U.v.-hypermutability of xeroderma pigmentosum cells demonstrated with a DNA-based mutation system

Autor: Steingrimsdottir H, Beare D, Antony Michael Carr, Cole J, Ar, Lehmann

Publikováno v: Europe PubMed Central

We have developed a DNA-based system, to detect mutations at restriction sites without any selection in culture. DNA is exhaustively digested with a restriction enzyme. Primers flanking a chosen site for this enzyme are used in the polymerase chain r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1fdda5670c910245bf141aa6da8fc4de
https://pubmed.ncbi.nlm.nih.gov/7761106

Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA

Autor: Zabrady K, Adamus M, Vondrova L, Liao C, Skoupilova H, Novakova M, Jurcisinova L, Alt A, Antony Oliver, Ar, Lehmann, Jj, Palecek

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ded116d9295ef578567b935e93986fe
http://europepmc.org/abstract/med/26446992

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Autor: Stafki SA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Turner J; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Littel HR; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Bruels CC; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Truong D; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Knirsch U; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Graf U; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland., Berger W; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland; Neuroscience Center Zurich (NCZ), University and ETH Zürich, Zürich, Switzerland; Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland., Kinali M; Department of Brain Sciences, Imperial College London and Portland Hospital HCA International, London, United Kingdom., Jungbluth H; Evelina Children's Hospital and King's College London, University of Manchester, London, United Kingdom., Pacak CA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Hughes J; Amy and Friends Cockayne Syndrome/Trichothiodystrophy Support, Wirral, United Kingdom., Mirchi A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Derksen A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Theil AF; Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bernard G; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Center, Montreal, Canada., Ellis D; South East Genomics Laboratory Hub, Guy's Hospital, London, United Kingdom., Fassihi H; St. John's Institute of Dermatology, Rare Disease Centre, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom., Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mohammed S; South East Thames Regional Genetics Service and Rare Diseases Centre Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Kang PB; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota. Electronic address: pkang@umn.edu.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2023 Apr; Vol. 141, pp. 79-86. Date of Electronic Publication: 2023 Jan 24.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.

Autor: Botta E; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Theil AF; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands., Raams A; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands., Caligiuri G; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Giachetti S; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Bione S; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Via San Pio X Tricase 73039, Italy., Lombardi A; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands., Swagemakers SMA; Department of Pathology, Clinical Bioinformatics Unit, Erasmus University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands., van der Spek PJ; Department of Pathology, Clinical Bioinformatics Unit, Erasmus University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam 1081 HZ, The Netherlands.; Laboratory of Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands., Hoeijmakers JHJ; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands.; Oncode Institute, Princess Maxima Center for Pediatric Oncology, Utrecht 3584 CS, The Netherlands.; Institute for Genome Stability in Ageing and Disease, CECAD Forschungszentrum, University of Cologne, Cologne 50931, Germany., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO, Cochin 682041, Kerala, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO, Cochin 682041, Kerala, India., Ogi T; Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University, Nagoya 464-8601, Japan.; Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Nagoya 466-8550, Japan., Lehmann AR; Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Famer, Brighton BN1 9RQ, UK., Orioli D; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza' (IGM) CNR, Via Abbiategrasso 207, Pavia 27100, Italy., Vermeulen W; Department of Molecular Genetics, Oncode Institute, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, Rotterdam 3015 GD, The Netherlands.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Aug 28; Vol. 30 (18), pp. 1711-1720.

UBR5 interacts with the replication fork and protects DNA replication from DNA polymerase η toxicity.

Autor: Cipolla L; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza', CNR, Pavia, Italy., Bertoletti F; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza', CNR, Pavia, Italy., Maffia A; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza', CNR, Pavia, Italy., Liang CC; Department of Biochemistry, University of Oxford, Oxford, UK., Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, UK., Cohn MA; Department of Biochemistry, University of Oxford, Oxford, UK., Sabbioneda S; Istituto di Genetica Molecolare 'Luigi Luca Cavalli-Sforza', CNR, Pavia, Italy.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2019 Dec 02; Vol. 47 (21), pp. 11268-11283.