PMC Links for Nucleotide (Select 186700611) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 44412152.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 42727803.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating, Carmen Ayuso

Orphanet J Rare Dis. 2014; 9: 190. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0190-9

PMCID:: PMC4272780

Abstract Article PDF–1.7M

Select item 42633714.

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu

PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819

PMCID:: PMC4263371

Abstract Article PDF–7.6M

Select item 3350535.

Complete cDNA sequence of rat phosphoribosylpyrophosphate synthetase subunit I (PRS I).

S Ishijima, M Taira, M Tatibana

Nucleic Acids Res. 1989 Nov 11; 17(21): 8860. doi: 10.1093/nar/17.21.8860

PMCID:: PMC335053

Summary Page Browse PDF–122K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity