Publications by authors named "Alison A Bertuch"

65Publications

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Hum Mutat 2020 Aug 12. Epub 2020 Aug 12.

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.

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http://dx.doi.org/10.1002/humu.24092DOI Listing
August 2020

Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis.

Sci Rep 2019 07 23;9(1):10607. Epub 2019 Jul 23.

Graduate Program in Integrative Molecular and Biomedical Sciences, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s41598-019-46840-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650470PMC
July 2019

Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.

Pediatr Blood Cancer 2019 08 2;66(8):e27779. Epub 2019 May 2.

Department of Pediatrics, Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/pbc.27779DOI Listing
August 2019

Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation.

Leuk Lymphoma 2019 04 2;60(4):1083-1086. Epub 2018 Oct 2.

a Department of Pediatrics, Section of Hematology and Oncology , Baylor College of Medicine , Houston , TX , USA.

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http://dx.doi.org/10.1080/10428194.2018.1516883DOI Listing
April 2019

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Pediatr Blood Cancer 2019 01 10;66(1):e27439. Epub 2018 Sep 10.

Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.

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http://doi.wiley.com/10.1002/pbc.27439
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http://dx.doi.org/10.1002/pbc.27439DOI Listing
January 2019

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Blood Adv 2018 06;2(11):1243-1249

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; and.

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http://dx.doi.org/10.1182/bloodadvances.2018016964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998921PMC
June 2018

Structural Insights into Yeast Telomerase Recruitment to Telomeres.

Cell 2018 01 28;172(1-2):331-343.e13. Epub 2017 Dec 28.

Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, China; Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, 200025 Shanghai, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674173145
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http://dx.doi.org/10.1016/j.cell.2017.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839504PMC
January 2018

Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.

Cytometry B Clin Cytom 2018 07 27;94(4):699-704. Epub 2017 Jun 27.

Pathology and Immunology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.

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http://dx.doi.org/10.1002/cyto.b.21536DOI Listing
July 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.

J Clin Oncol 2016 11;34(31):3766-3772

Robert B. Gerbing and Todd A. Alonzo, Children's Oncology Group, Monrovia; Todd A. Alonzo, University of Southern California, Los Angeles, CA; Lillian Sung, Hospital for Sick Children, Toronto, Ontario, Canada; Alan S. Gamis, Children's Mercy Hospitals and Clinics, Kansas City, MO; Soheil Meshinchi, University of Washington School of Medicine, Seattle, WA; and Sharon E. Plon, Alison A. Bertuch, and Maria M. Gramatges, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1200/JCO.2016.66.9622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446304PMC
November 2016

Consider the workhorse: Nonhomologous end-joining in budding yeast.

Biochem Cell Biol 2016 Oct 31;94(5):396-406. Epub 2016 Mar 31.

b Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1139/bcb-2016-0001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367924PMC
October 2016

Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.

Pediatr Blood Cancer 2016 08 21;63(8):1484-7. Epub 2016 Apr 21.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/pbc.26032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916014PMC
August 2016

The molecular genetics of the telomere biology disorders.

Authors:
Alison A Bertuch

RNA Biol 2016 08 23;13(8):696-706. Epub 2015 Sep 23.

a Departments of Pediatrics and Molecular & Human Genetics , Baylor College of Medicine , Houston , TX , USA.

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http://dx.doi.org/10.1080/15476286.2015.1094596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993306PMC
August 2016

Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae.

G3 (Bethesda) 2015 May 4;5(7):1379-89. Epub 2015 May 4.

Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, Texas 77030 Department of Pediatrics and Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030

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http://g3journal.org/lookup/doi/10.1534/g3.115.018721
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http://dx.doi.org/10.1534/g3.115.018721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502372PMC
May 2015

Germline mutations in shelterin complex genes are associated with familial glioma.

J Natl Cancer Inst 2015 Jan 7;107(1):384. Epub 2014 Dec 7.

