Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Autor: Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Rajkovic, Svetlana A. Yatsenko, Urvashi Surti

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

Abstract Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2‐1 mutations or deletions are the cause of BHC, some BHC families do not have

Externí odkaz: https://doaj.org/article/6c3424bc2ff047dfb5cfdc13a434b42c

Follicular lymphoma-like B cells of uncertain significance (in situ follicular lymphoma) may infrequently progress, but precedes follicular lymphoma, is associated with other overt lymphomas and mimics follicular lymphoma in flow cytometric studies

Autor: Raju K. Pillai, Urvashi Surti, Steven H. Swerdlow

Publikováno v: Haematologica, Vol 98, Iss 10 (2013)

In situ follicular lymphoma, more recently known as follicular lymphoma-like B cells of uncertain/undetermined significance is well accepted. However, the morphological criteria have evolved since it was first described and data are limited and confl

Externí odkaz: https://doaj.org/article/d7a12d428c434865abd6de60aea386d4

Reassessment of small lymphocytic lymphoma in the era of monoclonal B-cell lymphocytosis

Autor: Sarah E. Gibson, Steven H. Swerdlow, Judith A. Ferry, Urvashi Surti, Paola Dal Cin, Nancy Lee Harris, Robert P. Hasserjian

Publikováno v: Haematologica, Vol 96, Iss 8 (2011)

Background In the 2008 World Health Organization classification, small lymphocytic lymphoma is defined as a neoplasm with the tissue morphology and immunophenotype of chronic lymphocytic leukemia, but with absence of leukemia. Minimal criteria of tis

Externí odkaz: https://doaj.org/article/4a53f6f91c6f40d19694a7cd45d15b14

The complete sequence of a human genome

Autor: Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy

Publikováno v: Science (New York, N.Y.), vol 376, iss 6588

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987

Immunophenotypic and Molecular Cytogenetic Associations of CD19 Expression in Acute Myeloid Leukemias, including in the t(8;21) negative setting

Autor: Shweta Bhavsar, Sarika Jain, Svetlana Yatsenko, Urvashi Surti, Steven Swerdlow, Nidhi Aggarwal

Aberrant CD19 expression is common in acute myeloid leukemia (AML) with t(8;21)(q22;q22.1). This study aims to investigate the incidence, clinical, immunophenotypic, molecular and cytogenetic associations of CD19 expression, especially in t(8;21) neg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::914c6d1da4675c0433b0de4b3fd3500b
https://doi.org/10.21203/rs.3.rs-2023169/v1