Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus.

Abstract:

:Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder which seriously reduces childhood visual acuity. X-linked inheritance is the most common pattern, and mutations in FERM domain-containing protein 7 (FRMD7) are the major cause. Here, we recruited a four-generation Chinese family with X-linked ICN for the causative mutational screening of FRMD7. A novel missense variant, c.805 A > C, was identified in the proband. The mutation was confirmed in all the affected individuals but was not detected in unaffected family members or 100 unrelated Chinese male controls. The mutation causes a substitution of lysine to glutamine at position 269 (p.Lys269Gln, K269Q). The FRMD7 mutant inhibits the formation and extension of neurites. Moreover, the mutation disrupts FRMD7 interaction with calcium/calmodulin-dependent serine protein kinase and neurite formation. Together, our data expand the mutation spectrum of FRMD7 causing ICN and provide an insight into the pathogenesis of nystagmus.

authors

Wang Z,Wang M,Wang C,Lu B

doi

10.1093/abbs/gmy161

subject

Has Abstract

pub_date

2019-02-01 00:00:00

pages

178-184

issue

2

eissn

1672-9145

issn

1745-7270

pii

5254242

journal_volume

51

pub_type

杂志文章
  • Establishment and utilization of a tetracycline-controlled inducible RNA interfering system to repress gene expression in chronic myelogenous leukemia cells.

    abstract::RNA interference (RNAi), a posttranscriptional gene silencing process mediated by small double-stranded RNA specifically complementary to the targeted transcript, has been used extensively in the development of novel therapeutic approaches against various human diseases including chronic myelogenous leukemia (CML). He...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2005.00112.x

    authors: Yang F,Zhang Y,Cao YL,Wang SH,Liu L

    更新日期:2005-12-01 00:00:00

  • MicroRNA-363-3p suppresses anoikis resistance in human papillary thyroid carcinoma via targeting integrin alpha 6.

    abstract::MicroRNAs are highly conserved endogenous small noncoding RNAs and demonstrated to play important roles in the metastatic cascade of papillary thyroid carcinoma (PTC), including the process of anoikis resistance. In this study, the correlation between miRNA-363-3p (miR-363-3p) expression and PTC metastasis was analyze...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmz066

    authors: Pan Y,Zhu X,Wang K,Chen Y

    更新日期:2019-08-05 00:00:00

  • Downregulating integrin subunit alpha 7 (ITGA7) promotes proliferation, invasion, and migration of papillary thyroid carcinoma cells through regulating epithelial-to-mesenchymal transition.

    abstract::Thyroid cancer is one of the common malignancies of the endocrine system and the number of thyroid cancer cases is increasing constantly. Significant work has focused on the molecular mechanisms of thyroid cancer, but many mechanisms remain undiscovered. In this study, we employed a comprehensive analysis of whole-tra...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmz144

    authors: Guan Y,Bhandari A,Xia E,Kong L,Zhang X,Wang O

    更新日期:2020-02-03 00:00:00

  • Regulation of membrane band 3 Tyr-phosphorylation by proteolysis of p72(Syk) and possible involvement in senescence process.

    abstract::Erythrocyte senescence is characterized by exposure of cell surface epitopes on cell membrane proteins leading to immune mediated removal of red blood cells. One mechanism for antigen formation is tyrosine phosphorylation (Tyr-P) of the transmembrane protein band 3 by Syk kinase. Our aim was to test the hypothesis tha...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmp071

    authors: Bordin L,Fiore C,Bragadin M,Brunati AM,Clari G

    更新日期:2009-10-01 00:00:00

  • MiR-125a regulates chemo-sensitivity to gemcitabine in human pancreatic cancer cells through targeting A20.

    abstract::Pancreatic ductal adenocarcinoma (PDAC) is one of the most deadly human malignant diseases and the sixth leading cause of cancer-related deaths in China. Gemcitabine is the only first-line chemotherapeutic agent used for the palliative treatment of patients with PDAC, but chemo-resistance limits their efficacy. Here, ...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmv129

    authors: Yao J,Li Z,Wang X,Xu P,Zhao L,Qian J

    更新日期:2016-02-01 00:00:00

  • miR-27b-3p/MARCH7 regulates invasion and metastasis of endometrial cancer cells through Snail-mediated pathway.

    abstract::Ubiquitin E3 ligase membrane-associated RING-CH-type finger 7 (MARCH7), also known as axotrophin, was originally identified in mouse embryonic stem cells. MARCH7 is involved in T-cell proliferation, neuronal development, and the immune system. However, its role in endometrial cancer (EC) remains unclear. This study ai...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmz030

    authors: Liu L,Hu J,Yu T,You S,Zhang Y,Hu L

    更新日期:2019-05-23 00:00:00

  • Expressional analysis of an EREBP transcription factor gene OsEBP-89 in rice.

