Publications by authors named "Mingya Gao"

Objective: To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.

Methods: WES was applied to a couple seeking reproductive advice, the female with short stature and the male with congenital cataracts.

Results: (1) The woman exhibited a 13.

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Background: Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white.

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Purpose: The application value of ultrasound soft indicators in prenatal diagnosis was evaluated by copy number variation sequencing (CNV-seq).

Methods: The authors conducted a retrospective analysis of 422 pregnant women who underwent CNV-seq testing at Luoyang Maternal and Child Health Hospital between January 2020 and November 2021. The women had presented with abnormal ultrasound soft markers; those identified as high-risk through non-invasive prenatal screening were excluded.

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Objective: To investigate the effects of alkaloid monomers from Gelsemium elegans on proliferation of HepG2 cell in vitro and the possible mechanism.

Methods: MTT assay was used to measure the inhibitory of three alkaloid monomers on HepG2 cell in vitro. The most effective fraction was chosen to test whether the effect was in time-and dose-dependent manner.

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