Results 51 to 60 of about 1,677,192 (310)

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

Molecular Genetics & Genomic Medicine, 2021
Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or ...
Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu   +9 more
doaj   +1 more source

Kinetics and durability of transgene expression after intrastriatal injection of AAV9 vectors

Frontiers in Neurology, 2022
Understanding the kinetics and durability of AAV-mediated transgene expression in the brain is essential for conducting basic neuroscience studies as well as for developing gene therapy approaches for CNS diseases.
Bradley S. Hollidge, Hayley B. Carroll, Randolph Qian, Madison L. Fuller, April R. Giles, Andrew C. Mercer, Olivier Danos, Ye Liu, Joseph T. Bruder, Jared B. Smith   +9 more
doaj   +1 more source

Demonstration of the Presence of the "Deleted" MIR122 Gene in HepG2 Cells [PDF]

, 2015
MicroRNA 122 (miR-122) is highly expressed in the liver where it influences diverse biological processes and pathways, including hepatitis C virus replication and metabolism of iron and cholesterol.
Fei, Y, Hamad, IA, Humphries, SE, Kalea, AZ, Palmen, J, Smith, AJ, Talmud, PJ, Walker, AP, Yin, D   +8 more
core   +1 more source

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +1 more source

Isolation and molecular characterization of the FLOWERING LOCUS C gene promoter sequence in radish (Raphanus sativus L.)

Journal of Integrative Agriculture, 2016
Both bolting and flowering times influence taproot and seed production in radish. FLOWERING LOCUS C (FLC) plays a key role in plant flowering by functioning as a repressor.
Yuan-yuan XU, Jing WANG, Shan-shan NIE, Dan-qiong HUANG, Yan WANG, Liang XU, Rong-hua WANG, Xiao-bo LUO, Li-wang LIU   +8 more
doaj   +1 more source

Sustained gene expression in the retina by improved episomal vectors [PDF]

, 2014
Gene and cellular therapies are nowadays part of therapeutic strategies for the treatment of diverse pathologies. The drawbacks associated with gene therapy-low levels of transgene expression, vector loss during mitosis, and gene silencing-need to be ...
Ana V. Oliveira, Conley S.M., Davis A.A., Gabriela A. Silva, Reinisalo M., Rudolf Haase, Sofia M. Calado, Susana Machado   +7 more
core   +1 more source

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Analysis of CcDREB1D promoter region from drought-tolerant and susceptible clones of Coffea canephora by homologous genetic transformation of Coffea arabica [PDF]

, 2014
In several plant species, the DREB genes play a key role in responses to abiotic stress. Since the development of molecular markers is one of the major goals for accelerating breeding programs, a study was done to evaluate the sequence variability of the
Alves, Gabriel Sergio Costa, Andrade, Alan Carvalho, Dechamp, Eveline, Etienne, Hervé, Freire, Luciana Pereira, Marraccini, Pierre, Paiva, L.V., This, Dominique   +7 more
core   +1 more source

Modeling and Simulation of CO2 Absorption into Promoted Aqueous Potassium Carbonate Solution in Industrial Scale Packed Column

Bulletin of Chemical Reaction Engineering & Catalysis, 2015
Carbon dioxide gas is a harmful impurity which is corrosive and it can damage the utilities and the piping system in industries. Chemical absorption is the most economical separation method which is widely applied in chemical industries for CO2 removal ...
Ali Altway, Susianto Susianto, Suprapto Suprapto, Siti Nurkhamidah, Nur Ihda Farihatin Nisa, Firsta Hardiyanto, Hendi Riesta Mulya, Saidah Altway   +7 more
doaj   +1 more source

Allelic variants of a potato HEAT SHOCK COGNATE 70 gene confer improved tuber yield under a wide range of environmental conditions

Food and Energy Security, 2023
Previously, we developed and applied a glasshouse screen for potato tuber yield under heat stress and identified a candidate gene (HSc70) for heat tolerance by genetic analysis of a diploid potato population.
Raymond Campbell, Laurence Ducreux, Graham Cowan, Vanessa Young, Gift Chinoko, Gloria Chitedze, Stanley Kwendani, Margaret Chiipanthenga, Craita E. Bita, Obed Mwenye, Hassan Were, Lesley Torrance, Sanjeev Kumar Sharma, Robert D. Hancock, Glenn J. Bryan, Mark Taylor   +15 more
doaj   +1 more source