Quinn P Stein, Cate Walsh Vockley, Mathew J Edick, Shaohui Zhai, Sally J Hiner, Rebecca S Loman, Laura Davis-Keppen, Taylor A Zuck, Cynthia A Cameron, Susan A Berry, ,
The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, ... Read more >>
J Genet Couns (Journal of genetic counseling)
[2017, 26(6):1238-1243]
Cited: 0 times
Nicholas M McCrory, Mathew J Edick, Ayesha Ahmad, Susan Lipinski, Jessica A Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A Cameron, Susan A Berry, Loren D M Pena, ,
OBJECTIVES:To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables. STUDY DESIGN:Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System ... Read more >>
J. Pediatr. (The Journal of pediatrics)
[2017, 180:200-205.e8]
Cited: 3 times
Susan A Berry, Nancy D Leslie, Mathew J Edick, Sally Hiner, Kaitlin Justice, Cynthia Cameron,
The Inborn Errors of Metabolism Information System (IBEM-IS) collects data on the clinical history of inborn errors of metabolism (IBEMs). The IBEM-IS is accessible to metabolic clinics nationwide and seeks to (i) influence clinical management of affected individuals and (ii) provide information to support public health decision making.Thirty centers in ... Read more >>
Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2016, 18(12):1276-1281]
Cited: 4 times
RaeLynn Forsyth, Catherine Walsh Vockley, Mathew J Edick, Cynthia A Cameron, Sally J Hiner, Susan A Berry, Jerry Vockley, Georgianne L Arnold, ,
3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers are known ... Read more >>
Mol. Genet. Metab. (Molecular genetics and metabolism)
[2016, 118(1):15-20]
Cited: 5 times
Kristi Bentler, Shaohui Zhai, Sara A Elsbecker, Georgianne L Arnold, Barbara K Burton, Jerry Vockley, Cynthia A Cameron, Sally J Hiner, Mathew J Edick, Susan A Berry, ,
There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism ... Read more >>
Mol. Genet. Metab. (Molecular genetics and metabolism)
[2016, 119(1-2):75-82]
Cited: 4 times
Loren D M Pena, Sandra C van Calcar, Joyanna Hansen, Mathew J Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia Cameron, Al-Walid Mohsen, Susan A Berry, Georgianne L Arnold, Jerry Vockley, ,
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform ... Read more >>
Mol. Genet. Metab. (Molecular genetics and metabolism)
[2016, 118(4):272-281]
Cited: 17 times
Kristen Uchtmann, Electa R Park, Alexis Bergsma, Justin Segula, Mathew J Edick, Cindy K Miranti,
Integrin αIIbβ3 is critical for platelet-mediated blood clotting. Tetraspanins are well-established regulators of integrins and genetic loss of tetraspanin CD151 or TSSC6 in mice leads to increased bleeding due to inadequate integrin αIIbβ3 outside-in signaling. Conversely, mild but enhanced integrin αIIbβ3 activation and hyperaggregation is observed in CD9 and CD63 ... Read more >>
Exp. Cell Res. (Experimental cell research)
[2015, 339(2):261-269]
Cited: 8 times
Penny L Berger, Sander B Frank, Veronique V Schulz, Eric A Nollet, Mathew J Edick, Brittany Holly, Ting-Tung A Chang, Galen Hostetter, Suwon Kim, Cindy K Miranti,
The mechanisms by which Myc overexpression or Pten loss promotes prostate cancer development are poorly understood. We identified the chromatin remodeling protein, ING4, as a crucial switch downstream of Myc and Pten that is required for human prostate epithelial differentiation. Myc-induced transient expression of ING4 is required for the differentiation ... Read more >>
Cancer Res. (Cancer research)
[2014, 74(12):3357-3368]
Cited: 17 times
Laura B Ramsey, Laura J Janke, Mathew J Edick, Cheng Cheng, Richard T Williams, Charles J Sherr, William E Evans, Mary V Relling,
Thiopurines are used for many cancers, including acute lymphoblastic leukemia (ALL). Patients with an inherited host defect in thiopurine methyltransferase (TPMT) are at high risk for life-threatening toxicity if treated with conventional dosages, but the impact on antileukemic efficacy is less clear.We treated thiopurine-sensitive BCR-ABL+Arf-null Tpmt+/+ ALL in Tpmt+/+, +/-, ... Read more >>
