Publications by authors named "Renkui Bai"

25Publications

Comment on the criteria for interpretation of mitochondrial tRNA variants.

Genet Med 2020 Aug 18;22(8):1418-1419. Epub 2020 May 18.

GeneDx, Inc, Gaithersburg, MD, USA.

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http://dx.doi.org/10.1038/s41436-020-0804-7DOI Listing
August 2020

First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.

Clin Genet 2020 May 5;97(5):793-794. Epub 2020 Mar 5.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1111/cge.13708DOI Listing
May 2020

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Mol Genet Metab Rep 2019 Jun 30;19:100472. Epub 2019 Apr 30.

Head Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495215PMC
June 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Mol Genet Metab Rep 2019 Mar 18;18:32-38. Epub 2019 Jan 18.

University of British Columbia, Head Division of Biochemical Genetics, BC Children's Hospital, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183009
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http://dx.doi.org/10.1016/j.ymgmr.2018.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349952PMC
March 2019

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Hum Mutat 2018 06 6;39(6):806-810. Epub 2018 Apr 6.

Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/humu.23422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992054PMC
June 2018

Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

J Clin Neuromuscul Dis 2018 Mar;19(3):117-123

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1097/CND.0000000000000200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824425PMC
March 2018

Two novel mitochondrial tRNA mutations, A7495G (tRNA) and C5577T (tRNA), are associated with seizures and cardiac dysfunction.

Mitochondrion 2016 Nov 28;31:40-44. Epub 2016 Sep 28.

McMaster Children's Hospital, Hamilton, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.09.002DOI Listing
November 2016

De novo mutations in PURA are associated with hypotonia and developmental delay.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850890PMC
October 2015

Citrin deficiency, a perplexing global disorder.

Mol Genet Metab 2009 Jan 25;96(1):44-9. Epub 2008 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.007DOI Listing
January 2009

3-phosphoinositide-dependent protein kinase-1 (PDK1) promotes invasion and activation of matrix metalloproteinases.

BMC Cancer 2006 Mar 21;6:77. Epub 2006 Mar 21.

Department of Oncology, Georgetown University School of Medicine, and Lombardi Comprehensive Cancer Center, Washington, DC, USA.

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http://dx.doi.org/10.1186/1471-2407-6-77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459872PMC
March 2006

Characterization of medroxyprogesterone and DMBA-induced multilineage mammary tumors by gene expression profiling.

Mol Carcinog 2005 Sep;44(1):42-50

Department of Oncology, and Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/mc.20119DOI Listing
September 2005

[beta1 Integrin Dysfunction in Adult Chronic Myeloid Leukemia Bone Marrow Cells]

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2000 Jun;8(2):85-89

Institute of Hematology and People's Hospital, Beijing Medical University, Beijing 100034, China.

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June 2000