establishment-valuable-mimic-alzheimer-s-disease-rat-animal-model

Establishment of a Valuable Mimic of Alzheimer's Disease in Rat Animal Model by Intracerebroventricular Injection of Composited Amyloid Beta Protein

Alzheimer&#39;s disease (AD) is an irreversible, progressive brain disease that slowly destroys memory and is accompanied by neuron loss and structure ...

Shijiazhuang Obstetrics and Gynecology Hospital

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay.

Congenital cataracts, which are a clinically and genetically heterogeneous group of eye disorders, lead to visual impairment and are a significant cause of blindness in childhood. A major proportion of the causative mutations for congenital cataracts are found in crystallin genes. In the present study, a novel deletion mutation (c.590‑591delAG) in exon 6 of CRYBA1/A3 was identified in a large family with autosomal dominant congenital cataracts. An increase in local hydrophobicity was predicted around the mutation site; however, further studies are required to determine the exact effect of the mutation on βA1/A3‑crystallin structure and function. To the best of our knowledge, this is the first report of an association between a frameshift mutation in exon 6 of CRYBA1/A3 and congenital cataracts. 

Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.

To evaluate the association between the introduction of neuraxial (epidural) labor analgesia and mode of delivery in a large urban maternity hospital in China.

Impact of the introduction of neuraxial labor analgesia on mode of delivery at an urban maternity hospital in China.

Bone morphogenetic protein-6 (BMP-6), which is a member of the transforming growth factor-β superfamily, is associated with the regulation of bone development and various physiological processes. In the present study, the expression of BMP-6 in follicular fluid and granulosa cells (GCs) from pregnant and non-pregnant patients was explored. A total of 44 pregnant patients (pregnant group) and 36 non-pregnant patients (non-pregnant group) were recruited for the present study. The expression of BMP-6 was detected using western blotting and reverse transcription-quantitative polymerase chain reaction. The expression of BMP-6 was significantly higher at the protein level (P<0.01) in follicular fluid obtained from the pregnant group compared with that from the non-pregnant group. The mRNA and protein expression of BMP-6 in GCs were significantly upregulated in the pregnant group compared with the non-pregnant group (both P<0.01). These results suggest that high expression of BMP-6 in pregnant women may be a novel biomarker for the fertility process.

Article	Year
A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay. Journal of genetics\| PubMed ID: 24840832	2014
Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. Molecular medicine reports\| PubMed ID: 24926697	2014
Impact of the introduction of neuraxial labor analgesia on mode of delivery at an urban maternity hospital in China. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics\| PubMed ID: 25579749	2015
Increased bone morphogenetic protein-6 in follicular fluid and granulosa cells may correlate with fertilization and embryo quality in humans. Experimental and therapeutic medicine\| PubMed ID: 28810575	2017

Cao Qinying

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