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      Niklas Dahl’

      Niklas Dahl’

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      Department of Immunology, Genetics and Pathology, Uppsala University and Children’s Hospital, 751 85 Uppsala, Sweden;, niklas.dahl@igp.uu.se | Department of Immunology, ...

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      Niklas Dahl’:Expert Impact

      Concepts for whichNiklas Dahl’has direct influence:Ribosomal protein,Blackfan anemia,Human pair,Myotubular myopathy,Linkage analysis,Ids gene,Missense mutation.

      Niklas Dahl’:KOL impact

      Concepts related to the work of other authors for whichfor which Niklas Dahl’ has influence:Friedreich ataxia,Ribosomal protein,Gaucher disease,Bile acids,Blackfan anemia,Intrahepatic cholestasis,Amelogenesis imperfecta.

      KOL Resume for Niklas Dahl’

      Year
      2022

      Department of Immunology, Genetics and Pathology, Uppsala University and Children’s Hospital, 751 85 Uppsala, Sweden;,

      2021

      Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden

      2020

      Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden

      2019

      Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Box 815, 751 08 Uppsala, Sweden. Electronic address:

      2018

      Department of Immunology, Genetics and Pathology, Uppsala University and Uppsala University Hospital, Uppsala, Sweden

      2017

      Uppsala University Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala Sweden

      2016

      Uppsala University, Science for Life Laboratory, Department of Immunology, Genetics and Pathology, BMC, Box 815, 751 08 Uppsala, Sweden

      2015

      Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden

      2014

      Uppsala University Children's Hospital Uppsala Sweden

      2013

      Uppsala University Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala Sweden

      2012

      Department of Immunology, Genetics and Pathology, Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, Uppsala 751 85, Sweden

      2011

      Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden

      2010

      Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, SE‐751 85 Uppsala, Sweden

      2009

      Department of Genetics and Pathology, the Rudbeck Laboratory, Uppsala University

      2008

      Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, 751 85, Uppsala, Sweden

      2007

      Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden

      2006

      Department of genetics and pathology, Section of Clinical Genetics The Rudbeck laboratory, Uppsala University, 751 85, Uppsala, Sweden

      2005

      Department of Genetics and Pathology, Uppsala University, The Rudbeck laboratory, SE-751 85, Uppsala, Sweden

      2004

      Reprints: Stefan Karlsson, Molecular Medicine and Gene Therapy, Lund University Hospital, BMC A12, 221 84 Lund, Sweden; e-mail: Stefan. Karlsson{at}molmed.lu.se.

      Department of Genetics and Pathology, The Rudbeck Laboratory

      Unit of Clinical Genetics, Uppsala University Hospital, Sweden

      2003

      Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University Hospital, Uppsala, Sweden

      2002

      From the Department of Cell Physiology, UMC St Radboud, Nijmegen, The Netherlands, Departments of Clinical Genetics and Pediatrics, Uppsala University Children’s Hospital, Uppsala, Sweden, and Department of Cellular Molecular Physiology, Yale University, New Haven, Connecticut

      Section of Clinical Genetics, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, Uppsala,

      2000

      Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University Children's Hospital, S‐751 85 Uppsala, Sweden.

      Department of Clinical Genetics, Akademiska Sjukhuset, Uppsala University, Sweden

      1999

      Unit of Clinical Genetics, Department of Genetics and Pathology, Uppsala University Children's Hospital, Uppsala, Sweden

      1998

      Unit of Clinical Genetics, University Hospital of Lund, Sweden

      Department of Pediatrics, University of California, Irvine, California, 92697

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      Sample of concepts for which Niklas Dahl’ is among the top experts in the world.
      Concept World rank
      common threemarker haplotype #1
      n48k anhidrosis #1
      ichthyin epidermis #1
      norrbottnian swedish #1
      nm0010114 #1
      18 patients arci #1
      medrelated symptoms #1
      cumulative zmax #1
      12 prenatal diagnoses #1
      fzd6 frizzled 6 #1
      3239gc #1
      dba tec #1
      m123v substitution #1
      spontaneous remission meningocele #1
      psach 2 individuals #1
      dentition ectodermal #1
      finnish swedish origin #1
      genetic abnormalities dba #1
      medial epicanthus #1
      stress granulae proteins #1
      dba spontaneous remission #1
      19q13 region human #1
      population‐based isolated #1
      fzd6gprotein coupling #1
      autosomal recessive keratosis #1
      addition rp genes #1
      fraxpositive result case #1
      iii gd swedish #1
      malformations3–7 #1
      dfna12 locus #1
      fourth pregnancy parent #1
      s19 binds #1
      haplotype ips #1
      fibrefish analysis #1
      revealed homozygosity #1
      recurrent gata1 mutations #1
      w52r #1
      anemia spontaneous #1
      r80s g138e #1
      3795at transversion #1
      families pfic #1
      meningocele diamondblackfan anemia #1
      meningocele daughter #1
      complete t21 #1
      py65ffs50 #1
      inherited dba #1
      pomp epidermis #1
      mutations oligodontia #1
      psach phenotypic #1
      locus dxs304 #1
      Sign-in to see all concepts, it's free!

      Prominent publications by Niklas Dahl’

      KOL-Index: 11709

      Previous studies of high-risk breast cancer families have proposed that two major breast cancer-susceptibility genes, BRCA1 and BRCA2, may account for at least two-thirds of all hereditary breast cancer. We have screened index cases from 106 Scandinavian (mainly southern Swedish) breast cancer and breast-ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using the protein-truncation test, SSCP analysis, or direct sequencing. A total of 24 ...

