Zobrazeno 1 - 10
of 83
pro vyhledávání: '"J Robert Manak"'
Autor:
Dong Liang, Kirk M McHugh, Pat D Brophy, Nader Shaikh, J Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L Schwaderer, David S Hains
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0220617 (2019)
Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR. These loci normally harbor a number of genes whose biologically functional varia
Externí odkaz:
https://doaj.org/article/abe8a36d8bb7487d9ac0f2115dde8d7d
Autor:
J Robert Manak
Publikováno v:
PLoS Genetics, Vol 14, Iss 7, p e1007480 (2018)
Externí odkaz:
https://doaj.org/article/2607e98c1c3e4f228989468f6902c734
Autor:
Hannah E Seberg, Eric Van Otterloo, Stacie K Loftus, Huan Liu, Greg Bonde, Ramakrishna Sompallae, Derek E Gildea, Juan F Santana, J Robert Manak, William J Pavan, Trevor Williams, Robert A Cornell
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006636 (2017)
Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precis
Externí odkaz:
https://doaj.org/article/c76948b2bb1645c085c6ede7503ea9cc
Autor:
Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005022 (2015)
Epilepsy is a common disabling disease with complex, multifactorial genetic and environmental etiology. The small fraction of epilepsies subject to Mendelian inheritance offers key insight into epilepsy disease mechanisms; and pathologies brought on
Externí odkaz:
https://doaj.org/article/c8c9d088c9034e5f95796391fbe65f07
Autor:
Lily Paemka, Vinit B Mahajan, Jessica M Skeie, Levi P Sowers, Salleh N Ehaideb, Pedro Gonzalez-Alegre, Toshikuni Sasaoka, Hirotaka Tao, Asuka Miyagi, Naoto Ueno, Keizo Takao, Tsuyoshi Miyakawa, Shu Wu, Benjamin W Darbro, Polly J Ferguson, Andrew A Pieper, Jeremiah K Britt, John A Wemmie, Danielle S Rudd, Thomas Wassink, Hatem El-Shanti, Heather C Mefford, Gemma L Carvill, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e80737 (2013)
The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segrega
Externí odkaz:
https://doaj.org/article/56d27ee6f5524f0d8f722b7539487b5c
Autor:
Alejandro A Pezzulo, Emma E Hornick, Michael V Rector, Miriam Estin, Anna C Reisetter, Peter J Taft, Stephen C Butcher, A Brent Carter, J Robert Manak, David A Stoltz, Joseph Zabner
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43777 (2012)
Paraoxonases (PON) are a family of proteins (PON1, 2 and 3) with multiple enzymatic activities. PON1 interferes with homoserine lactone-mediated quorum sensing in bacteria and with reactive oxygen species (ROS) in humans and mice. PON1 gene mutations
Externí odkaz:
https://doaj.org/article/cef0308d5eca4bdf8db408f320867777
Autor:
Chung-Yi Nien, Hsiao-Lan Liang, Stephen Butcher, Yujia Sun, Shengbo Fu, Tenzin Gocha, Nikolai Kirov, J Robert Manak, Christine Rushlow
Publikováno v:
PLoS Genetics, Vol 7, Iss 10, p e1002339 (2011)
In past years, much attention has focused on the gene networks that regulate early developmental processes, but less attention has been paid to how multiple networks and processes are temporally coordinated. Recently the discovery of the transcriptio
Externí odkaz:
https://doaj.org/article/fca76eb5d9714f979ab3278f6f518297
Autor:
Robert C Akkers, Simon J van Heeringen, J Robert Manak, Roland D Green, Hendrik G Stunnenberg, Gert Jan C Veenstra
Publikováno v:
PLoS ONE, Vol 5, Iss 1, p e8820 (2010)
Chromatin immunoprecipitation combined with genome tile path microarrays or deep sequencing can be used to study genome-wide epigenetic profiles and the transcription factor binding repertoire. Although well studied in a variety of cell lines, these
Externí odkaz:
https://doaj.org/article/cc5bece222dd4edc98edd4185874fc8a
Autor:
Li Jia, Gilad Landan, Mark Pomerantz, Rami Jaschek, Paula Herman, David Reich, Chunli Yan, Omar Khalid, Phil Kantoff, William Oh, J Robert Manak, Benjamin P Berman, Brian E Henderson, Baruch Frenkel, Christopher A Haiman, Matthew Freedman, Amos Tanay, Gerhard A Coetzee
Publikováno v:
PLoS Genetics, Vol 5, Iss 8, p e1000597 (2009)
Multiple discrete regions at 8q24 were recently shown to contain alleles that predispose to many cancers including prostate, breast, and colon. These regions are far from any annotated gene and their biological activities have been unknown. Here we p
Externí odkaz:
https://doaj.org/article/3036cf999c164d04866aeb3abc4f882d
Autor:
Camilla Kwong, Boris Adryan, Ian Bell, Lisa Meadows, Steven Russell, J Robert Manak, Robert White
Publikováno v:
PLoS Genetics, Vol 4, Iss 9, p e1000178 (2008)
Polycomb-group (PcG) and Trithorax-group proteins together form a maintenance machinery that is responsible for stable heritable states of gene activity. While the best-studied target genes are the Hox genes of the Antennapedia and Bithorax complexes
Externí odkaz:
https://doaj.org/article/f58caf5236584de59f3c84b2c8da0af5