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  1. No Access

    Article

    GABA Signaling Pathway-associated Gene PLCL1 Rare Variants May be Associated with Autism Spectrum Disorders

    Fengyun Zheng, Guoyuan Liu, Ting Dang, Qiaowen Chen, Yu An… in Neuroscience Bulletin (2021)

  2. No Access

    Article

    Extracellular Cl− regulates human SO4 2−/anion exchanger SLC26A1 by altering pH sensitivity of anion transport

    Genetic deficiency of the SLC26A1 anion exchanger in mice is known to be associated with hyposulfatemia and hyperoxaluria with nephrolithiasis, but many aspects of human SLC26A1 function remain to be explored....

    Meng Wu, John F. Heneghan, David H. Vandorpe… in Pflügers Archiv - European Journal of Phys… (2016)

  3. Article

    Open Access

    GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

    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.

    Pu Dai, Fei Yu, Bing Han, Xuezhong Liu, Guojian Wang… in Journal of Translational Medicine (2009)

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    Article

    Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

    We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-au-lait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. The deletion...

    Bai-Lin Wu, Richard G. Boles, Hana Yaari, Stanislawa Weremowicz… in Human Genetics (1997)

  5. No Access

    Article

    Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33

    Heart fatty acid binding protein (hFABP) is an abundant 14-kDa cytosolic protein thought to be involved in trafficking of fatty acids from the plasma membrane to sites of β-oxidation in mitochondria and peroxi...

    Robert F. Troxler, Gwynneth D. Offner, Jen-Wei Jiang, Bai-Lin Wu… in Human Genetics (1993)