Affiliations of authors: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX (MNB, SNJ, HD, LL, JT, DMM, RAG); Codified Genomics, LLC, Houston, TX (MNB); Department of Pediatrics, Division of Hematology-Oncology, Dan L. Duncan Cancer Center (GNA, MMG, AAB, ST, YL, SEP, CCL, DWP, MLB) and Department of Neurosurgery (AJ), Baylor College of Medicine, Houston, TX; Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT (EBC); Department of Neurosurgery, Brigham and Women's Hospital, Boston, MA (EBC); Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH (JBS); Department of Epidemiology and Biostatistics, Georgia State University School of Public Health, Atlanta, GA (DI); Cancer Control and Prevention Program, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC (DI, JS); Department of Surgery, Duke University Medical Center, Durham, North Carolina (FAO); Cancer and Radiation Epidemiology Unit, Gertner Institute, Chaim Sheba Medical Center, Tel Hashomer (SS); Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel (SiS); Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen, Denmark (CJ); Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK (RSH); Mayo Clinic Comprehensive Cancer Center, Mayo Clinic, Rochester, MN (RBJ, DL); Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY (SHO, JLB); Department of Neurology, NorthShore University HealthSystem, Evanston, IL (RTM); Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA (MRW, KMW); Department of Public Health Services, University of Alberta, Edmonton, Alberta, Canada (FGD); Departments of Neurology, Neurosurgery, and Preventive Medicine, University of Southern California Keck School of Medicine, Los Angeles, CA (RL); Department of Biostatistics (Sa

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http://dx.doi.org/10.1093/jnci/dju384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296199PMC
January 2015

A new mutant at the end: TPP1, telomeres, and BMF.

Authors:
Alison A Bertuch

Blood 2014 Oct;124(18):2757-8

BAYLOR COLLEGE OF MEDICINE.

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http://dx.doi.org/10.1182/blood-2014-09-599688DOI Listing
October 2014

The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres.

Genetics 2014 Aug 30;197(4):1123-36. Epub 2014 May 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, Texas 77030 Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030

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http://dx.doi.org/10.1534/genetics.114.164707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125388PMC
August 2014

Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification.

J Biol Chem 2014 Apr 24;289(15):10308-17. Epub 2014 Feb 24.

From the Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065.

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http://www.jbc.org/content/289/15/10308.full.pdf
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http://www.jbc.org/cgi/doi/10.1074/jbc.M113.526178
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http://dx.doi.org/10.1074/jbc.M113.526178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036155PMC
April 2014

TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres.

Cell Rep 2013 Oct 3;5(1):194-206. Epub 2013 Oct 3.

Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.celrep.2013.08.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984498PMC
October 2013

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Transl Res 2013 Dec 1;162(6):353-63. Epub 2013 Jun 1.

Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex.

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http://dx.doi.org/10.1016/j.trsl.2013.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834083PMC
December 2013

An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control.

BMC Genomics 2012 Nov 23;13:664. Epub 2012 Nov 23.

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1186/1471-2164-13-664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564818PMC
November 2012

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.

Leuk Lymphoma 2013 Jan 9;54(1):28-35. Epub 2012 Jul 9.

Section of Hematology/Oncology, Department of Medicine and Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.

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http://www.tandfonline.com/doi/full/10.3109/10428194.2012.70
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http://dx.doi.org/10.3109/10428194.2012.701738DOI Listing
January 2013

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

Am J Hematol 2012 May 3;87(5):461-4. Epub 2012 Mar 3.

Pediatrics, Section of Hematology and Oncology, Baylor College of Medicine, 6701 Fannin Street, Houston, TX 77030-2399, USA.

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http://doi.wiley.com/10.1002/ajh.23140
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http://dx.doi.org/10.1002/ajh.23140DOI Listing
May 2012

A role for heterochromatin protein 1γ at human telomeres.

Genes Dev 2011 Sep 24;25(17):1807-19. Epub 2011 Aug 24.

Molecular Pathogenesis Program, Department of Pathology, Kimmel Center for Biology and Medicine of the Skirball Institute, New York University School of Medicine, New York, New York 10016, USA.

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http://genesdev.cshlp.org/cgi/doi/10.1101/gad.17325211
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http://dx.doi.org/10.1101/gad.17325211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175717PMC
September 2011

Ku must load directly onto the chromosome end in order to mediate its telomeric functions.

PLoS Genet 2011 Aug 11;7(8):e1002233. Epub 2011 Aug 11.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1002233
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http://dx.doi.org/10.1371/journal.pgen.1002233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154960PMC
August 2011

Dyskeratosis congenita as a disorder of telomere maintenance.

