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1. Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial

Author

Jahn, Nikolaus, Jahn, Ekaterina, Saadati, Maral, Bullinger, Lars, Larson, Richard A., Ottone, Tiziana, Amadori, Sergio, Prior, Thomas W., Brandwein, Joseph M., Appelbaum, Frederick R., Medeiros, Bruno C., Tallman, Martin S., Ehninger, Gerhard, Heuser, Michael, Ganser, Arnold, Pallaud, Celine, Gathmann, Insa, Krzykalla, Julia, Benner, Axel, Bloomfield, Clara D., Thiede, Christian, Stone, Richard M., Döhner, Hartmut, and Döhner, Konstanze

Published
2022
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2. Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results

Author

Rücker, Frank G., Du, Ling, Luck, Tamara J., Benner, Axel, Krzykalla, Julia, Gathmann, Insa, Voso, Maria Teresa, Amadori, Sergio, Prior, Thomas W., Brandwein, Joseph M., Appelbaum, Frederick R., Medeiros, Bruno C., Tallman, Martin S., Savoie, Lynn, Sierra, Jorge, Pallaud, Celine, Sanz, Miguel A., Jansen, Joop H., Niederwieser, Dietger, Fischer, Thomas, Ehninger, Gerhard, Heuser, Michael, Ganser, Arnold, Bullinger, Lars, Larson, Richard A., Bloomfield, Clara D., Stone, Richard M., Döhner, Hartmut, Thiede, Christian, and Döhner, Konstanze

Published
2022
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3. Midostaurin reduces relapse in FLT3-mutant acute myeloid leukemia: the Alliance CALGB 10603/RATIFY trial

Author

Larson, Richard A., Mandrekar, Sumithra J., Huebner, Lucas J., Sanford, Ben L., Laumann, Kristina, Geyer, Susan, Bloomfield, Clara D., Thiede, Christian, Prior, Thomas W., Döhner, Konstanze, Marcucci, Guido, Voso, Maria Teresa, Klisovic, Rebecca B., Galinsky, Ilene, Wei, Andrew H., Sierra, Jorge, Sanz, Miguel A., Brandwein, Joseph M., de Witte, Theo, Niederwieser, Dietger, Appelbaum, Frederick R., Medeiros, Bruno C., Tallman, Martin S., Krauter, Jürgen, Schlenk, Richard F., Ganser, Arnold, Serve, Hubert, Ehninger, Gerhard, Amadori, Sergio, Gathmann, Insa, Döhner, Hartmut, and Stone, Richard M.

Published
2021
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4. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

Author

Ramos, Daniel M., d'Ydewalle, Constantin, Gabbeta, Vijayalakshmi, Dakka, Amal, Klein, Stephanie K., Norris, Daniel A., Matson, John, Taylor, Shannon J., Zaworski, Phillip G., Prior, Thomas W., Snyder, Pamela J., Valdivia, David, Hatem, Christine L., Waters, Ian, Gupte, Nikhil, Swoboda, Kathryn J., Rigo, Frank, Bennett, C. Frank, Naryshkin, Nikolai, Paushkin, Sergey, Crawford, Thomas O., and Sumner, Charlotte J.

Subjects
Thermo Fisher Scientific Inc., Nusinersen, Pregnant women, RNA, Scientific equipment industry, Spinal muscular atrophy, Messenger RNA, Neurons, Muscular atrophy, Brain, Retirement benefits, Health care industry, Johns Hopkins University. School of Medicine
Abstract

