Abstract：
:Hereditary hearing loss (HHL) is a neurosensory disorder that affects every 1/500 newborns worldwide and nearly 1/3 people over the age of 65. Congenital deafness is inherited as monogenetic or polygenic disorder. The delicacy, tissue heterogeneity, deep location of the inner ear down the brainstem, and minute quantity of cells present in cochlea are the major challenges for current therapeutic approaches to cure deafness. Targeted genome editing is considered a suitable approach to treat HHL since it can target defective molecular components of auditory transduction to restore normal cochlear function. With the advent of CRISPR/Cas9 technique, targeted genome editing and biomedical research have been revolutionized. The robustness and simplicity of this technology lie in its design and delivery methods. It can directly deliver a complex of Cas9 endonuclease and single guide RNA (sgRNA) into zygote using either vector-mediated stable transfection or transient delivery of ribonucleoproteins complexes. This strategy induces DNA double strand breaks (DSBs) at target site followed by endogenous DNA repairing mechanisms of the cell. CRISPR/Cas9 has been successfully used in model animals to edit hearing genes like calcium and integrin-binding protein 2, myosin VIIA, Xin-actin binding repeat containing 2, leucine-zipper and sterile-alpha motif kinase Zak, epiphycan, transmembrane channel-like protein 1, and cadherin 23. This review discusses the utility of lipid-mediated transient delivery of Cas9/sgRNA complexes, an efficient way to restore hearing in humans, suffering from HHL. Notwithstanding, challenges like PAM requirement, HDR efficiency, off-target activity, and optimized delivery systems need to be addressed.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Farooq R,Hussain K,Tariq M,Farooq A,Mustafa Mdoi
10.1007/s13353-019-00535-6subject
Has Abstractpub_date
2020-02-01 00:00:00pages
51-65issue
1eissn
1234-1983issn
2190-3883pii
10.1007/s13353-019-00535-6journal_volume
61pub_type
杂志文章,评审abstract：:Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0394-5
更新日期：2017-08-01 00:00:00
abstract：:Pigs as a source of grafts for xenotransplantation can help to overcome the rapidly growing shortage of human donors. However, in the case of pig-to-human transplantation, the antibody-xenoantigen complexes lead to the complement activation and immediate hyperacute rejection. Methods eliminating hyperacute rejection (...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-014-0261-6
更新日期：2015-05-01 00:00:00
abstract：:RNA/DNA hybrid duplexes regularly occur in nature, for example in transcriptional R loops. Their susceptibility to modification by DNA-specific or RNA-specific enzymes is, thus, a biologically relevant question, which, in addition, has possible biotechnological implications. In this study, we investigated the activity...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-015-0279-4
更新日期：2015-11-01 00:00:00
abstract：:The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70 percent of patients with a highly probable clinical diagnosis. In this study, we aimed to...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208882
更新日期：2010-01-01 00:00:00
abstract：:Progress in mammalian cloning started from cloning embryos (of mice, rats, rabbits, sheep, goats, pigs, cattle and rhesus monkeys) and culminated in obtaining clones of sheep, cattle, pigs and mice from adult somatic cells. Knowing the relationship between the cell cycles of the recipient and the donor of cell nucleus...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:The ErbB signalling network plays a crucial role in the growth and progression of several cancers, including colorectal cancer (CRC), and includes potentially drug-targetable genes. Oncogenic activation of the ErbB pathway by mutations and focal amplifications have emerged recently as an important predictive marker of...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-014-0253-6
更新日期：2015-05-01 00:00:00
abstract：:Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a g...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208865
更新日期：2010-01-01 00:00:00
abstract：:Chromosome pairing in tetraploid Secalotriticum was analysed. In the studied plants wheat chromosomes in PMCs during metaphase I showed a higher degree of pairing, in comparison to the rye genome. This is reflected in a very low frequency of univalents and a higher frequency of ring bivalents. The occurrence of wheat ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：:Relationship coefficients are particularly useful to improve genetic management of endangered populations. These coefficients are traditionally based on pedigree data, but in case of incomplete or inexistent pedigrees they are replaced by coefficients calculated from molecular data. The main objective of this study wa...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195664
更新日期：2009-01-01 00:00:00
abstract：:Investigations on the impact of chemicals on the environment and human health have led to the development of an exposome concept. The exposome refers to the totality of exposures received by a person during life, including exposures to life-style factors, from the prenatal period to death. The exposure to genotoxic ch...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-016-0380-3
更新日期：2017-08-01 00:00:00
abstract：:Based on segregation distortion of simple sequence repeat (SSR) molecular markers, we detected a significant quantitative trait loci (QTL) for pre-harvest sprouting (PHS) tolerance on the short arm of chromosome 2D (2DS) in the extremely susceptible population of F2 progeny generated from the cross of PHS tolerant syn...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195631
更新日期：2008-01-01 00:00:00
