Induced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential

Authors: Fibi Meshrkey, Kelly M. Scheulin, Christopher M. Littlejohn, Joshua Stabach, Bibhuti Saikia, Vedant Thorat, Yimin Huang, Thomas LaFramboise, Edward J. Lesnefsky, Raj R. Rao, Franklin D. West, Shilpa Iyer

Source: Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-22 (2023)

Subject Terms: Mitochondrial disease, hiPSC, Pluripotent stem cell, Reprogramming, Bioenergetics, Respiration, Medicine (General), R5-920, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/1757-6512

Access URL: https://doaj.org/article/da7822bfd6444abb9d4aa5595fa3c1d7

Adaptation to chronic ER stress enforces pancreatic β-cell plasticity

Authors: Chien-Wen Chen, Bo-Jhih Guan, Mohammed R. Alzahrani, Zhaofeng Gao, Long Gao, Syrena Bracey, Jing Wu, Cheikh A. Mbow, Raul Jobava, Leena Haataja, Ajay H. Zalavadia, Ashleigh E. Schaffer, Hugo Lee, Thomas LaFramboise, Ilya Bederman, Peter Arvan, Clayton E. Mathews, Ivan C. Gerling, Klaus H. Kaestner, Boaz Tirosh, Feyza Engin, Maria Hatzoglou

Source: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/adc88863189241eabee325b0cf1b9532

Metagenomic markings of myeloid malignancies

Authors: An Dinh Duy Nguyen, Maryssa Shanteau-Jackson, Thomas LaFramboise

Source: Genes and Diseases, Vol 10, Iss 1, Pp 4-6 (2023)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352304222001908; https://doaj.org/toc/2352-3042

Access URL: https://doaj.org/article/03e9e6c0bd5643b08a6dae433415cb8c

Circulating microbial content in myeloid malignancy patients is associated with disease subtypes and patient outcomes

Authors: Jakob Woerner, Yidi Huang, Stephan Hutter, Carmelo Gurnari, Jesús María Hernández Sánchez, Janet Wang, Yimin Huang, Daniel Schnabel, Michael Aaby, Wanying Xu, Vedant Thorat, Dongxu Jiang, Babal K. Jha, Mehmet Koyuturk, Jaroslaw P. Maciejewski, Torsten Haferlach, Thomas LaFramboise

Source: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/c88a3d229d2e42d081b77068f18c29f0

Exonic variants undergoing allele-specific selection in cancers

Authors: Qiyuan Li, Yuanyuan Zeng, Janet Wang, Hongkun Fang, Jintao Guo, Liying Yu, Taoling Zhong, Chaoqun Xu, Matthew Freedman, Thomas LaFramboise

Source: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)

Subject Terms: Allelic imbalance, Somatic selection, Exonic variants, Copy number, Cancer, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/c38e7daf598b4470a99d29756b39cfb0

Eltrombopag inhibits TET dioxygenase to contribute to hematopoietic stem cell expansion in aplastic anemia

Authors: Yihong Guan, Metis Hasipek, Dongxu Jiang, Anand D. Tiwari, Dale R. Grabowski, Simona Pagliuca, Sunisa Kongkiatkamon, Bhumika Patel, Salendra Singh, Yvonne Parker, Thomas LaFramboise, Daniel Lindner, Mikkael A. Sekeres, Omar Y. Mian, Yogen Saunthararajah, Jaroslaw P. Maciejewski, Babal K. Jha

Source: The Journal of Clinical Investigation, Vol 132, Iss 4 (2022)

Subject Terms: Hematology, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/33fa0ff209d24e1aaf2609619eadb9c2

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes

Authors: Yasunobu Nagata, Hideki Makishima, Cassandra M. Kerr, Bartlomiej P. Przychodzen, Mai Aly, Abhinav Goyal, Hassan Awada, Mohammad Fahad Asad, Teodora Kuzmanovic, Hiromichi Suzuki, Tetsuichi Yoshizato, Kenichi Yoshida, Kenichi Chiba, Hiroko Tanaka, Yuichi Shiraishi, Satoru Miyano, Sudipto Mukherjee, Thomas LaFramboise, Aziz Nazha, Mikkael A. Sekeres, Tomas Radivoyevitch, Torsten Haferlach, Seishi Ogawa, Jaroslaw P. Maciejewski

Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/37f1f1df587f487aa52451ea6ac3c346

CytoConverter: a web-based tool to convert karyotypes to genomic coordinates

Authors: Janet Wang, Thomas LaFramboise

Source: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-6 (2019)

Subject Terms: Cytogenetics, Chromosomal abnormalities, Karyotypes, Text parsing, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-019-3062-4; https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/bd6bdd49f03e41d2af0832f36a16d8ad

Clinical and basic implications of dynamic T cell receptor clonotyping in hematopoietic cell transplantation

Authors: Simona Pagliuca, Carmelo Gurnari, Sanghee Hong, Ran Zhao, Sunisa Kongkiatkamon, Laila Terkawi, Misam Zawit, Yihong Guan, Hassan Awada, Ashwin Kishtagari, Cassandra M. Kerr, Thomas LaFramboise, Bhumika J. Patel, Babal K. Jha, Hetty E. Carraway, Valeria Visconte, Navneet S. Majhail, Betty K. Hamilton, Jaroslaw P. Maciejewski

Source: JCI Insight, Vol 6, Iss 13 (2021)

Subject Terms: Hematology, Immunology, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/720a398ed82f4d6bab113a63c1654381

Mitochondrial DNA Content Is Linked to Cardiovascular Disease Patient Phenotypes

Authors: Ruipeng Wei,, Ying Ni,, Peter Bazeley,, Sneha Grandhi,, Janet Wang,, Samuel T. Li,, Stanley L. Hazen,, W. H. Wilson Tang,, Thomas LaFramboise,

