Results 91 to 100 of about 795,608 (343)

Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II

Frontiers in Audiology and Otology
IntroductionWaardenburg syndrome (WS) is a genetic disorder characterized by hearing loss, hypopigmentation, and distinct facial features. Despite > 60% molecular diagnosis rate for WS patients, pathogenic variants within coding regions are ...
Yu Huang, Yu Huang, Jia Geng, Jia Geng, Yang Long, Wenyu Xiong, Wenyu Xiong, Lu Kang, Lu Kang, Meilin Chen, Meilin Chen, Ting Tang, Ting Tang, Mingjun Zhong, Mingjun Zhong, Fengxiao Bu, Fengxiao Bu, Yu Lu, Yu Lu, Jing Cheng, Jing Cheng, Huijun Yuan, Huijun Yuan   +22 more
doaj   +1 more source

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

Association Between Promoter Polymorphisms in CD46 and CD59 in Kidney Donors and Transplant Outcome

Frontiers in Immunology, 2018
Complement regulating proteins, including CD46, CD55, and CD59, protect cells against self-damage. Because of their expression on the donor endothelium, they are hypothesized to be involved in accommodation.
Laura A. Michielsen, Arjan D. van Zuilen, Tineke Kardol-Hoefnagel, Marianne C. Verhaar, Henny G. Otten   +4 more
doaj   +1 more source

Regulation of transcription by the Arabidopsis UVR8 photoreceptor involves a specific histone modification [PDF]

, 2016
The photoreceptor UV RESISTANCE LOCUS 8 (UVR8) specifically mediates photomorphogenic responses to UV-B wavelengths. UVR8 acts by regulating transcription of a set of genes, but the underlying mechanisms are unknown. Previous research indicated that UVR8
Herzyk, Pawel, Jenkins, Gareth I., Velanis, Christos N.   +2 more
core   +1 more source

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations

EMBO Molecular Medicine, 2016
Cancer is a disease of the genome caused by oncogene activation and tumor suppressor gene inhibition. Deep sequencing studies including large consortia such as TCGA and ICGC identified numerous tumor‐specific mutations not only in protein‐coding ...
S. Diederichs, Lorenz Bartsch, J. Berkmann, Karin Fröse, Jana Heitmann, Caroline Hoppe, Deetje Iggena, Danny Jazmati, Philipp Karschnia, Miriam Linsenmeier, Thomas Maulhardt, Lino Möhrmann, Johannes Morstein, Stella V. Paffenholz, Paula Röpenack, Timo Rückert, Ludger Sandig, Maximilian Schell, A. Steinmann, Gjendine Voss, J. Wasmuth, M. Weinberger, R. Wullenkord   +22 more
semanticscholar   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

The interdependence of mammary-specific super-enhancers and their native promoters facilitates gene activation during pregnancy

Experimental and Molecular Medicine, 2020
Gene regulation: linking enhancers to specific promoters Super-enhancers are regions of DNA that highly activate the expression of specific genes. Research led by H.K.L. and L.H.
Xianke Zeng, Hye Kyung Lee, Chaochen Wang, Precious Achikeh, Chengyu Liu, Lothar Hennighausen   +5 more
doaj   +1 more source

Genetic determinants of co-accessible chromatin regions in activated T cells across humans. [PDF]

, 2018
Over 90% of genetic variants associated with complex human traits map to non-coding regions, but little is understood about how they modulate gene regulation in health and disease.
A Barrie, A Battle, A Franke, AA Shabalin, AM Klein, AR Quinlan, Atsede Siba, Aviv Regev, Aviva P. Aiden, B Li, BE Stranger, C Hou, Christine S. Cheng, Christophe Benoist, Chun J. Ye, CJ Ye, CK Stroud, D Hnisz, D Lee, D Sakata, DE Speiser, Dmytro Lituiev, E Elinav, E Splinter, EM Schmidt, Erez Lieberman Aiden, EZ Macosko, G Jun, G McVicker, H Kilpinen, H Li, H Li, HK Finucane, HM Kang, Howard Y. Chang, Ido Machol, Ivo Wortman, J Yang, JD Buenrostro, JD Buenrostro, JD Storey, JE Phillips, JF Degner, JN Hirschhorn, JS Delisle, K Enjyoji, Kendrick L. Hougen, KK Farh, L Chen, L Plesner, M Feuerer, M Ghandi, M Kasowski, M Kronenberg, M Kurachi, M. Grace Gordon, Marcin Tabaka, MB Gerstein, Meena Subramaniam, MI Love, MI McCarthy, Michael A. Beer, MN Lee, MT Maurano, Muhammad Shamim, MY Donath, N Kumasaka, NC Durand, Neva C. Durand, NP Restifo, P Cauchy, P Li, PC Hollenhorst, Philip L. De Jager, PM Visscher, PS Ohashi, R Satija, Rachel E. Gate, RE Thurman, RM Samstein, Roadmap Epigenomics Consortium,, S Deaglio, S Heinz, S Neph, SM Waszak, SS Rao, Su-Chen Huang, T Lappalainen, T Raj, The ENCODE Project Consortium., Ting Feng, TL Murphy, UM Marigorta, WA Whyte, WJ Astle, X Chen, X Sun, Y Belkaid, Y Zhang, YY Fan   +99 more
core   +2 more sources

Compilation and analysis of Escherichia coli promoter DNA sequences.

Nucleic Acids Research, 1983
The DNA sequence of 168 promoter regions (-50 to +10) for Escherichia coli RNA polymerase were compiled. The complete listing was divided into two groups depending upon whether or not the promoter had been defined by genetic (promoter mutations) or ...
D. K. Hawley, W. R. McClure
semanticscholar   +1 more source

Genetic Variation in the Promoter Region of Chitinase 3-Like 1 Is Associated with Atopy

American Journal of Respiratory and Critical Care Medicine, 2009
Atopy or atopic syndrome is an allergic hypersensitivity subject to hereditary influences. Aberrant expression of chitinase 3-like 1 (CHI3L1), also known as YKL-40 or HC gp-39, is involved in the pathogenesis of inflammatory and allergic diseases.The genetic contribution of CHI3L1 gene to atopic susceptibility was investigated using an integrated ...
Sung Hee Lee, Chun Geun Lee, Jack A. Elias, Kyung Won Kim, So Won Kim, Min Goo Lee, Kyu-Earn Kim, Kyung Hwan Kim, Ji Hyun Lee, Myung Hyun Sohn   +9 more
openaire   +4 more sources