Q
Qin Liu
Researcher at Massachusetts Eye and Ear Infirmary
Publications - 43
Citations - 3488
Qin Liu is an academic researcher from Massachusetts Eye and Ear Infirmary. The author has contributed to research in topics: Retinal degeneration & Retinitis pigmentosa. The author has an hindex of 23, co-authored 42 publications receiving 3058 citations. Previous affiliations of Qin Liu include Wistar Institute & University of Pennsylvania.
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Journal ArticleDOI
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Journal ArticleDOI
The Proteome of the Mouse Photoreceptor Sensory Cilium Complex
Qin Liu,Glenn Tan,Natasha Levenkova,Tiansen Li,Edward N. Pugh,John J. Rux,David W. Speicher,Eric A. Pierce +7 more
TL;DR: M mammalian cilia is revealed to be several times more complex than the cilia of unicellular organisms and open novel avenues for studies of how cilia are built and maintained and how these processes are disrupted in human disease.
Journal ArticleDOI
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto,Toby W. Hurd,Rannar Airik,Moumita Chaki,Weibin Zhou,Corinne Stoetzel,Suresh B. Patil,Shawn Levy,Amiya K. Ghosh,Carlos Murga-Zamalloa,Jeroen van Reeuwijk,Stef J.F. Letteboer,Liyun Sang,Rachel H. Giles,Qin Liu,Karlien L.M. Coene,Alejandro Estrada-Cuzcano,Rob W.J. Collin,Heather M. McLaughlin,Susanne Held,Jennifer M. Kasanuki,Gokul Ramaswami,Jinny Conte,Irma Lopez,Joseph Washburn,James W. MacDonald,Jinghua Hu,Yukiko M. Yamashita,Eamonn R. Maher,Lisa M. Guay-Woodford,Hartmut P. H. Neumann,Nicholas Obermüller,Robert K. Koenekoop,Carsten Bergmann,Xiaoshu Bei,Richard A. Lewis,Nicholas Katsanis,Vanda S. Lopes,David S. Williams,Robert H. Lyons,Chi V. Dang,Daniela A Brito,Mónica Bettencourt Dias,Xinmin Zhang,James D. Cavalcoli,Gudrun Nürnberg,Peter Nürnberg,Eric A. Pierce,Peter K. Jackson,Corinne Antignac,Sophie Saunier,Ronald Roepman,Hélène Dollfus,Hemant Khanna,Friedhelm Hildebrandt +54 more
TL;DR: This work identifies loss of SDCCAG8 function as a cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders.
Journal ArticleDOI
sFRP2 in the aged microenvironment drives melanoma metastasis and therapy resistance
Amanpreet Kaur,Amanpreet Kaur,Marie R. Webster,Katie Marchbank,Reeti Behera,Abibatou Ndoye,Curtis H. Kugel,Vanessa Dang,Jessica Appleton,Michael P. O'Connell,Phil F. Cheng,Alexander Valiga,Rachel Morissette,Nazli B. McDonnell,Luigi Ferrucci,Andrew V. Kossenkov,Katrina Meeth,Hsin Yao Tang,Xiangfan Yin,William H. Wood,Elin Lehrmann,Kevin G. Becker,Keith T. Flaherty,Dennie T. Frederick,Jennifer A. Wargo,Zachary A. Cooper,Michael T. Tetzlaff,Courtney Hudgens,Katherine M. Aird,Rugang Zhang,Xiaowei Xu,Qin Liu,Edmund K. Bartlett,Giorgos C. Karakousis,Zeynep Eroglu,Roger S. Lo,Matthew Chan,Alexander M. Menzies,Georgina V. Long,Douglas B. Johnson,Jeffrey A. Sosman,Bastian Schilling,Bastian Schilling,Dirk Schadendorf,Dirk Schadendorf,David W. Speicher,Marcus Bosenberg,Antoni Ribas,Ashani T. Weeraratna +48 more
TL;DR: It is found that aged fibroblasts secrete a Wnt antagonist, sFRP2, which activates a multi-step signalling cascade in melanoma cells that results in a decrease in β-catenin and microphthalmia-associated transcription factor, and ultimately the loss of a key redox effector, APE1.
Journal ArticleDOI
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Mark Consugar,Daniel Navarro-Gomez,Emily Place,Kinga M. Bujakowska,Maria E. Sousa,Zoe Fonseca-Kelly,Daniel G. Taub,Maria Janessian,Dan Yi Wang,Elizabeth D. Au,Katherine B. Sims,David A. Sweetser,Anne B. Fulton,Qin Liu,Janey L. Wiggs,Xiaowu Gai,Eric A. Pierce +16 more
TL;DR: Based on quantified performance metrics, the data suggest that selective targeted enrichment is preferable to whole-exome sequencing for genetic diagnostic testing of patients with inherited eye disorders.