BACKGROUND. Spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits. Limited knowledge of baseline and drug-induced SMN levels in disease-relevant tissues hinders efforts to optimize these treatments. METHODS. SMN mRNA and protein levels were quantified in human tissues isolated during expedited autopsies. RESULTS. SMN protein expression varied broadly among prenatal control spinal cord samples, but was restricted at relatively low levels in controls and SMA patients after 3 months of life. A 2.3-fold perinatal decrease in median SMN protein levels was not paralleled by comparable changes in SMN mRNA. In tissues isolated from nusinersen-treated SMA patients, antisense oligonucleotide (ASO) concentration and full-length (exon 7 including) SMN2 (SMN2-FL) mRNA level increases were highest in lumbar and thoracic spinal cord. An increased number of cells showed SMN immunolabeling in spinal cord of treated patients, but was not associated with an increase in whole-tissue SMN protein levels. CONCLUSIONS. A normally occurring perinatal decrease in whole-tissue SMN protein levels supports efforts to initiate SMN-inducing therapies as soon after birth as possible. Limited ASO distribution to rostral spinal and brain regions in some patients likely limits clinical response of motor units in these regions for those patients. These results have important implications for optimizing treatment of SMA patients and warrant further investigations to enhance bioavailability of intrathecally administered ASOs. FUNDING. SMA Foundation, SMART, NIH (R01-NS096770, R01-NS062869), Ionis Pharmaceuticals, and PTC Therapeutics. Biogen provided support for absolute real-time RT-PCR., Introduction The neuromuscular disease spinal muscular atrophy (SMA), affecting approximately 1 in 10,000 individuals, is the most common inherited cause of infant death (1). The most frequent and severe type [...]

Published
2019
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5. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Author

Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., and Burghes, Arthur H. M.

Published
2019
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6. Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative

Author

Pearlman, Rachel, Frankel, Wendy L., Swanson, Benjamin J., Jones, Dan, Zhao, Weiqiang, Yilmaz, Ahmet, Miller, Kristin, Bacher, Jason, Bigley, Christopher, Nelsen, Lori, Goodfellow, Paul J., Goldberg, Richard M., Paskett, Electra, Shields, Peter G., Freudenheim, Jo L., Stanich, Peter P., Lattimer, Ilene, Arnold, Mark, Prior, Thomas W., Haut, Mitchell, Kalady, Matthew F., Heald, Brandie, Paquette, Ian, Draper, David J., Brell, Joanna M., Mahesh, Sameer, Weeman, Kisa, Bastola, Shyamal, Zangmeister, Jeffrey, Gowda, Aruna, Kencana, Filix, Malcolm, Albert, Liu, Yinong, Cole, Sharon, Bane, Charles, Li, Chaoyang, Rehmus, Esther, Pritchard, Colin C., Shirts, Brian H., Jacobson, Angela, Cummings, Shelly A., de la Chapelle, Albert, and Hampel, Heather

Published
2021
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7. Supplementary Table 1 from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

Author

Hampel, Heather, primary, Frankel, Wendy, primary, Panescu, Jenny, primary, Lockman, Janet, primary, Sotamaa, Kaisa, primary, Fix, Daniel, primary, Comeras, Ilene, primary, La Jeunesse, Jennifer, primary, Nakagawa, Hidewaki, primary, Westman, Judith A., primary, Prior, Thomas W., primary, Clendenning, Mark, primary, Penzone, Pamela, primary, Lombardi, Janet, primary, Dunn, Patti, primary, Cohn, David E., primary, Copeland, Larry, primary, Eaton, Lynne, primary, Fowler, Jeffrey, primary, Lewandowski, George, primary, Vaccarello, Luis, primary, Bell, Jeffrey, primary, Reid, Gary, primary, and de la Chapelle, Albert, primary

Published
2023
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8. Data from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

Author

Hampel, Heather, primary, Frankel, Wendy, primary, Panescu, Jenny, primary, Lockman, Janet, primary, Sotamaa, Kaisa, primary, Fix, Daniel, primary, Comeras, Ilene, primary, La Jeunesse, Jennifer, primary, Nakagawa, Hidewaki, primary, Westman, Judith A., primary, Prior, Thomas W., primary, Clendenning, Mark, primary, Penzone, Pamela, primary, Lombardi, Janet, primary, Dunn, Patti, primary, Cohn, David E., primary, Copeland, Larry, primary, Eaton, Lynne, primary, Fowler, Jeffrey, primary, Lewandowski, George, primary, Vaccarello, Luis, primary, Bell, Jeffrey, primary, Reid, Gary, primary, and de la Chapelle, Albert, primary