abstract：:Porcine pregnancy-associated glycoprotein genes (pPAG) are known as a multigene family, in which five members have been cloned and sequences of their cDNAs identified. Porcine PAG1 and pPAG3 genes, belonging to the pPAG1-like subfamily, both encode enzymatically inactive precursors. In contrast, cDNAs of pPAG2, pPAG4 ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:Winter wheat cultivars Aquileja (AQ) and Xian Nong 4(XN) were previously reported to possess durable, quantitative resistance to stripe rust disease. In the present study, AQ, XN and a susceptible wheat cultivar were reciprocally crossed in all 6 combinations. Parents, F1, F2, F3, BCP1 and BCP2 were used to determine ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194656
更新日期：2007-01-01 00:00:00
abstract：:The aim of this study was to evaluate phenotypic variation of R0 androgenic plants obtained from four seed sources and donor plants by anther culture. Several morphological traits (leaf size, petiole length, leaf division, cortex colour) and the range of diversity were evaluated. There was large variation in all trait...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studi...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-018-0472-3
更新日期：2019-02-01 00:00:00
abstract：:Mutagenicity refers to the induction of permanent changes in the DNA sequence of an organism, which may result in a heritable change in the characteristics of living systems. Antimutagenic agents are able to counteract the effects of mutagens. This group of agents includes both natural and synthetic compounds. Based o...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-014-0198-9
更新日期：2014-05-01 00:00:00
abstract：:The mode of replication and organisation of bacterial genomes impose asymmetry on their nucleotide composition. The asymmetry is seen in coding and non-coding sequences and is reflected in the amino acid composition of proteins. The mechanisms generating asymmetry include: unequal mutation rates connected with replica...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:Myogenic factor 5 (myf-5) is the product of the MYF5 gene, belonging to the MyoD family. This transcription factor participates in the control of myogenesis. We identified 3 new mutations in the promoter region of the gene: A65C, C580T and C613T. The aim of this study was to evaluate the influence of the A65C transver...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194600
更新日期：2006-01-01 00:00:00
abstract：:The aim of these studies was to characterize nucleotide substitutions leading to the phenotype of brassinosteroid-insensitive, semi-dwarf barley mutant 093AR. Two substitutions in the sequence of barley HvBRI1 gene, encoding leucine-rich repeats receptor kinase (LRR-RK), which participates in brassinosteroid (BR) sign...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0031-7
更新日期：2011-08-01 00:00:00
abstract：:Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models w...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0411-8
更新日期：2017-11-01 00:00:00
abstract：:Philomycus bilineatus is a highly common gastropod mollusk pest in China and is also utilized to treat infectious diseases. However, no genomic resources are available for this non-model species. In the present study, the transcriptomic analysis of P. bilineatus was completed. After sequencing using the next generatio...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-020-00566-4
更新日期：2020-09-01 00:00:00
abstract：:Oil palm (Elaeis guineensis Jacq.) is an outbreeding perennial tree crop with long breeding cycles, typically 12 years. Molecular marker technologies can greatly improve the breeding efficiency of oil palm. This study reports the first use of the DArTseq platform to genotype two closely related self-pollinated oil pal...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0420-7
更新日期：2018-02-01 00:00:00
abstract：:The quality of wheat depends on a large complex of genes and environmental factors. The objective of this study was to identify quantitative trait loci controlling technological quality traits and their stability across environments, and to assess the impact of interaction between alleles at loci Glu-1 and Glu-3 on gr...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-016-0362-5
更新日期：2017-02-01 00:00:00
abstract：:Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more t...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195642
更新日期：2008-01-01 00:00:00
abstract：:Arylamine N-acetyltransferase (NAT) genes were targeted for inhibition using short hairpin RNA (shRNA) using two different RNA polymerase III promoters. Constructs were developed for NAT1 and NAT2, the endogenous mouse genes, and for human NAT1. There were fetal and neonatal deaths with these constructs, perhaps due i...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
abstract：:We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195240
更新日期：2007-01-01 00:00:00
abstract：:Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-lengt...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0390-9
更新日期：2017-08-01 00:00:00
abstract：:This study aimed to determine the frequency of associated urological abnormalities in children with unilateral renal agenesis (RA) or multicystic dysplastic kidney (MCDK). In total, 38 children (10 girls, 28 boys) were studied: 21 with RA and 17 with MCDK. In 14 children (37%) anomalies of the urinary tract were suspe...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194618
更新日期：2006-01-01 00:00:00
abstract：:We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-015-0333-2
更新日期：2016-08-01 00:00:00
abstract：:SDS-PAGE analysis of seed globulins covered 200 accessions of the following Lens taxa: L. culinaris subsp. culinaris, L. culinaris subsp. orientalis, L. odemensis, L. ervoides, L. nigricans, L. lamottei and L. tomentosus. The number of polypeptide bands detected in particular taxa varied from 22 in L. lamottei to 35 i...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
