Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan

2022 ◽  
Author(s):  
Hideo Kaneko ◽  
Minoru Takemoto ◽  
Hiroaki Murakami ◽  
Kenji Ihara ◽  
Rika Kosaki ◽  
...  
Keyword(s):  
Rothmund Thomson Syndrome

Rothmund-Thomson syndrome: A case report

2002 ◽  
Vol 94 (4) ◽  
pp. 479-484 ◽  
Author(s):  
M.Cenk Haytaç ◽  
Haluk Öztunç ◽  
Ufuk Ö. Mete ◽  
Mehmet Kaya
Keyword(s):  
Case Report ◽  
Rothmund Thomson Syndrome

scholarly journals RecQ helicases: suppressors of tumorigenesis and premature aging

2003 ◽  
Vol 374 (3) ◽  
pp. 577-606 ◽  
Author(s):  
Csanád Z. BACHRATI ◽  
Ian D. HICKSON
Keyword(s):  
Replication Fork ◽  
Germ Line ◽  
Genetic Disorders ◽  
Premature Aging ◽  
Recq Helicase ◽  
Dna Helicases ◽  
Recq Helicases ◽  
Protein Partners ◽  
Line Defects ◽  
Rothmund Thomson Syndrome

The RecQ helicases represent a subfamily of DNA helicases that are highly conserved in evolution. Loss of RecQ helicase function leads to a breakdown in the maintenance of genome integrity, in particular hyper-recombination. Germ-line defects in three of the five known human RecQ helicases give rise to defined genetic disorders associated with cancer predisposition and/or premature aging. These are Bloom's syndrome, Werner's syndrome and Rothmund–Thomson syndrome, which are caused by defects in the genes BLM, WRN and RECQ4 respectively. Here we review the properties of RecQ helicases in organisms from bacteria to humans, with an emphasis on the biochemical functions of these enzymes and the range of protein partners that they operate with. We will discuss models in which RecQ helicases are required to protect against replication fork demise, either through prevention of fork breakdown or restoration of productive DNA synthesis.

scholarly journals Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

2021 ◽  
Author(s):  
B. Zirn ◽  
U. Bernbeck ◽  
K. Alt ◽  
F. Oeffner ◽  
A. Gerhardinger ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Syndrome Type ◽  
Rothmund Thomson Syndrome

scholarly journals A Patient With Rothmund-Thomson Syndrome and All Features of RAPADILINO

2005 ◽  
Vol 141 (5) ◽  
Author(s):  
Richard Kellermayer ◽  
H. Annika Siitonen ◽  
Kinga Hadzsiev ◽  
Marjo Kestilä ◽  
György Kosztolányi
Keyword(s):  
Rothmund Thomson Syndrome

Rothmund-Thomson Syndrome Associated with Annular Pancreas and Duodenal Stenosis: A Case Report

1993 ◽  
Vol 10 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Howard S. Blaustein ◽  
Amy W. Stevens ◽  
Peter D. Stevens ◽  
Marc E. Grossman
Keyword(s):  
Case Report ◽  
Annular Pancreas ◽  
Duodenal Stenosis ◽  
Rothmund Thomson Syndrome

scholarly journals The Rothmund Thomson syndrome: about 2 cases

2019 ◽  
Vol 10 (e) ◽  
pp. e23.1-e23.3
Author(s):  
Abdellah Dah Cherif
Keyword(s):  
Rothmund Thomson Syndrome

Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome

DNA Repair ◽  
2006 ◽  
Vol 5 (2) ◽  
pp. 172-180 ◽  
Author(s):  
Margaret A. Macris ◽  
Lumir Krejci ◽  
Wendy Bussen ◽  
Akira Shimamoto ◽  
Patrick Sung
Keyword(s):  
Biochemical Characterization ◽  
Rothmund Thomson Syndrome

scholarly journals p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization

2009 ◽  
Vol 122 (8) ◽  
pp. 1258-1267 ◽  
Author(s):  
T. Dietschy ◽  
I. Shevelev ◽  
J. Pena-Diaz ◽  
D. Huhn ◽  
S. Kuenzle ◽  
...  
Keyword(s):  
Subcellular Localization ◽  
Gene Product ◽  
Rothmund Thomson Syndrome
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