Published
2023
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9. Supplementary Table 2 from Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

Author

Hampel, Heather, primary, Frankel, Wendy, primary, Panescu, Jenny, primary, Lockman, Janet, primary, Sotamaa, Kaisa, primary, Fix, Daniel, primary, Comeras, Ilene, primary, La Jeunesse, Jennifer, primary, Nakagawa, Hidewaki, primary, Westman, Judith A., primary, Prior, Thomas W., primary, Clendenning, Mark, primary, Penzone, Pamela, primary, Lombardi, Janet, primary, Dunn, Patti, primary, Cohn, David E., primary, Copeland, Larry, primary, Eaton, Lynne, primary, Fowler, Jeffrey, primary, Lewandowski, George, primary, Vaccarello, Luis, primary, Bell, Jeffrey, primary, Reid, Gary, primary, and de la Chapelle, Albert, primary

Published
2023
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11. Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Author

Miller, Cecelia R., Fang, Jin, Snyder, Pamela, Long, Susan E., Prior, Thomas W., Jones, Dan, and Avenarius, Matthew R.

Abstract

Purpose. Therapeutic advances in the treatment of spinal muscular atrophy (SMA) prompt the need for robust and efficient molecular diagnosis of this disease. Approximately five percent of SMA cases are attributable to one copy of SMN1 with a hypomorphic or inactivating variant in trans with a deleted or converted allele. These intragenic variants are challenging to definitively localize to SMN1 due to its sequence homology with the SMN2 gene. To enhance the clinical sensitivity of SMA diagnostic testing, we present an optimized gene-specific sequencing assay to localize variants to either SMN1 or SMN2. Methods. SMN1 and SMN2 genes are independently amplified by long-range allele-specific PCR. Long-range products are used in subsequent nested PCR reactions to amplify the coding exons of SMN1 and SMN2. The resulting products are sequenced using standard Sanger-based methodologies and analyzed for disease-associated alterations. Results. 83 probands suspicious for a clinical diagnosis of SMA with a nondiagnostic SMN dosage result were sequenced for intragenic variants in the SMN1 gene. Gene-specific sequencing revealed likely disease-associated variants in SMN1 in 42 cases (50.6%). Of the 42 variants, 27 are unique including 16 loss-of-function variants, 9 missense variants, 1 in-frame deletion variant, and 1 splice site variant. Conclusions. Herein, we describe an optimized assay for clinical sequencing of the full coding region of SMN1 and SMN2. This assay uses standard techniques and equipment readily available to most molecular diagnostic laboratories. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I

Author

Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist‐Retzow, Jürgen‐Christoph, Hero, Barbara, DʼAnjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, Sakonju, Ai, Wirth, Brunhilde, and Swoboda, Kathryn J.

Published
2018
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13. Natural history of infantile‐onset spinal muscular atrophy

Author

Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Iannaccone, Susan T., Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, and Kissel, John T.

Published
2017
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14. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Author

Mendell, Jerry R., Al-Zaidy, Samiah, Shell, Richard, Arnold, W. Dave, Rodino-Klapac, Louise R., Prior, Thomas W., Lowes, Linda, Alfano, Lindsay, Berry, Katherine, Church, Kathleen, Kissel, John T., Nagendran, Sukumar, L’Italien, James, Sproule, Douglas M., Wells, Courtney, Cardenas, Jessica A., Heitzer, Marjet D., Kaspar, Allan, Corcoran, Sarah, Braun, Lyndsey, Likhite, Shibi, Miranda, Carlos, Meyer, Kathrin, Foust, K. D., Burghes, Arthur H.M., and Kaspar, Brian K.

