Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …

Melanocyte development is orchestrated by a complex interconnecting regulatory network of
genes and synergistic interactions. Piebaldism and Waardenburg syndrome are …

Hearing loss is the most common sensory deficit in humans. Identifying the genetic cause
and genotype‐phenotype correlation of hearing loss is sometimes challenging due to …

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities,
deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of …

The SRY-related HMG box gene 10 (SOX10), located on 22q13. 1, encodes a member of
the SOX family of transcription factors involved in the regulation of embryonic development …

旨在探究山羊DCT 基因启动子活性区及相关转录因子对该基因的调控作用, 为山羊DCT
基因的表达调控提供理论依据. 通过对山羊DCT 基因5'侧翼区序列及第一外显子区序列进行生物 …

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of
hereditary hearing loss characterized by varying combinations of sensorineural hearing loss …

Purpose: To identify disease associated mutations in a male infant with congenital heart
defects and heterochromia. Methods: A detailed clinical examination and routine laboratory …

目的: 探讨SOX10 在膀胱癌细胞中促进内皮细胞增殖, 迁移和成管中的作用. 方法:
利用Lipofectamine 2000 在体外将SOX10 siRNA 瞬时转染膀胱癌细胞株T24, 转染48 h …

Endocrine cancers: Endocrine cancers are an important category of cancers. The
frequencies of different types of endocrine cancers vary greatly. While thyroid cancer …