Case Report: A Novel Missense Variant in the Gene Associated With Cataracts in a Chinese Family.

The signal-induced proliferation-associated 1-like 3 () gene that encodes a putative Rap GTPase-activating protein (RapGAP) has been associated with congenital cataract and eye development abnormalities. However, our current understanding of the mutation spectrum of associated with eye defects is limited. By using whole-exome sequencing plus Sanger sequencing validation, we identified a novel heterozygous c.

[LUNX mRNA in regional lymph nodes of non-small cell lung cancer patients by RT-PCR and its clinical significance].

Objective: To evaluate the detection of humen-lung-specific X protein (LUNX) gene in micrometastases of patients with non-small cell lung cancer.

Methods: The expression of LUNX gene in tumor tissue, lung and lymph nodes was detected by reverse transcriptase-polymerase chain reaction(RT-PCR) both in 43 non-small-cell lung cancer patients (the experimental group) and 15 lung benign patients (the control group). LUNX mRNA expression in clinic pathology,stage of cancer cell differentiation, clinic stage, age, sex, smoking history, and 4 lung cancer blood markers (CEA,CA125,NSE, and CYFRA211) were evaluated.

Carbonyl stress: malondialdehyde induces damage on rat hippocampal neurons by disturbance of Ca(2+) homeostasis.

The objective of this study was to investigate the influences of carbonyl stress induced by malondialdehyde (MDA), a typical intermediate of lipid peroxidation, on intracellular free Ca(2+) concentration ([Ca(2+)](i)) alterations in cultured hippocampal neurons of rat. The microphotographic study clearly demonstrated that the hippocampal neurons became gradually damaged following exposure to different concentrations of MDA. Further study indicated that the plasma membrane Ca(2+)-ATPase (PMCA) activity was inhibited by MDA in a concentration- and time-dependent manner.

ZNF418, a novel human KRAB/C2H2 zinc finger protein, suppresses MAPK signaling pathway.

Cardiac differentiation involves a cascade of coordinated gene expression that regulates cell proliferation and matrix protein formation in a defined temporal-spatial manner. Zinc finger-containing transcription factors have been implicated as critical regulators of multiple cardiac-expressed genes, and are thought to be important for human heart development and diseases. Here, we have identified and characterized a novel zinc finger gene named ZNF418 from a human embryo heart cDNA library.

ZNF307, a novel zinc finger gene suppresses p53 and p21 pathway.

We have cloned a novel KRAB-related zinc finger gene, ZNF307, encoding a protein of 545aa. ZNF307 is conserved across species in evolution and is differentially expressed in human adult and fetal tissues. The fusion protein of EGFP-ZNF307 localizes in the nucleus.

A human homolog of mouse Lbh gene, hLBH, expresses in heart and activates SRE and AP-1 mediated MAPK signaling pathway.

It has been reported that mouse Lbh (limb-bud and heart) can regulate cardiac gene expression by modulating the combinatorial activities of key cardiac transcription factors, as well as their individual functions in cardiogenesis. Here we report the cloning and characterization of the human homolog of mouse Lbh gene, hLBH, from a human embryonic heart cDNA library. The cDNA of hLBH is 2927 bp long, encoding a protein product of 105 amino acids.

[Infrequent X chromosome abnormality and X-linked syndromic deafness].

Objective: To make clear the relationship between the X chromosome abnormality and sydromic deafness through genetic analysis of a pedigree with X-linked syndromic deafness.

Methods: The chromosome number and structure of the family members were analyzed by the standard and high resolution banding with Giemsa, and fluorescent in situ hybridization. The allelic number of the DNA segment in X chromosome was studied with genetic markers.

[Molecular cloning for an alternatively splicing cDNA of human PKNOX1 gene and it's expression analysis].

Down's syndrome (DS) is the most common chromosomal abnormality in live born infants. The cloning and characterization of genes on HC21 are necessary steps for the understanding of the molecular basis of Down's syndrome. To search for new Down's syndrome related genes, we have used bioinformatics analysis and rapid amplification of cDNA ends to identify an alternatively splicing cDNA of human PKNOX1 in Down's syndrome critical region on the long arm of human chromosome 21.