Published
2017
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15. Neuromuscular Diseases

Author

Prior, Thomas W., Leonard, Debra G. B., editor, Bagg, Adam, editor, Caliendo, Angela M., editor, Kaul, Karen L., editor, and Van Deerlin, Vivianna M., editor

Published
2007
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16. inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations

Author

Schwind, Sebastian, Edwards, Colin G., Nicolet, Deedra, Mrózek, Krzysztof, Maharry, Kati, Wu, Yue-Zhong, Paschka, Peter, Eisfeld, Ann-Kathrin, Hoellerbauer, Pia, Becker, Heiko, Metzeler, Klaus H., Curfman, John, Kohlschmidt, Jessica, Prior, Thomas W., Kolitz, Jonathan E., Blum, William, Pettenati, Mark J., Dal Cin, Paola, Carroll, Andrew J., Caligiuri, Michael A., Larson, Richard A., Volinia, Stefano, Marcucci, Guido, and Bloomfield, Clara D.

Published
2013
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18. Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results

Author

Rücker, Frank G., primary, Du, Ling, additional, Luck, Tamara J., additional, Benner, Axel, additional, Krzykalla, Julia, additional, Gathmann, Insa, additional, Voso, Maria Teresa, additional, Amadori, Sergio, additional, Prior, Thomas W., additional, Brandwein, Joseph M., additional, Appelbaum, Frederick R., additional, Medeiros, Bruno C., additional, Tallman, Martin S., additional, Savoie, Lynn, additional, Sierra, Jorge, additional, Pallaud, Celine, additional, Sanz, Miguel A., additional, Jansen, Joop H., additional, Niederwieser, Dietger, additional, Fischer, Thomas, additional, Ehninger, Gerhard, additional, Heuser, Michael, additional, Ganser, Arnold, additional, Bullinger, Lars, additional, Larson, Richard A., additional, Bloomfield, Clara D., additional, Stone, Richard M., additional, Döhner, Hartmut, additional, Thiede, Christian, additional, and Döhner, Konstanze, additional

Published
2021
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19. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

Author

Keinath,Melissa C, Prior,Devin E, and Prior,Thomas W

Subjects
The Application of Clinical Genetics, nervous system diseases
Abstract

Melissa C Keinath,1 Devin E Prior,2 Thomas W Prior1 1Pathology, University Hospitals Center for Human Genetics, Cleveland, OH, USA; 2Neurology, Mount Auburn Hospital, Cambridge, MA, USACorrespondence: Thomas W Prior Email Thomas.Prior@UHhospitals.orgAbstract: Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency of 1 in 40– 50 and an estimated incidence of 1 in 10,000 live births, SMA is the second most common autosomal recessive disorder. Affected individuals with SMA have a homozygous loss of function of the survival motor neuron gene SMN1 on 5q13 but keep the modifying SMN2 gene. The most common mutation causing SMA is a homozygous deletion of the SMN1 exon 7, which can be readily detected and used as a sensitive diagnostic test. Because SMN2 produces a reduced number of full-length transcripts, the number of SMN2 copies can modify the clinical phenotype and as such, becomes an essential predictive factor. Population-based SMA carrier screening identifies carrier couples that may pass on this genetic disorder to their offspring and allows the carriers to make informed reproductive choices or prepare for immediate treatment for an affected child. Three treatments have recently been approved by the Food and Drug Administration (FDA). Nusinersen increases the expression levels of the SMN protein using an antisense oligonucleotide to alter splicing of the SMN2 transcript. Onasemnogene abeparvovec is a gene therapy that utilizes an adeno-associated virus serotype 9 vector to increase low functional SMN protein levels. Risdiplam is a small molecule that alters SMN2 splicing in order to increase functional SMN protein. Newborn screening for SMA has been shown to be successful in allowing infants to be treated before the loss of motor neurons and has resulted in improved clinical outcomes. Several of the recommendations and guidelines in the review are based on studies performed in the United States.Keywords: spinal muscular atrophy, carrier screening, newborn screening, SMA treatment