    abstract::OsEBP-89 gene encodes an ethylene responsive element binding protein (EREBP) transcription factor from rice (Oryza sativa). Northern blot analysis revealed that OsEBP-89 was expressed in root, stem, seeds, flowers and leaves of rice. Histochemical assay showed that GUS expressed mainly in phloem of vascular tissues of...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/36.1.21

    authors: Shen H,Wang ZY

    更新日期:2004-01-01 00:00:00

  • Production of the polyclonal anti-human metallothionein 2A antibody with recombinant protein technology.

    abstract::Metallothionein 2A (MT2A) is a small stress response protein that can be induced by exposure to toxic metals. It is highly expressed in breast cancer cells. In this study, the cDNA encoding the human MT2A protein was expressed as glutathione S-transferase (GST) fusion protein in Escherichia coli. Recombinant MT2A prot...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2006.00167.x

    authors: Marikar FM,Sun QM,Hua ZC

    更新日期:2006-05-01 00:00:00

  • SC1 inhibits the differentiation of F9 embryonic carcinoma cells induced by retinoic acid.

    abstract::The ability to self-renew is one of the most important properties of embryonic stem (ES) cells. Pluripotin (SC1), a small molecule with high activity and low toxicity, promotes self-renewal in mouse ES cells. SC1 can noticeably change the morphology of retinoic acid (RA)-induced F9 embryonic carcinoma cells (F9 cells)...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmy069

    authors: Liu Y,Ren X,Ke J,Zhang Y,Wei Q,Shi Z,Ai Z,Guo Z

    更新日期:2018-08-01 00:00:00

  • Effect of lentiviral vector-mediated KSR1 gene silencing on the proliferation of renal tubular epithelial cells and expression of inflammatory factors in a rat model of ischemia/reperfusion injury.

    abstract::Renal ischemia/reperfusion (I/R) is a common cause of acute renal failure in many clinical settings. Our study aimed to elucidate the role of lentiviral vector-mediated KSR1 gene silencing in inflammatory factor expression and proliferation of renal tubular epithelial cells (RTECs) in a rat model of I/R injury. Male S...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmy071

    authors: Bai Y,Han G,Guo K,Yu L,Du X,Xu Y

    更新日期:2018-08-01 00:00:00

  • Identification of a G-quadruplex forming sequence in the promoter of UCP1.

    abstract::G-quadruplexes are higher-order nucleic acid structures formed in G-rich sequences in DNA or RNA. G-quadruplexes are distributed in many locations in the human genome, including promoter regions, and are viewed as promising therapeutic targets. Uncoupling protein-1 (UCP1) is a mitochondrial thermogenic gene critical f...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmy059

    authors: Zhao Y,Uhler JP

    更新日期:2018-07-01 00:00:00

  • Role of peroxisome proliferator-activated receptor gamma in glucose-induced insulin secretion.

    abstract::Peroxisome proliferator-activated receptor (PPAR) isoforms (alpha and gamma) are known to be expressed in pancreatic islets as well as in insulin-producing cell lines. Ligands of PPAR have been shown to enhance glucose-induced insulin secretion in rat pancreatic islets. However, their effect on insulin secretion is st...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2006.00128.x

    authors: Xu ZK,Chen NG,Ma CY,Meng ZX,Sun YJ,Han X

    更新日期:2006-01-01 00:00:00

  • Novel cyclophosphamide of natural products osalmide and pterostilbene induces cytotoxicity and cell cycle arrest in diffuse large B-cell lymphoma cells.

    abstract::Diffuse large B-cell lymphoma (DLBCL) is the most common category and disease entity of non-Hodgkin lymphoma. Osalmide and pterostilbene are natural products with anticancer activities via different mechanism. In this study, using a new synthetic strategy for the two natural products, we obtained the compound DCZ0801,...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmaa009

    authors: Xi M,He W,Li B,Zhou J,Xu Z,Wu H,Zhang Y,Song D,Hu L,Lu Y,Bu W,Kong Y,Chen G,Chang S,Shi J,Zhu W

    更新日期:2020-04-20 00:00:00

  • Delivery of Tapasin-modified CTL epitope peptide via cytoplasmic transduction peptide induces CTLs by JAK/STAT signaling pathway in vivo.

    abstract::Hepatitis B virus (HBV)-specific cytotoxic T lymphocytes (CTLs) play a vital role in viral control and clearance. Recent studies have elucidated that Tapasin, an endoplasmic reticulum chaperone, is a well-known molecule that appears to be essential in peptide-loading process. The Janus kinase/signal transducers and ac...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmx133

    authors: Wu S,Chen X,Tang Y,Zhang Y,Li D,Chen J,Wang J,Tang Z,Zang G,Yu Y

    更新日期:2018-02-01 00:00:00

  • Alternative method for site-directed mutagenesis of complex polyketide synthase in Streptomyces albus JA3453.

    abstract::Sequence analysis of oxazolomycin (OZM) biosynthetic gene cluster from Streptomyces albus JA3453 revealed a gene, ozmH, encoding a hybrid polyketide and non-ribosomal peptide enzyme. Tandem ketosynthase (KS) domains (KS 10-1 and KS 10-2) were characterized and they show significant homology with known KSs. Using an al...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2008.00408.x

    authors: Song D,Coughlin J,Ju J,Zhou X,Shen B,Zhao C,Deng Z

    更新日期:2008-04-01 00:00:00

  • The combined influence of surface modification, size distribution, and interaction time on the cytotoxicity of CdTe quantum dots in PANC-1 cells.

    abstract::Mercaptopropionic acid (MPA) and cysteamine (Cys) capped CdTe quantum dots (QDs) were successfully prepared and used to investigate the combined influence of surface modification, size distribution, and interaction time on their cytotoxicity in human pancreatic carcinoma (PANC-1) cells. Results indicated that the smal...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmr126

    authors: Chang S,Kang B,Liu X,Dai Y,Chen D

    更新日期:2012-03-01 00:00:00

  • Betulinic acid induces apoptosis of gallbladder cancer cells via repressing SCD1.

    abstract::Gallbladder cancer (GBC) is the most common and aggressive malignancy of the biliary tract. Betulinic acid (BetA) has been reported to have anti-inflammatory and antitumor effects; however, the effect of BetA on GBC is still unknown. In this study, we investigated the effect of BetA on five GBC cell lines and found th...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmz148

    authors: Wang H,Dong F,Wang Y,Wang X,Hong D,Liu Y,Zhou J

    更新日期:2020-02-03 00:00:00

  • Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.

    abstract::Allelic loss of chromosome 3p, including the 3p21.3 region, is found in 95-100% of primary nasopharyngeal carcinoma (NPC) biopsies, suggesting that this region should harbor some tumor suppressor genes (TSGs) closely related to NPC development. Several TSGs located at 3p21.3, such as RASSF1A, LTF and BLU, have been de...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmn006

    authors: Zhou W,Feng X,Li H,Wang L,Zhu B,Liu W,Zhao M,Yao K,Ren C

    更新日期:2009-01-01 00:00:00

  • Roles of cortactin, an actin polymerization mediator, in cell endocytosis.

    abstract::Cortactin, an actin-binding protein and a substrate of Src, is encoded by the EMS1 oncogene. Cortactin is known to activate Arp2/3 complex-mediated actin polymerization and interact with dynamin, a large GTPase and proline rich domain-containing protein. Transferrin endocytosis was significantly reduced in cells by kn...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2006.00141.x

    authors: Chen L,Wang ZW,Zhu JW,Zhan X

    更新日期:2006-02-01 00:00:00

  • Beneficial effects of C-peptide on renal morphology in diabetic rats.

    abstract::The study was undertaken to examine the effects of C-peptide on glomerular volume (V(GLOM)), mesangial matrix synthesis, and degradation in streptozotocin (STZ)-diabetic rats with poor or moderate glycemic control. Series 1 (poor glycemic control) included groups of healthy rats, hyperglycemic rats, diabetic insulin-t...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmq100

    authors: Sun W,Gao X,Zhao X,Cui D,Xia Q

    更新日期:2010-12-01 00:00:00

  • Heat shock protein 90 mediates the apoptosis and autophage in nicotinic-mycoepoxydiene-treated HeLa cells.

    abstract::Heat shock protein 90 (Hsp90) is a fascinating target for cancer therapy due to its significant role in the crossroad of multiple signaling pathways associated with cell proliferation and regulation. Hsp90 inhibitors have the potential to be developed into anti-cancer drugs. Here, we identified nicotinic-mycoepoxydien...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmv034

    authors: Sun Y,Xiao S,Chen J,Wang M,Zheng Z,Song S,Zhang L

    更新日期:2015-06-01 00:00:00

  • The regulation and function of YAP transcription co-activator.

    abstract::The Hippo pathway was initially identified in Drosophila by genetic mosaic screens for tumor suppressor genes. Researches indicated that the Hippo pathway is a key regulator of organ size and is conserved during evolution. Furthermore, studies of mouse models and clinical samples demonstrated the importance of Hippo p...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章,评审

    doi:10.1093/abbs/gmu110

    authors: Zhu C,Li L,Zhao B

    更新日期:2015-01-01 00:00:00

  • Viral suppression function of intracellular antibody against C-terminal domain of rabies virus phosphoprotein.