      Known for Breast Cancer | Brca1 Brca2 Mutations | Frequency Genes | Brca2 Germ | Direct Sequencing
      KOL-Index: 11667

      Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia in which 25% of the patients have a mutation in the ribosomal protein S19 (RPS19) gene. To study effects of RPS19 deficiency in hematopoiesis we transduced CD34(+) umbilical cord blood (CB) and bone marrow (BM) cells with 3 lentiviral vectors expressing small interfering RNA (siRNA) against RPS19 and 1 scrambled control vector. All vectors also express green fluorescent protein (GFP). Transduction with the siRNA vectors ...

      Known for Ribosomal Protein | Erythroid Development | Blackfan Anemia | Messenger Rna | Small Interfering Receptors
      KOL-Index: 11547

      BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS.

      METHODS AND RESULTS: We report on a family with recurrent fetal loss, where ...

      Known for Fetal Akinesia | Musk Fads | Deformation Sequence | Exome Sequencing | Congenital Myasthenic Syndrome
      KOL-Index: 11419

      Oligodontia is defined as the congenital lack of six or more permanent teeth, excluding third molars. Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes. Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation ...

      Known for Isolated Oligodontia | Pax9 Genes | Permanent Teeth | Mutations Axin2 | Msx1 Transcription
      KOL-Index: 11228

      Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and approximately 35% of patients carry mutations in either of the SPG11 or SPG15 genes. Disease onset is during the first three decades of life with spastic paraplegia and mental impairment. Peripheral neuropathy and amyotrophy may occur. Kjellin syndrome is characterized by central retinal degeneration in addition to ARHSP-TCC and the disease is associated with ...

      Known for Spastic Paraplegia | Kjellin Syndrome | Spg11 Mutations | Corpus Callosum | Central Retinal Degeneration
      KOL-Index: 10968

      Adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms features micturition urgency, constipation, erectile dysfunction, and orthostatic hypotension, usually followed by pyramidal signs and ataxia. Peripheral nerve conduction is normal. The disease is often mistaken for multiple sclerosis in the initial phase. There is a characteristic pattern of white matter changes in the brain and spinal cord on magnetic resonance imaging (MRI), mild atrophy of the brain, and a ...

      Known for Autonomic Symptoms | Lamin Adld | Autosomal Dominant | Peripheral Leukocytes | Lmnb1 Duplications
      KOL-Index: 10901

      In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of ...

      Known for Abcr Gene | Stargardt Disease | Founder Mutation | Stgd Patients | Linkage Disequilibrium
      KOL-Index: 10596

      Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Since some patients with DBA develop a reduction in thrombocytes and granulocytes with age, we asked whether multipotent hematopoietic progenitors from DBA patients had normal proliferative capacity in liquid expansion cultures. CD34(+) cells derived from DBA patients showed deficient proliferation in liquid culture containing IL-3, IL-6, and SCF. ...

      Known for Blackfan Anemia | Dba Patients | Hematopoietic Progenitors | Rps19 Gene | Ribosomal Protein
      KOL-Index: 10213

      PURPOSE: To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2.

      METHODS: Venous blood samples were obtained from six family members and screened for mutations in VMD2. Six individuals were examined clinically, four of whom were further investigated with full-field electroretinography (ERG), electro-oculography (EOG), multifocal electroretinography (mfERG), and optical coherence tomography (OCT).

      RESULTS: The VMD2 ...

      Known for Macular Dystrophy | Compound Heterozygous Mutations | Optical Coherence | Multifocal Electroretinography | Abnormal Eog
      KOL-Index: 9833

      A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 markers, in Xq27.3 and proximal Xq28. Other loci from the proximal half of Xq28 (DXS49, DXS256, DXS258, DXS305, and DXS497) were found intact. As the X-linked myotubular myopathy locus (MTM1) was ...

      Known for Myotubular Myopathy | Mtm1 Gene | Kb Region | Proximal Xq28 | Hunter Syndrome
      KOL-Index: 9758

      BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is ...

      Known for Nf1 Locus | Segmental Duplications | Resolution Array | Atypical Deletions | Human Pair
      KOL-Index: 9695

      BACKGROUND: Progesterone receptor membrane component 1 (PGRMC1) is a member of a progesterone-binding complex implicated in female reproduction. We aimed i) to determine the natural expression of PGRMC1 in peripheral nucleated blood cells throughout the menstrual cycle and ii) to investigate any association between PGRMC1 levels in leukocytes and conditions characterized by reduced fertility.

      METHODS: We analyzed PGRMC1 expression in peripheral leukocytes from 15 healthy cycling women ...

      Known for Premature Ovarian Failure | Polycystic Ovary Syndrome | Menstrual Cycle | Progesterone Receptor | Membrane Component
      KOL-Index: 9184

      Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Forty percent of the patients are blood transfusion-dependent. Recent reports show that the ribosomal protein S19 (RPS19) gene is mutated in 25% of all patients with DBA. We constructed oncoretroviral vectors containing the RPS19 gene to develop gene therapy for RPS19-deficient DBA. These vectors were used to introduce the RPS19 gene into CD34(+) ...

      Known for Gene Transfer | Blackfan Anemia | Deficient Diamond | Patients Dba | Ribosomal Protein

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      Department of Immunology, Genetics and Pathology, Uppsala University and Children’s Hospital, 751 85 Uppsala, Sweden;, niklas.dahl@igp.uu.se | Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden | Department of Immun

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