Published
2021

20. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project

Author

Prior, Thomas W., Bayrak-Toydemir, Pinar, Lynnes, Ty C., Mao, Rong, Metcalf, James D., Muralidharan, Kasinathan, Iwata-Otsubo, Aiko, Pham, Ha T., Pratt, Victoria M., Qureshi, Shumaila, Requesens, Deborah, Shen, Junqing, Vetrini, Francesco, and Kalman, Lisa

Subjects
DNA Copy Number Variations, Genotyping Techniques, Genetic Carrier Screening, Gene Dosage, Infant, Newborn, Genetic Counseling, Real-Time Polymerase Chain Reaction, Survival of Motor Neuron 1 Protein, Article, Cell Line, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, Phenotype, Humans, Alleles
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was recently recommended for inclusion in newborn screening. Clinical laboratories must accurately measure SMN1 and SMN2 copy number to identify SMA patients and carriers, and to identify individuals likely to benefit from therapeutic interventions. Having publicly available and appropriately characterized reference materials with various combinations of SMN1 and SMN2 copy number variants is critical to assure accurate SMA clinical testing. To address this need, the CDC-based Genetic Testing Reference Materials Coordination Program, in collaboration with members of the genetic testing community and the Coriell Institute for Medical Research, has characterized 15 SMA reference materials derived from publicly available cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using three different methods. The characterized samples had zero to four copies of SMN1 and zero to five copies SMN2. The samples also contained clinically important allele combinations (eg, zero copies SMN1, three copies SMN2), and several had markers indicative of an SMA carrier. These and other reference materials characterized by the Genetic Testing Reference Materials Coordination Program are available from the Coriell Institute and are proposed to support the quality of clinical laboratory testing.

Published
2020

22. Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

Author

Amos Wilson, Jean, Pratt, Victoria M., Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Jr, Beck, Jeanne C., Bridgeman, Scott, Courtney, Ebony M., Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L., Holtegaard, Leonard M., Jama, Mohamed A., Jakupciak, John P., Johnson, Monique A., Labrousse, Paul, Lyon, Elaine, Prior, Thomas W., Richards, C. Sue, Richie, Kristy L., Roa, Benjamin B., Rohlfs, Elizabeth M., Sellers, Tina, Sherman, Stephanie L., Siegrist, Karen A., Silverman, Lawrence M., Wiszniewska, Joanna, and Kalman, Lisa V.

Published
2008
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23. SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

Author

Kissel, John T., Elsheikh, Bakri, King, Wendy M., Freimer, Miriam, Scott, Charles B., Kolb, Stephen J., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Schroth, Mary K., DʼAnjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, and Swoboda, Kathryn J.

Published
2014
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25. A positive modifier of spinal muscular atrophy in the SMN2 gene

Author

Prior, Thomas W., Krainer, Adrian R., Yimin Hua, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., and Kissel, John T.

Subjects
Spinal muscular atrophy -- Causes of, Spinal muscular atrophy -- Genetic aspects, Cytosine -- Research, Gene mutations -- Analysis, Human genome -- Research, Biological sciences
Abstract

A study is conducted to analyze the role of SMN2 gene in decreasing the severity of the autosomal-recessive motor neuron disease called spinal muscular atrophy, caused by the homozygous loss of the SMN1 gene. Results reveal that a single-base substitution of guanine by cytosine at nucleotide 859 (c.859G>C) in the SMN2 gene is responsible for the increase in full-length transcripts, thus serving as a positive modifier of the SMA phenotype and decreasing the severity of the disease.

