L
Li Li
Researcher at Harvard University
Publications - 11
Citations - 2075
Li Li is an academic researcher from Harvard University. The author has contributed to research in topics: Autosomal dominant polycystic kidney disease & Gene. The author has an hindex of 9, co-authored 11 publications receiving 1931 citations. Previous affiliations of Li Li include Albert Einstein College of Medicine & Albany Medical College.
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Journal ArticleDOI
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
Amy E. Roberts,Toshiyuki Araki,Kenneth D. Swanson,Kate Montgomery,Taryn A. Schiripo,Victoria A. Joshi,Li Li,Yosuf Yassin,Alex M. Tamburino,Benjamin G. Neel,Raju Kucherlapati +10 more
TL;DR: SOS1 mutants are identified as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation.
Journal ArticleDOI
Genomic analysis reveals that Pseudomonas aeruginosa virulence is combinatorial
Daniel G. Lee,Jonathan M. Urbach,Gang Wu,Nicole T. Liberati,Rhonda L. Feinbaum,Sachiko Miyata,Lenard T Diggins,Jianxin He,Maude Saucier,Maude Saucier,Eric Déziel,Eric Déziel,Lisa Friedman,Lisa Friedman,Li Li,George Grills,George Grills,Kate Montgomery,Raju Kucherlapati,Laurence G. Rahme,Frederick M. Ausubel +20 more
TL;DR: It is proposed that virulence in this organism is both multifactorial and combinatorial, the result of a pool of pathogenicity-related genes that interact in various combinations in different genetic backgrounds.
Journal ArticleDOI
Cardiac defects and renal failure in mice with targeted mutations in Pkd2.
Guanqing Wu,Glen S. Markowitz,Li Li,Vivette D. D'Agati,Stephen M. Factor,Lin Geng,S. Tibara,J. Tuchman,Yiqiang Cai,Yiqiang Cai,Jong Hoon Park,J. Van Adelsberg,Harry Hou,Raju Kucherlapati,Winfried Edelmann,Stefan Somlo,Stefan Somlo +16 more
TL;DR: The studies advance the understanding of the function of polycystin-2 in development and the mouse models recapitulate the complex human ADPKD phenotype, providing evidence that kidney and liver cyst formation associated with Pkd2 deficiency occurs by a two-hit mechanism.
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Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease
Guanqing Wu,Xin Tian,Sayoko Nishimura,Glen S. Markowitz,Vivette D. D'Agati,Jong Hoon Park,Lili Yao,Li Li,Lin Geng,Hongyu Zhao,Winfried Edelmann,Stefan Somlo +11 more
TL;DR: The data suggest a modifier role for the 'trans' polycystin gene in cystic kidney disease, and support a contribution from threshold effects to cyst formation and growth.
Journal ArticleDOI
Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.
Guanqing Wu,Tomohito Hayashi,Jong Hoon Park,Mehul Dixit,David Reynolds,Li Li,Yoshiko Maeda,Yiqiang Cai,Miguel Coca-Prados,Stefan Somlo +9 more
TL;DR: In this paper, another member of the PKD2 gene family was identified, which is localized to chromosome 10q25 and is excluded as a candidate gene for autosomal recessive polycystic kidney disease, autosomal dominant polycystin-2 liver disease, and the third form of ADPKD.