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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

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

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

Complete mitochondrial genome and phylogenetic analysis of eight sika deer subspecies in northeast Asia

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

Sika deer (Cervus nippon) are large ruminants distributed throughout northeastern Asia. The phylogenetic relationship of the sika deer subspecies rema......

JIF:0.994

Effects of CYP24A1 polymorphisms on premature ejaculation: a case-control study

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

Premature ejaculation (PE) is a common male sexual dysfunction disorder, and is considered to have the genetic predisposition. However, the internal r......

JIF:0.994

Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study

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

The objective of the study was to perform the prenatal diagnosis of two foetuses with 22q11.2 duplication for 2.5 Mb after noninvasive prenatal testin......

JIF:0.994

LncRNA TTN-AS1 exacerbates extracellular matrix accumulation via miR-493-3p/FOXP2 axis in diabetic nephropathy

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

Diabetic nephropathy (DN), a common cause of chronic renal failure and end-stage renal disease, leads to a high mortality. However, the role of TTN-AS......

JIF:0.994

Genome survey and development of 13 SSR markers in Eucalyptus cloeziana by NGS

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

Eucalyptus cloeziana is a valuable timber tree species for its high durability and excellent sawmilling qualities. However, there is lack of complete ......

JIF:0.994

The complete chloroplast genome sequence of the monotypic and enigmatic genus Cavea (tribe Gymnarrheneae) and a comparison with other species in Asteraceae

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

The family Asteraceae includes about 10% of angiosperm species. The tribe Gymnarrheneae is an excellent example of a nonmissing link tribe. It contain......

JIF:0.994

Genomewide identification and analysis of the OSCA gene family in barley (Hordeum vulgare L.)

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

The hyperosmolality-gated calcium-permeable channels (OSCA) are considered to be osmotic sensors that play an important role in the early stages of hy......

JIF:0.994

An adaptive combination method for Cauchy variable based on optimal threshold

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

In sequence study, set-based analysis has been developed as a popular tool for analysing the association of a group rare variant with disease. However......

JIF:0.994

Arabis paniculata ApHIPP3 increases Cd tolerance by interacting with ApCHC1

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

Cadmium (Cd) is a common hazardous element that shows potential chronic toxicity in plants and animals. Arabis paniculata functioning as a hyperaccumu......

JIF:0.994

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome

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

Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual di......

JIF:0.994

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