Published
2009

26. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

Author

Prior, Thomas W., primary, Bayrak-Toydemir, Pinar, additional, Lynnes, Ty C., additional, Mao, Rong, additional, Metcalf, James D., additional, Muralidharan, Kasinathan, additional, Iwata-Otsubo, Aiko, additional, Pham, Ha T., additional, Pratt, Victoria M., additional, Qureshi, Shumaila, additional, Requesens, Deborah, additional, Shen, Junqing, additional, Vetrini, Francesco, additional, and Kalman, Lisa, additional

Published
2021
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28. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis

Author

Sweet, Kevin, Bridgeman, Scott, Heinz, John, Willis, Joseph, Martin, Cossette, Pilarski, Robert, Eng, Charis, Xiao-Ping Zhou, Patocs, Attila, Lehtonen, Rainer, Aaltonen, Lauri A., Gallione, Carol, Khoo, Sok Kean, Prior, Thomas W., Marchuk, Douglas A., Sawada, Takeshi, Alhopuro, Pia, Frebourg, Thierry, and Teh, Bin Tean

Subjects
Peutz-Jeghers syndrome -- Diagnosis, Peutz-Jeghers syndrome -- Comparative analysis, Intestinal polyps -- Diagnosis, Intestinal polyps -- Comparative analysis
Abstract

Patients with unexplained hamartomatous or hyperplastic/mixed polyposis were systematically classified by extensive molecular analysis in the context of central rereview of histopathology results. Systematic molecular classification of 49 patients with unexplained hamartomatous or hyperplastic polyposis uncovered a potential novel susceptibility gene, ENG, for juvenile polyposis.

Published
2005

29. Somatic acquisition and signaling of TGFBR1*6A in cancer

Author

Pasche, Boris, Rosman, Diana, Prior, Thomas W., Vokes, Everett E., Nilsson, IngMarie, Yansong Bian, Knobloch, Thomas J., Phukan, Sharbani, Junjian Liu, de la Chapelle, Albert, Weghorst, Christopher, M., Heijne, Gunnar von, Fodde, Riccardo, Murty, V.V.V.S., Caldes, Trinidad, Lane, William S., Chiang-Ching Huang, Di Cristofano, Antonio, Hampel, Heather, Agrawal, Amit, Lang, Jas, Dolan, M. Eileen, Schuller, David E., Baddi, Lisa, Siddiqui, Farida S., Frankel, Wendy, and Kaklamani, Virginia

Subjects
Transforming growth factors -- Research, Oncogenes -- Research, Cancer -- Care and treatment, Cancer -- Research
Abstract

A study was conducted to determine whether TGFBR1*6A, a common polymorphism of the type 1 transforming growth factor beta receptor (TGFBR1), is somatically acquired by primary tumors and metastases during cancer development. Results indicated that TGFBR1*6A is acquired in 29.5% of liver metastases from colorectal cancer and might bestow cancer cells with a growth advantage in the presence of TGF-beta.

Published
2005

30. Screening for the lynch syndrome (hereditary nonpolyposis colorectal cancer)

Author

Hampel, Heather, Frankel, Wendy L., Martin, Edward, Chapelle, Albert de la, Khanduja, Karamjit, Arnold, Mark, Comeras, Illene, Kuebler, Philip, Nakagawa, Hidewaki, Lockman, Janet, Sotamaa, Kaisa, Prior, Thomas W., Fix, Dan, Panescu, Jenny, and Westman, Judith

Subjects
Gene mutations -- Research, Colorectal cancer -- Diagnosis, Colorectal cancer -- Genetic aspects, Cancer -- Diagnosis
Abstract

The frequency of germ-line mutations in patients with colorectal cancer is assessed and the strategies for molecular screening to identify patients with the syndrome are examined. The results revealed that the effectiveness of screening with immunohistochemical analysis of the mismatch-repair proteins would be similar to that of the more complex strategy of genotyping for microsatellite instability.

