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Full-Text Articles in Medicine and Health Sciences
Sickle Cell Anemia, Esther Bassaw
Sickle Cell Anemia, Esther Bassaw
Nursing Student Class Projects (Formerly MSN)
Sickle cell anemia (SCA) is an inherited autosomal recessive disorder of red blood cell caused by an abnormality of hemoglobin called sickle hemoglobin (HbS) (Centers for Disease Control and Prevention (CDC), 2017). African countries carry the highest incident of individuals with the SCA(CDC, 2017). In the United State, approximately 1 in 12 African-Americans carry the trait for SCA, and 1 of every 350 African-American infants born have the disorder (CDC, 2017). Individuals with sickle cell disease exhibit significant morbidity and mortality. Clinical manifestations of SCA are chronic hemolysis and acute vaso-occlusive crisis, which causes severe pain, infections, and chronic organ …
Evaluating The Roles Of Follicle-Stimulating Hormone Receptor Polymorphisms In Gonadal Hyperstimulation Associated With Severe Juvenile Primary Hypothyroidism, Ginny Ryan, X. Feng, C. D'Alva, M. Zhang, Bradley Van Voorhis, E. Pinto, A. Kubias, S. Antonini, A. Latronico, D. Segaloff
Evaluating The Roles Of Follicle-Stimulating Hormone Receptor Polymorphisms In Gonadal Hyperstimulation Associated With Severe Juvenile Primary Hypothyroidism, Ginny Ryan, X. Feng, C. D'Alva, M. Zhang, Bradley Van Voorhis, E. Pinto, A. Kubias, S. Antonini, A. Latronico, D. Segaloff
Ginny L. Ryan
CONTEXT: Rare activating mutations of the human (h)FSHR have been reported in some women with spontaneous ovarian hyperstimulation in pregnancy, where follicular growth is inappropriately stimulated by elevated concentrations of human chorionic gonadotropin acting through the hFSHR. It is not known whether ovarian hyperstimulation in peripubertal girls with untreated primary hypothyroidism is caused by hFSHR mutations and/or influenced by hFSHR allelic variants, rendering the hFSHR more sensitive to circulating TSH. OBJECTIVE: The aim of the study was to determine whether mutations of the hFSHR and/or hFSHR allelic variants are associated with greater sensitivity of the hFSHR to TSH. DESIGN: The …
Pharmacogenetic Screening For Susceptibility To Fetal Malformations In Women, D. Van Dyke, V. Ellingrod, M. Berg, Jennifer Niebyl, A. Sherbondy, D. Trembath
Pharmacogenetic Screening For Susceptibility To Fetal Malformations In Women, D. Van Dyke, V. Ellingrod, M. Berg, Jennifer Niebyl, A. Sherbondy, D. Trembath
Jennifer R Niebyl
OBJECTIVE: To present a review of the literature and research on the pharmacogenetics of congenital defects, with a focus on the need for predictive maternal genotype assays. DATA SOURCE: MEDLINE searches (January 1985-January 1999), past reference reviews, and unpublished research. STUDY SELECTION: Review of relevant human, animal, and basic science studies. DATA EXTRACTION: Data on research on polymorphisms, genotyping, cytochrome P450 enzyme systems, epoxide hydrolase, folate metabolism, metabolism of anticonvulsant medications, molecular genetics of neural tube defects, variations in drug metabolism, and environmental exposures were evaluated. DATA SYNTHESIS: Data synthesis includes not only a review of the literature but suggests …
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Xiangbing Meng
Endometrial cancer (ECa) is the fourth most common malignancy in women. Currently, there is no effective therapy for advanced and recurrent cancer. Among the poor-outcome endometrial cancers, there is a high frequency of TP53 mutations. We have previously reported that amifostine has a direct anti-cancer effect and has a significant synergistic effect with paclitaxel when used in endometrial cancer cell and xenograft models. In this report, using a cell line with knock-down p53 expression through siRNA, we found that amifostine enhancement of paclitaxel's anticancer effect is p53 status-dependent. Amifostine promotes entry into the G2-M phase through regulation of cyclin-dependent kinase-1 …
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Donghai Dai
Endometrial cancer (ECa) is the fourth most common malignancy in women. Currently, there is no effective therapy for advanced and recurrent cancer. Among the poor-outcome endometrial cancers, there is a high frequency of TP53 mutations. We have previously reported that amifostine has a direct anti-cancer effect and has a significant synergistic effect with paclitaxel when used in endometrial cancer cell and xenograft models. In this report, using a cell line with knock-down p53 expression through siRNA, we found that amifostine enhancement of paclitaxel's anticancer effect is p53 status-dependent. Amifostine promotes entry into the G2-M phase through regulation of cyclin-dependent kinase-1 …