    abstract::Rabies virus (RV) causes a fatal disease in both human and animals. The disease can be prevented by post-exposure prophylaxis in individuals exposed to RV. However, the neutralization effect is limited after the virus enters into the host cells. So, it is important to identify new targets for rabies therapy. In this s...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmv060

    authors: Liu Y,Sun L,Yu P,Li A,Li C,Tang Q,Li D,Liang M

    更新日期:2015-10-01 00:00:00

  • AMPKα1 regulates Idh2 transcription through H2B O-GlcNAcylation during brown adipogenesis.

    abstract::AMP-activated protein kinase (AMPK) is indispensable for the development and maintenance of brown adipose tissue (BAT), and its activity is inhibited due to obesity. The isocitrate dehydrogenase 2 (IDH2) is a mitochondrial enzyme responsible for the production of α-ketoglutarate, a key intermediate metabolite integrat...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmaa136

    authors: Cao Y,Liu X,Zhao J,Du M

    更新日期:2021-01-12 00:00:00

  • Kaempferol protects ethanol-induced gastric ulcers in mice via pro-inflammatory cytokines and NO.

    abstract::Gastric ulcers (GUs) are common pathologies that affect many people around the world. Excessive alcohol consumption is one of the main causes of GUs; however, there are still lack of effective drugs for the prevention or therapy of GUs. In this study, we evaluated the protective effects and possible mechanisms of kaem...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmy002

    authors: Li Q,Hu X,Xuan Y,Ying J,Fei Y,Rong J,Zhang Y,Zhang J,Liu C,Liu Z

    更新日期:2018-03-01 00:00:00

  • Correlation between circulating endothelial progenitor cells and serum carcinoembryonic antigen level in colorectal cancer.

    abstract::Circulating endothelial progenitor cells (cEPCs) play an important role in cancer development. Previous studies showed that serum carcinoembryonic antigen (CEA) levels and the number of circulating endothelial progenitor cells (cEPCs) in the peripheral blood are both involved in tumor neoangiogenesis, and can be used ...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmx147

    authors: Li Y,Liu J,Zhao Z,Wen L,Li H,Ren J,Liu H

    更新日期:2018-03-01 00:00:00

  • Characterization of Nocardia plasmid pXT107.

    abstract::Nocardia, Rhodococcus and Streptomyces, all members of the actinomycetes family, are Gram-positive eubacteria with high G+C content and able to form mycelium. We report here a newly identified plasmid pXT107 of Nocardia sp. 107, one of the smallest circular plasmids found in Nocardia. The complete nucleotide sequence ...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1111/j.1745-7270.2006.00207.x

    authors: Xia HY,Tian YQ,Zhang R,Lin KC,Qin ZJ

    更新日期:2006-09-01 00:00:00

  • Biochemical characterization and ligand-binding properties of trehalose-6-phosphate phosphatase from Mycobacterium tuberculosis.

    abstract::Trehalose-6-phosphate phosphatase (TPP) is an essential enzyme for growth of mycobacteria, which has been identified to be a potential anti-tuberculosis drug target. However, the biochemical and ligand-binding properties and the 3D structure of TPP remain unclear so far. In the present study, we expressed the recombin...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmt084

    authors: Shi L,Zhang H,Qiu Y,Wang Q,Wu X,Wang H,Zhang X,Lin D

    更新日期:2013-10-01 00:00:00

  • Inverted meiosis: an alternative way of chromosome segregation for reproduction.

    abstract::Canonical meiosis is characterized by two sequential rounds of nuclear divisions following one round of DNA replication-reductional segregation of homologous chromosomes during the first division and equational segregation of sister chromatids during the second division. Meiosis in an inverted order of two nuclear div...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章,评审

    doi:10.1093/abbs/gmaa054

    authors: Li W,He X

    更新日期:2020-07-10 00:00:00

  • Adiponectin attenuates lipopolysaccharide-induced cell injury of H9c2 cells by regulating AMPK pathway.

    abstract::Adiponectin, an adipokine synthesized and secreted majorly by adipose tissue, is reported to exert cardioprotective properties via anti-inflammation and antiapoptosis. Lipopolysaccharide (LPS) is a common inflammation and apoptosis inducer of cardiomyocytes. However, few studies have reported the roles of adiponectin ...

    journal_title:Acta biochimica et biophysica Sinica

    pub_type: 杂志文章

    doi:10.1093/abbs/gmy162

    authors: Hao R,Su G,Sun X,Kong X,Zhu C,Su G

    更新日期:2019-02-01 00:00:00