Published
2005

39. Impact of NPM1/FLT3-ITD genotypes defined by the 2017 European LeukemiaNet in patients with acute myeloid leukemia

Author

Döhner, Konstanze, primary, Thiede, Christian, additional, Jahn, Nikolaus, additional, Panina, Ekaterina, additional, Gambietz, Agnes, additional, Larson, Richard A., additional, Prior, Thomas W., additional, Marcucci, Guido, additional, Jones, Dan, additional, Krauter, Jürgen, additional, Heuser, Michael, additional, Voso, Maria Teresa, additional, Ottone, Tiziana, additional, Nomdedeu, Josep F., additional, Mandrekar, Sumithra J., additional, Klisovic, Rebecca B., additional, Wei, Andrew H., additional, Sierra, Jorge, additional, Sanz, Miguel A., additional, Brandwein, Joseph M., additional, de Witte, Theo, additional, Jansen, Joop H., additional, Niederwieser, Dietger, additional, Appelbaum, Frederick R., additional, Medeiros, Bruno C., additional, Tallman, Martin S., additional, Schlenk, Richard F., additional, Ganser, Arnold, additional, Serve, Hubert, additional, Ehninger, Gerhard, additional, Amadori, Sergio, additional, Gathmann, Insa, additional, Benner, Axel, additional, Pallaud, Celine, additional, Stone, Richard M., additional, Döhner, Hartmut, additional, and Bloomfield, Clara D., additional

Published
2020
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44. Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy

Author

Lowes, Linda P., primary, Alfano, Lindsay N., additional, Arnold, W. David, additional, Shell, Richard, additional, Prior, Thomas W., additional, McColly, Markus, additional, Lehman, Kelly J., additional, Church, Kathleen, additional, Sproule, Douglas M., additional, Nagendran, Sukumar, additional, Menier, Melissa, additional, Feltner, Douglas E., additional, Wells, Courtney, additional, Kissel, John T., additional, Al-Zaidy, Samiah, additional, and Mendell, Jerry, additional

Published
2019
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48. Myoblast transfer in the treatment of Duchenne's muscular dystrophy

Author

Mendell, Jerry R., Kissel, John T., Amato, Anthony A., King, Wendy, Signore, Linda, Prior, Thomas W., Sahenk, Zarife, Benson, Sandra, McAndrew, Patricia E., Rice, Robert, Nagaraja, Haikady, Stephens, Ralph, Lantry, Laura, Morris, Glen E., and Burghes, Arthur H.M.

Subjects
Duchenne muscular dystrophy -- Care and treatment, Cellular therapy -- Evaluation, Transplantation of organs, tissues, etc. -- Evaluation
Abstract

Injection of donated muscle cells called myoblasts into the muscles of people with Duchenne's muscular dystrophy does not appear to improve strength. People with Duchenne's muscular dystrophy lack the protein dystrophin in their muscles. For six months, 12 boys with Duchenne's muscular dystrophy received monthly injections of donated myoblasts into one arm and injections of saline into the other arm. The injections were in the biceps and the donated myoblasts were taken from a relative's biceps. Change in muscle strength was the same in both arms of the recipients. Cyclosporine, which was given to half of the recipients, had no impact on muscle strength. Antibody staining of muscle biopsies taken one year after the first injection showed low levels of dystrophin in four recipients. This indicates that the donated cells had fused with host cells and had produced dystrophin.

Published
1995

50. Comparison of Cytogenetic and Molecular Genetic Detection of t(8;21) and inv(16) in a Prospective Series of Adults With De Novo Acute Myeloid Leukemia: A Cancer and Leukemia Group B Study

Author

Mrózek, Krzysztof, Prior, Thomas W., Edwards, Colin, Marcucci, Guido, Carroll, Andrew J., Snyder, Pamela J., . Koduru, Prasad R.K, Theil, Karl S., Pettenati, Mark J., Archer, Kellie J., Caligiuri, Michael A., Vardiman, James W., Kolitz, Jonathan E., Larson, Richard A., and Bloomfield, Clara D.

Published
2001

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