurate Than Mirels Scoring For Fracture Prediction In Metastatic Femoral Lesions, Ta Damron, A Nazarian, V Entezari, C Brown, W Grant, N Calderon, Et Al. Mar 2016

Ct-Based Structural Rigidity Analysis Is More Accurate Than Mirels Scoring For Fracture Prediction In Metastatic Femoral Lesions, Ta Damron, A Nazarian, V Entezari, C Brown, W Grant, N Calderon, Et Al.

Faculty, Staff and Students Publications

BACKGROUND: Controversy continues regarding the appropriate assessment of fracture risk in long bone lesions affected by disseminated malignancy. QUESTIONS/PURPOSES: The purpose of this ongoing Musculoskeletal Tumor Society-sponsored, multi-institutional prospective cross-sectional clinical study is to compare CT-based structural rigidity analysis (CTRA) with physician-derived Mirels scoring for predicting pathologic fracture in femoral bone lesions. We hypothesized CTRA would be superior to Mirels in predicting fracture risk within the first year based on (1) sensitivity, specificity, positive predictive value, and negative predictive value; (2) receiver operator characteristic (ROC) analysis; and (3) fracture prediction after controlling for potential confounding variables such as age and …


Explicit Time Deficit In Schizophrenia: Systematic Review And Meta-Analysis Indicate It Is Primary And Not Domain Specific, V Ciullo, G Spalletta, C Caltagirone, Re Jorge, F Piras Mar 2016

Explicit Time Deficit In Schizophrenia: Systematic Review And Meta-Analysis Indicate It Is Primary And Not Domain Specific, V Ciullo, G Spalletta, C Caltagirone, Re Jorge, F Piras

Faculty, Staff and Students Publications

Although timing deficits are a robust finding in schizophrenia (SZ), the notion of a genuine time perception disorder in SZ is still being debated because distortions in timing might depend on neuropsychological deficits that are characteristics of the illness. Here we used meta-analytic methods to summarize the evidence of timing deficits in SZ and moderator analyses to determine whether defective timing in SZ arises from nontemporal sources or from defective time perception. PubMed Services, PsycNET, and Scopus were searched through March 2015, and all references in articles were investigated to find other relevant studies. Studies were selected if they included …


Is Whole-Exome Sequencing An Ethically Disruptive Technology? Perspectives Of Pediatric Oncologists And Parents Of Pediatric Patients With Solid Tumors, Laurence B Mccullough, Melody J Slashinski, Amy L Mcguire, Richard L Street, Christine M Eng, Richard A Gibbs, D William Parsons, Sharon E Plon Mar 2016

Is Whole-Exome Sequencing An Ethically Disruptive Technology? Perspectives Of Pediatric Oncologists And Parents Of Pediatric Patients With Solid Tumors, Laurence B Mccullough, Melody J Slashinski, Amy L Mcguire, Richard L Street, Christine M Eng, Richard A Gibbs, D William Parsons, Sharon E Plon

Faculty, Staff and Students Publications

BACKGROUND: It has been anticipated that physician and parents will be ill prepared or unprepared for the clinical introduction of genome sequencing, making it ethically disruptive.

PROCEDURE: As a part of the Baylor Advancing Sequencing in Childhood Cancer Care study, we conducted semistructured interviews with 16 pediatric oncologists and 40 parents of pediatric patients with cancer prior to the return of sequencing results. We elicited expectations and attitudes concerning the impact of sequencing on clinical decision making, clinical utility, and treatment expectations from both groups. Using accepted methods of qualitative research to analyze interview transcripts, we completed a thematic analysis …


Identification Of An Association Of Tnfaip3 Polymorphisms With Matrix Metalloproteinase Expression In Fibroblasts In An Integrative Study Of Systemic Sclerosis-Associated Genetic And Environmental Factors*, Peng Wei, Yang Yang, Xinjian Guo, Nainan Hei, Syeling Lai, Shervin Assassi, Mengyuan Liu, Filemon Tan, Xiaodong Zhou Mar 2016

Identification Of An Association Of Tnfaip3 Polymorphisms With Matrix Metalloproteinase Expression In Fibroblasts In An Integrative Study Of Systemic Sclerosis-Associated Genetic And Environmental Factors*, Peng Wei, Yang Yang, Xinjian Guo, Nainan Hei, Syeling Lai, Shervin Assassi, Mengyuan Liu, Filemon Tan, Xiaodong Zhou

Faculty, Staff and Students Publications

OBJECTIVE: Systemic sclerosis (SSc) is a fibrotic disease attributed to both genetic susceptibility and environmental factors. This study was undertaken to investigate the associations between SSc-associated genetic variants and the expression of extracellular matrix (ECM) genes in human fibroblasts stimulated with silica particles in time-course and dose-response experiments.

METHODS: A total of 200 fibroblast strains were examined for ECM gene expression after stimulation with silica particles. The fibroblasts were genetically profiled using Immunochip assays and then subjected to whole-genome genotype imputation. Associations of genotypes and gene expression were first analyzed in a Caucasian cohort and then validated in a meta-analysis …