Results 51 to 60 of about 660,576 (241)

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report

Molecular Genetics & Genomic Medicine
Background Synonymous variants are non‐pathogenic due to non‐substitution of amino acids. However, synonymous exonic terminal nucleotide substitutions may affect splicing.
Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Minyue Dong   +8 more
doaj   +1 more source

A synonymous mutation and insertion induced frame shift mutation in PAL gene of F. tataricum.

, 2016
A synonymous mutation and insertion induced frame shift mutation in PAL gene of F. tataricum.
Alessandro Antonini (3175731), Sukhwinder Singh (462185), Andrea Brunori (3175734), Antonella Del Fiore (3175749), Ombretta Presenti (3175746), Patrizia De Rossi (3175725), Patrizia Galeffi (2146396), Karthikeyan Thiyagarajan (3175728), Silvia Procacci (3175743), Valentina Tolaini (3175737), Chiara Nobili (3175740), Fabio Vitali (804033), Cristina Cantale (3161220), Prashant Vikram (411174)   +13 more
core   +1 more source

Genomic Selective Constraints in Murid Noncoding DNA [PDF]

, 2006
Recent work has suggested that there are many more selectively constrained, functional noncoding than coding sites in mammalian genomes. However, little is known about how selective constraint varies amongst different classes of noncoding DNA.
Peter D Keightley, Daniel J Gaffney, Gaffney Daniel J, Keightley, Peter, Keightley Peter D, Gaffney, Daniel   +5 more
core   +2 more sources

Herbicide Metabolic Resistance in Poaceae Plants via the GA‐GID1/DELLA‐DOF2‐P450s Module

Advanced Science, EarlyView.
Plant hormone signaling modulates herbicide resistance in Echinochloa crus‐galli. The GA–DELLA–DOF2 cascade directly activates P450 detoxification genes in two Poaceae species, uncovering a core mechanism of metabolic herbicide resistance. ABSTRACT Barnyard grass (Echinochloa crus‐galli) is one of the world's most important weeds, and the evolution of ...
Junzhi Wang, Jiale Qi, Lin Wei, Qin Yu, Zhongyuan Liu, Lianyang Bai, Lang Pan   +6 more
wiley   +1 more source

Diversity of equine major histocompatiblity complex class II DRA locus in Posavina and Croatian Coldblood horse: a new polymorphism detected

Italian Journal of Animal Science, 2010
Domestic equidae display polymorphism within ELA-DRA locus which is not characteristic for other species. We characterised sequence polymorphism present at ELADRA locus exon 2 and estimated allele frequencies in two autochthonous breeds, Posavina and ...
Ino Curik, Kresimir Salajpal, Haidi Arbanasic, Ana Galov   +3 more
doaj   +1 more source

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

, 2013
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683-691]. However, synonymous mutations are rarely investigated in the cancer genomics field.
Lin, J.C., Morken, M.A., Jha, S., Davies, M.A., Jha, Sujata, Davies, Michael A, Young, Alice, Prickett, Todd D, Thomas, Pam, Samuels, Yardena, Robinson, W., Komar, Anton A, Riebow, Nancy, Kimchi-Sarfaty, Chava, Robinson, S., Robinson, William, Han, Joel, Stitzel, M.L., Montemayor, Casandra, Mullikin, James, Chen, Guo, Lin, Jimmy C, Thomas, James, Schandler, Karen, Morken, Mario A, Vemulapalli, Meg, Blakesley, Robert, Gotea, V., Collins, Francis S, Sison, Christina, Carter, Hannah, Maduro, Quino, Gregory, Michael, Davis, S., Gershenwald, Jeffrey E, Maskeri, Baishali, Teer, J.K., Simhadri, V.L., Karchin, Rachel, Karchin, R., Samuels, Y., Parmigiani, Giovanni, Bouffard, Gerry, Carter, H., Katagiri, Nobuko, Collins, F.S., Benjamin, Betty, Teer, Jamie K, Hayward, Nicholas K, Johnson, Taccara, Lovett, Sean, Dutton-Regester, K., Katagiri, N., Wei, Xiaomu, Schmidt, Brian, Elnitski, Laura L, Parker, S.C.J., Gupta, Jyoti, Prickett, T.D., Kimchi-Sarfaty, C., Bhanot, U.K., Park, Morgan, Margulies, E.H., Davis, Sean, Simhadri, Vijaya L, McDowell, Jenny, Hayward, N.K., Robinson, Steven, Gershenwald, J.E., Ho, Shi-ling, Chen, G., Guan, Xiaobin, Masiello, Cathy, Gartner, J.J., Parker, Stephen CJ, Gartner, Jared J, Dekhtyar, Mila, Hargrove, April, Komar, A.A., Margulies, Elliott H, Stitzel, Michael L, Stantripop, Mal, Becker, Jesse, Elnitski, L.L., Legaspi, Richelle, Gotea, Valer, Wei, X., Bhanot, Umesh K, Parmigiani, G., Dutton-Regester, Ken, Brooks, Shelise, Coleman, Holly, Rosenberg, Steven A, Rosenberg, S.A.   +93 more
core   +1 more source

Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen, Yangyi Wang, Tingting Li, Changqing Guo, Zhe Xie, Zhixian Zhang, Xinghua Han, Wei Wang, Jian Wang, Xiaopeng Ma, Yuanzeng Min   +10 more
wiley   +1 more source

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. [PDF]

PLoS Genetics, 2014
In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription.
Ramon Y Birnbaum, Rupali P Patwardhan, Mee J Kim, Gregory M Findlay, Beth Martin, Jingjing Zhao, Robert J A Bell, Robin P Smith, Angel A Ku, Jay Shendure, Nadav Ahituv   +10 more
doaj   +1 more source

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

, 2016
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683–691]. However, synonymous mutations are rarely investigated in the cancer genomics field.
Jha, Sujata, Young, Alice, Thomas, Pam, Samuels, Yardena, Riebow, Nancy, Kimchi-Sarfaty, Chava, Robinson, William, Han, Joel, Montemayor, Casandra, Mullikin, James, Chen, Guo, Collins, Francis S., Thomas, James, Prickett, Todd D., Schandler, Karen, Vemulapalli, Meg, Blakesley, Robert, Bhanot, Umesh K., Sison, Christina, Carter, Hannah, Margulies, Elliott H., Maduro, Quino, Gregory, Michael, Davies, Michael A., Maskeri, Baishali, Gartner, Jared J., Rosenberg, Steven A., Morken, Mario A., Karchin, Rachel, Parmigiani, Giovanni, Dutton-Regester, Kenneth Adam, Bouffard, Gerry, Katagiri, Nobuko, Benjamin, Betty, Johnson, Taccara, Komar, Anton A., Lovett, Sean, Lin, Jimmy C., Wei, Xiaomu, Schmidt, Brian, Gupta, Jyoti, Park, Morgan, Davis, Sean, McDowell, Jenny, Robinson, Steven, Ho, Shi-ling, Stitzel, Michael L., Simhadri, Vijaya L., Guan, Xiaobin, Masiello, Cathy, Teer, Jamie K., Dekhtyar, Mila, Hargrove, April, Gershenwald, Jeffrey E., Stantripop, Mal, Becker, Jesse, Elnitski, Laura L., Legaspi, Richelle, Gotea, Valer, Hayward, Nicholas K., Parker, Stephen C. J., Brooks, Shelise, Coleman, Holly   +62 more
core   +1 more source