Results 41 to 50 of about 45,603 (283)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Simplicity, function, and legibility in an enhanced ambigraphic nucleic acid notation

BioTechniques, 2008
We previously showed that an ambigraphic nucleic acid notation, based on symmetrical lowercase Roman characters, permits users to complement DNA by physically rotating the sequence text 180°. This article describes an enhanced ambigraphic notation, which
David A. Rozak, Anthony J. Rozak
doaj   +1 more source

SEARCHING FOR PALINDROMIC SEQUENCES IN PRIMARY STRUCTURE OF PROTEINS [PDF]

Computational Methods in Science and Technology, 1999
Protein data base SWISSPROT was tested in the search for palindrome sequences in primary structure of polypeptides. The obtained results indicate that palindrome words are present in protein structure and there is a number of them. Half of the length of the longest palindrome was 76 and in accordance with expectations the shorter the length of the ...
Marcin Hoffmann, Jacek Rychlewski
openaire   +2 more sources

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

FEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao, Qiangbing Yang, Christian J.B. Snijders Blok, Mark A. Daniels, Pieter A. Doevendans, Raymond Schiffelers, Joost P.G. Sluijter, Zhiyong Lei   +7 more
wiley   +1 more source

ITGAV and SMAD4 influence the progression and clinical outcome of pancreatic ductal adenocarcinoma

Molecular Oncology, EarlyView.
In SMAD4‐positive pancreatic ductal adenocarcinoma (PDAC), integrin subunit alpha V (ITGAV) activates latent TGF‐β, which binds to the TGF‐β receptor and phosphorylates SMAD2/3. The activated SMAD2/3 forms a complex with SMAD4, and together they translocate to the nucleus, modulating gene expression to promote proliferation, migration, and invasion. In
Daniel K. C. Lee, Keyue Chen, Ryan Loke, Xiang Li, David Liubart, Golam T. Saffi, Jonathan T. S. Chow, Ché M. P. Melo, Lydia To, Leonardo Salmena   +9 more
wiley   +1 more source

Complete genomic DNA sequence of the East Asian spotted fever disease agent Rickettsia japonica. [PDF]

PLoS ONE, 2013
Rickettsia japonica is an obligate intracellular alphaproteobacteria that causes tick-borne Japanese spotted fever, which has spread throughout East Asia. We determined the complete genomic DNA sequence of R.
Minenosuke Matsutani, Motohiko Ogawa, Naohisa Takaoka, Nozomu Hanaoka, Hidehiro Toh, Atsushi Yamashita, Kenshiro Oshima, Hideki Hirakawa, Satoru Kuhara, Harumi Suzuki, Masahira Hattori, Toshio Kishimoto, Shuji Ando, Yoshinao Azuma, Mutsunori Shirai   +14 more
doaj   +1 more source

Characterization of WAC interactions with R2TP and TTT chaperone complexes linking glucose and glutamine availability to mTORC1 activity

FEBS Open Bio, EarlyView.
TTT and R2TP chaperone complexes are required for the assembly and activation of mTORC1. WAC directly interacts with components of TTT, R2TP, and mTORC1, and these interactions are affected by the availability of glucose and glutamine, correlating with changes in mTORC1 activity.
Sofía Cabezudo, Natalia Cuervo, Carmen García‐Martín, Andrés López‐Perrote, Clara Reglero, Adrián Maqueda‐Real, Ana González‐Corpas, Marina Serna, Diego Megías, Alejo Efeyan, Solip Park, Oscar Llorca   +11 more
wiley   +1 more source

Integrase and integration: biochemical activities of HIV-1 integrase

Retrovirology, 2008
Integration of retroviral DNA is an obligatory step of retrovirus replication because proviral DNA is the template for productive infection. Integrase, a retroviral enzyme, catalyses integration.
Deprez Eric, Saïb Ali, Carayon Kevin, Delelis Olivier, Mouscadet Jean-François   +4 more
doaj   +1 more source

Heritable and precise zebrafish genome editing using a CRISPR-Cas system. [PDF]

PLoS ONE, 2013
We have previously reported a simple and customizable CRISPR (clustered regularly interspaced short palindromic repeats) RNA-guided Cas9 nuclease (RGN) system that can be used to efficiently and robustly introduce somatic indel mutations in endogenous ...
Woong Y Hwang, Yanfang Fu, Deepak Reyon, Morgan L Maeder, Prakriti Kaini, Jeffry D Sander, J Keith Joung, Randall T Peterson, Jing-Ruey Joanna Yeh   +8 more
doaj   +1 more source

The cochaperone BAG3 promotes the stabilization of p53 under heat stress conditions

FEBS Open Bio, EarlyView.
Under heat stress, BAG3 translocates to the nucleus and forms a complex with Hsp70 and p53, thereby promoting p53 stabilization and enhancing its transcriptional activity. These findings suggest that BAG3 functions as a cochaperone that supports p53‐mediated stress responses in cooperation with Hsp70.
Ngoc Nguyen Thi Minh, Esther Lee, Soo‐A Kim   +2 more
wiley   +1 more source