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 4 (2021)

Subject Terms: cardiovascular disease, mitochondrial DNA, blood‐based biomarkers, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/3667804c5caf4c868acead37ec805690

The DNMT1-associated lincRNA DACOR1 reprograms genome-wide DNA methylation in colon cancer

Authors: Saigopal Somasundaram, Megan E Forrest, Helen Moinova, Allison Cohen, Vinay Varadan, Thomas LaFramboise, Sanford Markowitz, Ahmad M Khalil

Source: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-15 (2018)

Subject Terms: Colon cancer, Epigenetics, lincRNAs, Tumorigenesis, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-018-0555-3; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

Access URL: https://doaj.org/article/49138478a5ff4b6ea67a6108cb6f0434

Colon Cancer-Upregulated Long Non-Coding RNA lincDUSP Regulates Cell Cycle Genes and Potentiates Resistance to Apoptosis

Authors: Megan E. Forrest, Alina Saiakhova, Lydia Beard, David A. Buchner, Peter C. Scacheri, Thomas LaFramboise, Sanford Markowitz, Ahmad M. Khalil

Source: Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/77518b1462eb4eb28d2355c0aaf7ae82

Detection and quantification of mitochondrial DNA deletions from next-generation sequence data

Authors: Colleen M. Bosworth, Sneha Grandhi, Meetha P. Gould, Thomas LaFramboise

Source: BMC Bioinformatics, Vol 18, Iss S12, Pp 29-36 (2017)

Subject Terms: Next-generation sequencing, Mitochondria DNA, Human genome, Chromosomal deletions, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-017-1821-7; https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/2f221438c491488aba92399be221c254

Oncogenic PIK3CA mutations reprogram glutamine metabolism in colorectal cancer

Authors: Yujun Hao, Yardena Samuels, Qingling Li, Dawid Krokowski, Bo-Jhih Guan, Chao Wang, Zhicheng Jin, Bohan Dong, Bo Cao, Xiujing Feng, Min Xiang, Claire Xu, Stephen Fink, Neal J. Meropol, Yan Xu, Ronald A. Conlon, Sanford Markowitz, Kenneth W. Kinzler, Victor E. Velculescu, Henri Brunengraber, Joseph E. Willis, Thomas LaFramboise, Maria Hatzoglou, Guo-Fang Zhang, Bert Vogelstein, Zhenghe Wang

Source: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/906e6679c4cc4a669a5f8d6f4ee9c634

The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

Authors: Hieu T. Nguyen, Huong T.T. Le, Liem T. Nguyen, Hua Lou, Thomas LaFramboise

Source: Vietnam Journal of Science, Technology and Engineering, Vol 60, Iss 2 (2018)

Subject Terms: human genetic diseases, massively parallel sequencing, molecular diagnosis, next-generation sequencing, Science

File Description: electronic resource

Relation: https://vietnamscience.vjst.vn/index.php/vjste/article/view/241; https://doaj.org/toc/2525-2461; https://doaj.org/toc/2615-9937

Access URL: https://doaj.org/article/9de4261cc0c0424581a8828c2d67a00e

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Authors: Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah Jin Lian Chen, Thomas LaFramboise, Charis Eng

Source: PLoS Genetics, Vol 14, Iss 4, p e1007352 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5933810?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/0ea3822ce2d74f309026cc4750fda3c8

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.

Authors: Theru A Sivakumaran, Robert P Igo, Jeffrey M Kidd, Andy Itsara, Laura J Kopplin, Wei Chen, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, Emily Y Chew, Vedam L Ramprasad, Wan-Ting Tay, Paul Mitchell, Mark Seielstad, Dwight E Stambolian, Albert O Edwards, Kristine E Lee, Dmitry V Leontiev, Gyungah Jun, Yang Wang, Liping Tian, Feiyou Qiu, Alice K Henning, Thomas LaFramboise, Parveen Sen, Manoharan Aarthi, Ronnie George, Rajiv Raman, Manmath Kumar Das, Lingam Vijaya, Govindasamy Kumaramanickavel, Tien Y Wong, Anand Swaroop, Goncalo R Abecasis, Ronald Klein, Barbara E K Klein, Deborah A Nickerson, Evan E Eichler, Sudha K Iyengar

Source: PLoS ONE, Vol 13, Iss 12, p e0209943 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3f840f4e244c4d6187538a538daff490

Molecular features of early onset adult myelodysplastic syndrome

Authors: Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Tomas Radivoyevitch, Bhumika Patel, Swapna Thota, Michael J. Clemente, Yasunobu Nagata, Thomas LaFramboise, Hetty E. Carraway, Aziz Nazha, Mikkael A. Sekeres, Hideki Makishima, Jaroslaw P. Maciejewski

Source: Haematologica, Vol 102, Iss 6 (2017)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/8093; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/96c1519f90b447dba988dd96b0fc7b35

Correction: PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing.

Authors: Meetha P Gould, Colleen M Bosworth, Sarah McMahon, Sneha Grandhi, Brian T Grimberg, Thomas LaFramboise

Source: PLoS ONE, Vol 11, Iss 5, p e0156884 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4887018?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/1a3ee58b528f43a98f125a15eaca07a1

PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing.

Authors: Meetha P Gould, Colleen M Bosworth, Sarah McMahon, Sneha Grandhi, Brian T Grimberg, Thomas LaFramboise

Source: PLoS ONE, Vol 10, Iss 10, p e0139253 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4619561?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/4b04031480914c42ab232d1b6a6ba343