Egfr Isoforms And Gene Regulation In Human Endometrial Cancer Cells, L. Albitar, G. Pickett, M. Morgan, J. Wilken, N. Maihle, Kimberly Leslie
Egfr Isoforms And Gene Regulation In Human Endometrial Cancer Cells, L. Albitar, G. Pickett, M. Morgan, J. Wilken, N. Maihle, Kimberly Leslie
Kimberly K. Leslie
BACKGROUND: Epidermal growth factor (EGF) and its receptor (EGFR) constitute a principal growth-promoting pathway in endometrial cancer cells. Pre-clinical studies were undertaken to compare the expression of EGFR isoforms and the downstream effects of activating or blocking EGFR function in Ishikawa H cells, derived from a moderately differentiated type I endometrioid adenocarcinoma, or in Hec50co cells, derived from a poorly differentiated type II adenocarcinoma with papillary serous sub-differentiation. RESULTS: We investigated whether EGFR mutations are present in the tyrosine kinase domain (exons 18-22) of EGFR and also whether EGFR isoforms are expressed in the Ishikawa H or Hec50co cell lines. …
Models Representing Type I And Type Ii Human Endometrial Cancers: Ishikawa H And Hec50co Cells, L. Albitar, G. Pickett, M. Morgan, S. Davies, Kimberly Leslie
Models Representing Type I And Type Ii Human Endometrial Cancers: Ishikawa H And Hec50co Cells, L. Albitar, G. Pickett, M. Morgan, S. Davies, Kimberly Leslie
Kimberly K. Leslie
OBJECTIVE: Endometrial cancer models are critical to the advancement of investigation, and Ishikawa H and Hec50co cells have been used as research tools. The purpose of these studies is to verify the degree to which these commonly used cell models share the molecular characteristics of the two major in vivo endometrial cancer subtypes, I and II. METHODS: The studies reported include an analysis of pathologic features, tumor suppressor mutations, detailed karyotyping, and cell cycle regulation. RESULTS: Ishikawa H cells are hormone responsive and have lost PTEN expression. In addition they have lost RB1 expression due to a deletion in exon …
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Amifostine Enhancement Of The Anti-Cancer Effects Of Paclitaxel In Endometrial Cancer Is Tp53-Dependent, W. Luo, F. Wu, R. Elmaoued, B. Beck, E. Fischer, Xiangbing Meng, Kimberly Leslie, Donghai Dai
Kimberly K. Leslie
Endometrial cancer (ECa) is the fourth most common malignancy in women. Currently, there is no effective therapy for advanced and recurrent cancer. Among the poor-outcome endometrial cancers, there is a high frequency of TP53 mutations. We have previously reported that amifostine has a direct anti-cancer effect and has a significant synergistic effect with paclitaxel when used in endometrial cancer cell and xenograft models. In this report, using a cell line with knock-down p53 expression through siRNA, we found that amifostine enhancement of paclitaxel's anticancer effect is p53 status-dependent. Amifostine promotes entry into the G2-M phase through regulation of cyclin-dependent kinase-1 …
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Sandra Daack-Hirsch
PURPOSE: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. METHODS: We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium …
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
Sandra Daack-Hirsch
We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family. The protein encoded by PITX3 shows 99% amino-acid identity to the mouse protein, with 100% identity in the homeodomain and approximately 70% overall identity to other members of this family. We mapped the human PITX3 gene to 10q25 using a radiation-hybrid panel. A collection of 80 DNA samples from individuals with various …
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations …
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a …
Association Of Msx1 And Tgfb3 With Nonsyndromic Clefting In Humans, A. Lidral, P. Romitti, A. Basart, T. Doetschman, N. Leysens, Sandra Daack-Hirsch, E. Semina, L. Johnson, J. Machida, A. Burds, T. Parnell, J. L. Rubenstein, J. Murray
Association Of Msx1 And Tgfb3 With Nonsyndromic Clefting In Humans, A. Lidral, P. Romitti, A. Basart, T. Doetschman, N. Leysens, Sandra Daack-Hirsch, E. Semina, L. Johnson, J. Machida, A. Burds, T. Parnell, J. L. Rubenstein, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic ramifications. Both CL/P and CPO are examples of complex genetic traits. There exists sufficient evidence to hypothesize that disease loci for CL/P and CPO can be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting, including TGFA, BCL3, DLX2, MSX1, and TGFB3, were screened for LD with either CL/P or CPO in a predominantly Caucasian population, with both case-control- and nuclear-family-based approaches. Previously reported LD for TGFA with both CL/P and CPO …