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Träfflista för sökning "WFRF:(Schaffrath R.) "

Search: WFRF:(Schaffrath R.)

  • Result 1-5 of 5
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1.
  • Bentham, James, et al. (author)
  • A century of trends in adult human height
  • 2016
  • In: eLIFE. - 2050-084X. ; 5
  • Journal article (peer-reviewed)abstract
    • Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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2.
  • Bentham, James, et al. (author)
  • A century of trends in adult human height
  • 2016
  • In: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
  • Journal article (peer-reviewed)abstract
    • Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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4.
  • Carmona-Gutierrez, D., et al. (author)
  • Guidelines and recommendations on yeast cell death nomenclature
  • 2018
  • In: Microbial Cell. - : Shared Science Publishers OG. - 2311-2638. ; 5:1, s. 4-31
  • Research review (peer-reviewed)abstract
    • Elucidating the biology of yeast in its full complexity has major implications for science, medicine and industry. One of the most critical processes determining yeast life and physiology is cellular demise. However, the investigation of yeast cell death is a relatively young field, and a widely accepted set of concepts and terms is still missing. Here, we propose unified criteria for the definition of accidental, regulated, and programmed forms of cell death in yeast based on a series of morphological and biochemical criteria. Specifically, we provide consensus guidelines on the differential definition of terms including apoptosis, regulated necrosis, and autophagic cell death, as we refer to additional cell death routines that are relevant for the biology of (at least some species of) yeast. As this area of investigation advances rapidly, changes and extensions to this set of recommendations will be implemented in the years to come. Nonetheless, we strongly encourage the authors, reviewers and editors of scientific articles to adopt these collective standards in order to establish an accurate framework for yeast cell death research and, ultimately, to accelerate the progress of this vibrant field of research.
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5.
  • Shankar, Suma P., et al. (author)
  • A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
  • 2022
  • In: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 24:7, s. 1567-1582
  • Journal article (peer-reviewed)abstract
    • Purpose: Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs). Methods: Molecular testing was performed using exome or genome sequencing. A targeted Dph5 knockin mouse (C57BL/6Ncrl-Dph5em1Mbp/Mmucd) was created for a DPH5 p.His260Arg homozygous variant identified in 1 family. Adenosine diphosphate–ribosylation assays in DPH5-knockout human and yeast cells and in silico modeling were performed for the identified DPH5 potential pathogenic variants. Results: DPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages. Dph5 p.His260Arg homozygous knockin was embryonically lethal with only 1 subviable mouse exhibiting impaired growth, craniofacial dysmorphology, and multisystem dysfunction recapitulating the human phenotype. Adenosine diphosphate–ribosylation assays showed absent to decreased function in DPH5-knockout human and yeast cells. In silico modeling of the variants showed altered DPH5 structure and disruption of its interaction with eEF2. Conclusion: We provide strong clinical, biochemical, and functional evidence for DPH5 as a novel cause of embryonic lethality or profound NDDs with multisystem involvement and expand diphthamide-deficiency syndromes and ribosomopathies.
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  • Result 1-5 of 5
Type of publication
journal article (4)
research review (1)
Type of content
peer-reviewed (5)
Author/Editor
Peeters, Petra H (3)
Overvad, Kim (3)
Kaaks, Rudolf (3)
Boeing, Heiner (3)
Trichopoulou, Antoni ... (3)
Norat, Teresa (3)
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Riboli, Elio (3)
Joffres, Michel (3)
McKee, Martin (3)
Salomaa, Veikko (3)
Lundqvist, Annamari (3)
Giwercman, Aleksande ... (3)
Wade, Alisha N. (3)
Cooper, Cyrus (3)
Hardy, Rebecca (3)
Sunyer, Jordi (3)
Brenner, Hermann (3)
Claessens, Frank (3)
Craig, Cora L. (3)
Sjostrom, Michael (3)
Adams, Robert (3)
Thijs, Lutgarde (3)
Staessen, Jan A (3)
Schutte, Aletta E. (3)
Farzadfar, Farshad (3)
Geleijnse, Johanna M ... (3)
Guessous, Idris (3)
Jonas, Jost B. (3)
Kasaeian, Amir (3)
Khader, Yousef Saleh (3)
Khang, Young-Ho (3)
Lotufo, Paulo A. (3)
Malekzadeh, Reza (3)
Mensink, Gert B. M. (3)
Mohan, Viswanathan (3)
Nagel, Gabriele (3)
Qorbani, Mostafa (3)
Rivera, Juan A. (3)
Sepanlou, Sadaf G. (3)
Szponar, Lucjan (3)
Alkerwi, Ala'a (3)
Bjertness, Espen (3)
Kengne, Andre P. (3)
McGarvey, Stephen T. (3)
Shiri, Rahman (3)
Topor-Madry, Roman (3)
Branca, Francesco (3)
Damasceno, Albertino (3)
Michaelsen, Kim F (3)
Murphy, Neil (3)
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University
University of Gothenburg (4)
Umeå University (2)
Uppsala University (2)
Luleå University of Technology (2)
Stockholm University (1)
Lund University (1)
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Chalmers University of Technology (1)
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Language
English (5)
Research subject (UKÄ/SCB)
Medical and Health Sciences (5)
Natural sciences (2)

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