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Competing analytical strategies of combining associated SNPs for estimating genetic risks

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

In genomewide association study (GWAS) of a complex phenotype, a large number of variants, many with small effect sizes, are found to contribute to th......

JIF:0.994

Missing apolipoprotein E e4 allele associated with nonamnestic Alzheimer's disease in a Tunisian population

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

In this study, we investigate the impact of apolipoprotein E epsilon 4 (APOE e4) as a major risk factor of Alzheimer's disease (AD), based on the clin......

JIF:0.994

Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder

期刊: JOURNAL OF GENETICS, 2022; 102 (1)

Arginase deficiency is an autosomal recessive urea cycle disorder caused by pathogenic variants in the ARG1 gene. The clinical features of the disease......

JIF:0.994

Molecular mapping of CLCuD resistance introgressed from synthetic cotton polyploid in upland cotton

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

Cotton leaf curl disease (CLCuD), caused by a geminivirus complex, is the most serious disease of upland cotton in northwest India and Pakistan. It re......

JIF:0.994

Functional analysis of HADH c.99C > G shows that the variant causes the proliferation of pancreatic islets and leu-sensitive hyperinsulinaemia

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

A novel missense variant (NM_005327.7: c.99C>G, p.Ile33Met) was discovered in 3-hydroxyacyl-CoA dehydrogenase (HADH), which is involved in congenit......

JIF:0.994

CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis

期刊: JOURNAL OF GENETICS, 2022; 102 (1)

CRISPR-Cas9-based F0 knockout (KO) approach permits relatively simple and rapid generation of homozygous KOs and allows quick investigation of gene fu......

JIF:0.994

MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

Pathogenic variants in MCM2 could result in mild to severe sensorineural hearing loss in the affected individuals (deafness, autosomal dominant 70; DF......

JIF:0.994

CircHIPK3 promotes proliferation and metastasis of villous trophoblasts through miR-30a-3p/Wnt2 axis

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

The aim of this paper was to explore the role and mechanism of circHIPK3 in unexplained recurrent spontaneous abortion (URSA). The expression of circH......

JIF:0.994

LncRNA MIR497HG inhibits colorectal cancer progression by the miR-3918/ACTG2 axis

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

The roles of long non-coding RNAs (lncRNAs) have been discussed and analysed in previous studies. The messenger RNAs (mRNAs) are frequently reported t......

JIF:0.994

Genetic structure, population diversity and ancestry of Nicobari fowl based on mtDNA complete D-loop sequences

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

Nicobari fowl constitute an endemic poultry germplasm of Andaman and Nicobar Islands, India. Genetic diversity, population structure and ancestry of N......

JIF:0.994

In silico analysis of carotenoid biosynthesis pathway in cassava (Manihot esculenta Crantz)

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

The apocarotenoids play a vital role in plant growth and development process, especially strigolactones, which can induce rooting and help in the inte......

JIF:0.994

Cytogenetic analysis of 2959 couples with spontaneous abortion and detailed analysis of rare karyotypes

期刊: JOURNAL OF GENETICS, 2022; 101 (1)

Chromosome abnormality is one of the important causes of spontaneous abortion. However, due to regional and ethnic differences, the reported rates of ......

JIF:0.994

PTPRJ is downregulated in cervical squamous cell carcinoma

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

Squamous cell carcinoma of the uterine cervix (CSCC) is one of the leading causes of death in Indian women. Protein tyrosine phosphatase receptor (PTP......

JIF:0.994

Consequence of cyclic pollen selection for heat tolerance on the performance of different generations in maize (Zea mays L.)

期刊: JOURNAL OF GENETICS, 2022; 101 (2)

The reproductive stage in many crops, including maize, is very sensitive to heat stress and the genetic overlap between gametophytic and sporophytic p......

JIF:0.994

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