Mutat Res 2012 Feb 2;730(1-2):43-51. Epub 2011 Jul 2.

Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.mrfmmm.2011.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208805PMC
February 2012

The genetics and clinical manifestations of telomere biology disorders.

Genet Med 2010 Dec;12(12):753-64

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/GIM.0b013e3181f415b5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825100PMC
December 2010

Measuring relative telomere length: is tissue an issue?

Aging (Albany NY) 2010 Nov;2(11):756-7

Department of Pediatrics, Baylor College of Medicine, BCM320, Houston, TX 77030, USA.

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http://www.aging-us.com/article/100236
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006017PMC
http://dx.doi.org/10.18632/aging.100236DOI Listing
November 2010

The role of telomeres and telomerase in cancer research.

Cancer Res 2010 Oct 14;70(19):7365-71. Epub 2010 Sep 14.

Department of Cell Biology, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-10-1373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948573PMC
October 2010

Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3).

Pediatr Blood Cancer 2010 Jul;54(7):1041-4

Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/pbc.22437DOI Listing
July 2010

Modeling growth and telomere dynamics in Saccharomyces cerevisiae.

J Theor Biol 2010 Apr 16;263(3):353-9. Epub 2009 Dec 16.

Trinity University, Mathematics Department, One Trinity Place, San Antonio, TX 78212, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002251930900571
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http://dx.doi.org/10.1016/j.jtbi.2009.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832845PMC
April 2010

The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences.

Genetics 2009 Oct 3;183(2):453-67, 1SI-13SI. Epub 2009 Aug 3.

Institute of Genetics, University of Nottingham, Medical School, Queen's Medical Centre, Nottingham, UK.

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http://www.genetics.org/cgi/doi/10.1534/genetics.109.106682
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http://dx.doi.org/10.1534/genetics.109.106682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766309PMC
October 2009

Ku's essential role in keeping telomeres intact.

Proc Natl Acad Sci U S A 2009 Jul 21;106(30):12217-8. Epub 2009 Jul 21.

Department of Pediatrics, Hematology/Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1073/pnas.0906427106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718394PMC
July 2009

Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy.

Pediatr Blood Cancer 2009 Jul;53(1):23-7

Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/pbc.21981DOI Listing
July 2009

Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions.

Nat Struct Mol Biol 2007 Apr 11;14(4):301-7. Epub 2007 Mar 11.

Department of Pediatrics, Hematology/Oncology Section, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, Texas 77030-3411, USA.

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http://www.nature.com/articles/nsmb1214
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http://dx.doi.org/10.1038/nsmb1214DOI Listing
April 2007

The maintenance and masking of chromosome termini.

Curr Opin Cell Biol 2006 Jun 8;18(3):247-53. Epub 2006 May 8.

Department of Pediatrics, Hematology/Oncology Section, Baylor College of Medicine, Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S095506740600055
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http://dx.doi.org/10.1016/j.ceb.2006.04.005DOI Listing
June 2006

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.

Hum Mol Genet 2005 Dec 27;14(23):3723-40. Epub 2005 Oct 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddi403DOI Listing
December 2005

EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae.

Genetics 2004 Apr;166(4):1651-9

Department of Molecular and Human Genetics, Hematology/Oncology Section, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1470828PMC
http://dx.doi.org/10.1534/genetics.166.4.1651DOI Listing
April 2004

The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini.

Mol Cell Biol 2003 Nov;23(22):8202-15

Department of Pediatrics, Hematology/Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC262345PMC
http://dx.doi.org/10.1128/mcb.23.22.8202-8215.2003DOI Listing
November 2003

Which end: dissecting Ku's function at telomeres and double-strand breaks.

Genes Dev 2003 Oct;17(19):2347-50

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1101/gad.1146603DOI Listing
October 2003

The way to the end matters--the role of telomerase in tumor progression.

Cell Cycle 2003 Jan-Feb;2(1):36-8

Department of Molecular and Human Genetics, Hematology/Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.4161/cc.2.1.278DOI Listing
August 2003

Telomeres: the molecular events driving end-to-end fusions.

Authors:
Alison A Bertuch

Curr Biol 2002 Oct;12(21):R738-40

Department of Pediatrics, Hematology/Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/s0960-9822(02)01252-6DOI Listing
October 2002