Publications by authors named "Jakub Tolar"

199Publications

Role of Transforming Growth Factor-β1 in Recessive Dystrophic Epidermolysis Bullosa Squamous Cell Carcinoma.

Exp Dermatol 2021 Feb 17. Epub 2021 Feb 17.

Stem Cell Institute, University of Minnesota, Minneapolis, MN, 55445, USA.

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February 2021

Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.

Lipids 2020 11 14;55(6):627-637. Epub 2020 Jun 14.

Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, 1124 W. Carson Street, Torrance, CA, 90502, USA.

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November 2020

Leading edge: emerging drug, cell, and gene therapies for junctional epidermolysis bullosa.

Expert Opin Biol Ther 2020 08 20;20(8):911-923. Epub 2020 Mar 20.

Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota , Minneapolis, MN, USA.

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August 2020

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

J Hum Genet 2020 Jan 28;65(2):79-89. Epub 2019 Nov 28.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.

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January 2020

Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.

Sci Rep 2019 Oct 1;9(1):14105. Epub 2019 Oct 1.

University of Minnesota, Division of Pediatric Blood and Marrow Transplant, Minneapolis, 55455, USA.

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October 2019

TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis.

J Bone Joint Surg Am 2019 Nov;101(21):1939-1947

Stem Cell Institute (W.C., K.T., and J.T.) and Division of Blood and Marrow Transplantation (C.E., M.J.R., P.J.O., and J.T.), Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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November 2019

A homozygous frameshift variant in the gene is compatible with life and results in severe recessive epidermolysis bullosa simplex.

JAAD Case Rep 2019 Jul 26;5(7):576-579. Epub 2019 Jun 26.

Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota.

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July 2019

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.

Genet Med 2019 11 25;21(11):2552-2560. Epub 2019 Apr 25.

Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.

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November 2019