Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Linchao Lu"'
Autor:
Brittany E Jewell, An Xu, Dandan Zhu, Mo-Fan Huang, Linchao Lu, Mo Liu, Erica L Underwood, Jun Hyoung Park, Huihui Fan, Julian A Gingold, Ruoji Zhou, Jian Tu, Zijun Huo, Ying Liu, Weidong Jin, Yi-Hung Chen, Yitian Xu, Shu-Hsia Chen, Nino Rainusso, Nathaniel K Berg, Danielle A Bazer, Christopher Vellano, Philip Jones, Holger K Eltzschig, Zhongming Zhao, Benny Abraham Kaipparettu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee
Publikováno v:
PLoS Genetics, Vol 17, Iss 12, p e1009971 (2021)
Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 patho
Externí odkaz:
https://doaj.org/article/c2342e4657584eb5b330edbc4ecee86b
Autor:
Brittany E. Jewell, Mo Liu, Linchao Lu, Ruoji Zhou, Jian Tu, Dandan Zhu, Zijun Huo, An Xu, Donghui Wang, Helen Mata, Weidong Jin, Weiya Xia, Pulivarthi H. Rao, Ruiying Zhao, Mien-Chie Hung, Lisa L. Wang, Dung-Fang Lee
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 36-40 (2018)
The DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here
Externí odkaz:
https://doaj.org/article/111daaa429f7402b9073b1f37411ccd6
Autor:
Linchao Lu1,2, Varshney, Shweta1, Youxi Yuan3, Hua-Xing Wei1,4, Tanwar, Ankit1, Sundaram, Subha1, Nauman, Mohd1, Haltiwanger, Robert S.3, Stanley, Pamela1 pamela.stanley@einsteinmed.edu
Publikováno v:
Journal of Biological Chemistry. Dec2023, Vol. 299 Issue 12, p1-14. 14p.
Autor:
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu, Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L. Wang, Wolfram Antonin, Ron D. Jachimowicz, Verena von Felbert, Felix Distelmaier
PURPOSE: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05d2ec608fae328825bb6405c3c0f72
https://doi.org/10.1016/j.gim.2023.100836
https://doi.org/10.1016/j.gim.2023.100836
Autor:
An Xu, Brittany E. Jewell, Dandan Zhu, Mo-Fan Huang, Yi-Hung Chen, Linchao Lu, Ruiying Zhao, Lisa L. Wang, Dung-Fang Lee
Publikováno v:
Cancer Research. 82:3779-3779
Background: Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by a rash that progresses to poikiloderma; small stature; skeletal anomalies; sparse hair, eyelashes, and/or eyebrows, juvenile cataracts, and an inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32bda562e972866a54c5637d2876855c
https://doi.org/10.1158/1538-7445.am2022-3779
https://doi.org/10.1158/1538-7445.am2022-3779
Autor:
Helen Mata, Ruiying Zhao, Donghui Wang, Dandan Zhu, Mien Chie Hung, Jian Tu, Mo Liu, Ruoji Zhou, Dung Fang Lee, Weidong Jin, Lisa L. Wang, Linchao Lu, An Xu, Weiya Xia, Pulivarthi H. Rao, Zijun Huo, Brittany E. Jewell
Publikováno v:
Stem cell research
Stem Cell Research, Vol 33, Iss, Pp 36-40 (2018)
Stem Cell Research, Vol 33, Iss, Pp 36-40 (2018)
The DNA helicase RECQL4 is known for its roles in DNA replication and repair. RECQL4 mutations cause several genetic disorders including Rothmund-Thomson syndrome (RTS), characterized by developmental defects and predisposition to osteosarcoma. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66c20dab82b8337af194b629b85cfa93
https://doi.org/10.1016/j.scr.2018.10.003
https://doi.org/10.1016/j.scr.2018.10.003
Publikováno v:
Advances in experimental medicine and biology. 1258
The RECQ family of DNA helicases is a conserved group of enzymes that plays an important role in maintaining genomic stability. Humans possess five RECQ helicase genes, and mutations in three of them - BLM, WRN, and RECQL4 - are associated with the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cbec747b5d76ef0736cb664524ab3dba
https://pubmed.ncbi.nlm.nih.gov/32767233
https://pubmed.ncbi.nlm.nih.gov/32767233
Publikováno v:
Current Advances in the Science of Osteosarcoma ISBN: 9783030430849
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9d900c7b31b99013e4fbeda479101c9
https://doi.org/10.1007/978-3-030-43085-6_3
https://doi.org/10.1007/978-3-030-43085-6_3
Publikováno v:
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. :768-774
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726e5a58e3ae5fa7a27136efeaada1c3
https://doi.org/10.1002/9781119266594.ch99
https://doi.org/10.1002/9781119266594.ch99