defective gene
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scholarly journals Lipoprotein(a) in hereditary hypercholesterolemia. Influence of the genetic cause, defective gene and type of mutation

2021 ◽  
Author(s):  
Victoria Marco-Benedí ◽  
Ana Cenarro ◽  
Martín Laclaustra ◽  
Asier Larrea-Sebal ◽  
Estíbaliz Jarauta ◽  
...  
Keyword(s):  
Lipoprotein A ◽  
Defective Gene

A different type of genetic therapy: correcting a defective gene using antisense oligonucleotide treatment in CEP290 p.Cys998X LCA

2021 ◽  
Vol 25 (4) ◽  
pp. e5
Author(s):  
Arlene V. Drack ◽  
Stephen R. Russell ◽  
Artur V. Cideciyan ◽  
Samuel G. Jacobson ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Antisense Oligonucleotide ◽  
Genetic Therapy ◽  
Defective Gene

CRISPR-Cas9 based genome editing for defective gene correction in humans and other mammals

2021 ◽  
Author(s):  
Janardhan Keshav Karapurkar ◽  
Ainsley Mike Antao ◽  
Kye-Seong Kim ◽  
Suresh Ramakrishna
Keyword(s):  
Genome Editing ◽  
Gene Correction ◽  
Defective Gene

scholarly journals Pancytopenia In Infancy – A Reflection Of Defective Gene (Mysm1 Deficiency: An Orphan Entity)

2019 ◽  
Vol 4 (2) ◽  
pp. S43
Author(s):  
Jain Amit ◽  
H.N. Ramya ◽  
Kini Pranoti ◽  
Patil Rajesh ◽  
Bhagyeshree ◽  
...  
Keyword(s):  
Defective Gene

Surgical oncology

2018 ◽  
Author(s):  
Jim Cassidy ◽  
Donald Bissett ◽  
Roy A. J. Spence OBE ◽  
Miranda Payne ◽  
Gareth Morris-Stiff
Keyword(s):  
Therapeutic Intervention ◽  
New Technologies ◽  
Surgical Oncology ◽  
Gene Defect ◽  
New Therapies ◽  
Defective Gene ◽  
Genetic Makeup

Cancer is a disease of the genes. In the last two decades new technologies have allowed us to interrogate the genome more efficiently and faster. This has led to new therapies and improved understanding of cancers. It is clear the few cancers are caused by just one gene defect and in these rare cases the defective gene or its product is a target for therapeutic intervention. The bigger challenge now is to use this paradigm against multi-genic cancers which are far more common and more complex in their genetic makeup.

scholarly journals Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Alessia Indrieri ◽  
Claudia Grimaldi ◽  
Silvia Zucchelli ◽  
Roberta Tammaro ◽  
Stefano Gustincich ◽  
...  
Keyword(s):  
Gene Expression ◽  
Defective Gene ◽  
Non Coding Rnas

Accelerated Alcoholic Fermentation Caused by Defective Gene Expression Related to Glucose Derepression inSaccharomyces cerevisiae

2013 ◽  
Vol 77 (11) ◽  
pp. 2255-2262 ◽  
Author(s):  
Daisuke WATANABE ◽  
Naoya HASHIMOTO ◽  
Megumi MIZUNO ◽  
Yan ZHOU ◽  
Takeshi AKAO ◽  
...  
Keyword(s):  
Gene Expression ◽  
Alcoholic Fermentation ◽  
Defective Gene

Defective Gene Detective

Science ◽  
2012 ◽  
Vol 335 (6070) ◽  
pp. 773-773
Keyword(s):  
Defective Gene

Non-Invasive Vessel Examinations in Carriers of LDL-Receptor Defective Gene Versus Non-Carriers with Newly Detected Asymptomatic Severe Hypercholesterolemia

Folia Medica ◽  
2010 ◽  
Vol 52 (4) ◽  
Author(s):  
Lyudmila Vladimirova-Kitova ◽  
Tania Deneva-Koicheva ◽  
Fedya Nikolov ◽  
Varban Ganev
Keyword(s):  
Ldl Receptor ◽  
Non Invasive ◽  
Defective Gene
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