Pharmacogenet. Genomics (Pharmacogenetics and genomics)
[2014, 24(5):263-271]
Cited: 3 times
Christine Hartford, Erick Vasquez, Matthias Schwab, Mathew J Edick, Jerold E Rehg, Gerard Grosveld, Ching-Hon Pui, William E Evans, Mary V Relling,
The recessive deficiency in thiopurine methyltransferase (TPMT), caused by germ-line polymorphisms in TPMT, can cause severe toxicity after mercaptopurine. However, the significance of heterozygosity and the effect of the polymorphism on thioguanine or in the absence of thiopurines is not known. To address these issues, we created a murine knockout ... Read more >>
Cancer Res. (Cancer research)
[2007, 67(10):4965-4972]
Cited: 22 times
Mathew J Edick, Lia Tesfay, Laura E Lamb, Beatrice S Knudsen, Cindy K Miranti,
In vivo in the prostate gland, basal epithelial cells adhere to laminin 5 (LM5) via alpha3beta1 and alpha6beta4 integrins. When placed in culture primary prostate basal epithelial cells secrete and adhere to their own LM5-rich matrix. Adhesion to LM5 is required for cell survival that is dependent on integrin-mediated, ligand-independent ... Read more >>
Mol. Biol. Cell (Molecular biology of the cell)
[2007, 18(7):2481-2490]
Cited: 45 times
Mathew J Edick, Cheng Cheng, Wenjian Yang, Meyling Cheok, Mark R Wilkinson, Deqing Pei, William E Evans, Larry E Kun, Ching-Hon Pui, Mary V Relling,
Gene expression profiles are tissue-specific but may also reflect germ-line-driven expression patterns across tissue types. Previously, using a targeted pharmacologic approach, we identified germ-line polymorphisms in a single gene (thiopurine methyltransferase) associated with the risk of irradiation- and chemotherapy-induced secondary brain tumors in children with acute lymphoblastic leukemia (ALL). To ... Read more >>
Genes Chromosomes Cancer (Genes, chromosomes & cancer)
[2005, 42(2):107-116]
Cited: 20 times
Javier G Blanco, Mathew J Edick, Mary V Relling,
MLL gene fusions are the hallmark of more than 70% of therapy-related leukemias (t-ML) associated with topoisomerase II inhibitors (e.g., etoposide) and cause leukemia in murine transgenic models. To determine whether Mll genomic fusions can occur after exposure to topoisomerase II inhibitors, we developed a long-distance inverse PCR DNA-based assay ... Read more >>
FASEB J. (FASEB journal : official publication of the Federation of American Societies for Experimental Biology)
[2004, 18(1):173-175]
Cited: 25 times
Javier G Blanco, Mathew J Edick, Michael L Hancock, Naomi J Winick, Thierry Dervieux, Michael D Amylon, Robert O Bash, Frederick G Behm, Bruce M Camitta, Ching-Hon Pui, Susana C Raimondi, Mary V Relling,
Therapy-related acute myeloid leukemia and myelodysplastic syndrome (t-ML) are serious complications that affect some patients after acute lymphoblastic leukemia (ALL) treatment. Genetic polymorphisms in the promoter of CYP3A4 (CYP3A4*1B) and in NAD(P)H:quinone oxidoreductase (NQO1609C-->T substitution) have been associated with the risk of t-ML. A polymorphism in CYP3A5 (CYP3A5*3) affects CYP3A ... Read more >>
Pharmacogenetics (Pharmacogenetics)
[2002, 12(8):605-611]
Cited: 61 times
Mathew J Edick, Amar Gajjar, Hazem H Mahmoud, Matthijs E C van de Poll, Patricia L Harrison, John C Panetta, Gaston K Rivera, Raul C Ribeiro, John T Sandlund, James M Boyett, Ching-Hon Pui, Mary V Relling,
To study the pharmacokinetics and pharmacodynamics of once- versus twice-daily oral etoposide in children with relapsed or refractory acute lymphoblastic leukemia (ALL).Fifty-eight patients were randomly assigned to etoposide at 50 mg/m(2)/d with once- versus twice-daily doses for 22 days. On day 8, vincristine, asparaginase, and dexamethasone were started. Etoposide pharmacokinetics ... Read more >>
J. Clin. Oncol. (Journal of clinical oncology : official journal of the American Society of Clinical Oncology)
[2003, 21(7):1340-1346]
Cited: 21 times