Now showing items 1-5 of 5

    • Autistic Children Exhibit Decreased Levels of Essential Fatty Acids in Red Blood Cells 

      Brigandi, Sarah A.; Shao, Hong; Qian, Steven Y.; Shen, Yiping; Wu, Bai-Lin; Kang, Jing X. (MDPI, 2015)
      Omega-6 (n-6) and omega-3 (n-3) polyunsaturated fatty acids (PUFA) are essential nutrients for brain development and function. However, whether or not the levels of these fatty acids are altered in individuals with autism ...
    • Automated DNA Mutation Detection Using Universal Conditions Direct Sequencing: Application to Ten Muscular Dystrophy Genes 

      Bennett, Richard R; Schneider, Hal E; Estrella, Elicia; Burgess, Stephanie; Cheng, Andrew S; Barrett, Caitlin; Lip, Va; Lai, Poh San; Shen, Yiping; Wu, Bai-Lin; Darras, Basil T.; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2009)
      Background: One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual ...
    • Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W 

      Reimold, Fabian R.; Balasubramanian, Savithri; Doroquez, David B.; Shmukler, Boris E.; Zsengeller, Zsuzsanna K.; Saslowsky, David; Thiagarajah, Jay R.; Stillman, Isaac E.; Lencer, Wayne I.; Wu, Bai-Lin; Villalpando-Carrion, Salvador; Alper, Seth L. (Frontiers Media S.A., 2015)
      Congenital chloride diarrhea is an autosomal recessive disease caused by mutations in the intestinal lumenal membrane Cl−/HCO−3 exchanger, SLC26A3. We report here the novel SLC26A3 mutation G393W in a Mexican child, the ...
    • GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment 

      Dai, Pu; Yu, Fei; Liu, Xuezhong; Wang, Guojian; Yuan, Yongyi; Huang, Deliang; Kang, Dongyang; Yuan, Huijun; Yao, Kun; Hao, Jinsheng; He, Yong; Wang, Youqin; Ye, Qing; Yu, Youjun; Lin, Hongyan; Liu, Lijia; Deng, Wei; Zhu, Xiuhui; You, Yiwen; Cui, Jinghong; Hou, Nongsheng; Xu, Xuehai; Song, Rendong; Lin, Yongjun; Sun, Shuanzhu; Zhang, Ruining; Ma, Yuebing; Zhu, Shanxiang; Han, Dongyi; Wong, Lee-Jun C; Wu, Bai-Lin; Han, Bing; Li, Qi; Liu, Xin; Zhang, Xin; He, Jia; Zhang, Jin; Tang, Liang; Wu, Hao (BioMed Central, 2009)
      Background: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. Methods: ...
    • Molecular Etiology of Hearing Impairment in Inner Mongolia: Mutations in SLC26A4 Gene and Relevant Phenotype Analysis 

      Dai, Pu; Yuan, Yongyi; Huang, Deliang; Zhu, Xiuhui; Yu, Fei; Kang, Dongyang; Yuan, Huijun; Han, Dongyi; Wong, Lee-Jun C; Wu, Bai-Lin (BioMed Central, 2008)
      Background: The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations. ...