Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Autor: Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA., Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Macklin-Mantia SK; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA., Boyum GE; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Cong ATQ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Lotze TE; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Mohila CA; Department of Pathology & Immunology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA; Division of Neurology, Children's National Hospital, Washington, DC, USA., Chao KR; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Grunseich C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bruels CC; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Littel HR; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Pais L; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Schellenberg MJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Wierenga KJ; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 989-997. Date of Electronic Publication: 2023 May 10.

BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ.

Autor: Bunch H; Department of Applied Biosciences, College of Agriculture and Life Sciences, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea.; School of Applied Biosciences, College of Agriculture and Life Sciences, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Jeong J; Department of Applied Biosciences, College of Agriculture and Life Sciences, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Kang K; Department of Microbiology, College of Natural Sciences, Dankook University, Cheonan 31116, Republic of Korea., Jo DS; School of Life Sciences, BK21 Four KNU Creative Bioresearch Group, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Cong ATQ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA., Kim D; School of Applied Biosciences, College of Agriculture and Life Sciences, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Kim D; School of Applied Biosciences, College of Agriculture and Life Sciences, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Cho DH; School of Life Sciences, BK21 Four KNU Creative Bioresearch Group, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Lee YM; Vessel-Organ Interaction Research Center, VOICE (MRC), Department of Molecular Pathophysiology, College of Pharmacy, Kyungpook National University, Daegu 41566, Republic of Korea., Chen BPC; Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Schellenberg MJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA., Calderwood SK; Department of Radiation Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

Publikováno v: Open biology [Open Biol] 2021 Oct; Vol. 11 (10), pp. 210221. Date of Electronic Publication: 2021 Oct 06.

Destabilized near-infrared fluorescent nanobodies enable background-free targeting of GFP-based biosensors for imaging and manipulation.

Autor: Barykina, Natalia V., Carey, Erin M., Oliinyk, Olena S., Nimmerjahn, Axel, Verkhusha, Vladislav V.

Publikováno v: Nature Communications; 9/6/2024, Vol. 15 Issue 1, p1-16, 16p

Production and Purification of Cysteine-Rich Leptospiral Virulence-Modifying Proteins with or Without mCherry Fusion.

Autor: Chaurasia, Reetika, Liang, Cathleen, How, Kenneth, Vieira, Dielson S., Vinetz, Joseph M.

Publikováno v: Protein Journal; Dec2023, Vol. 42 Issue 6, p792-801, 10p

Studying RNA Polymerase II Promoter-Proximal Pausing by In Vitro Immobilized Template and Transcription Assays.

Autor: Bunch H; Department of Applied Biosciences, Kyungpook National University, Daegu, Republic of Korea.

Publikováno v: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2693, pp. 13-24.