syndrome
gene
reagent
sample publication
sample review
total:4
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. 2006 to the paper
Chemicon NaV1.1 antibody was used in western blot and immunohistochemistry to study the role of educed sodium currents in GABAergic inhibitory interneurons in Scn1a+/- heterozygotes in SMEI. more
total:5
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. 2007 to the paper
USBiological polyclonal antibody against Kir4.1 was used in immunoprecipitation and western blot to isolate and detect Kir4.1 in human brain lysates, and in immunohistochemistry to detect aquaporin-4 distribution in human brain tissues and human glioblastoma multiforme tissues from MLC patients more
total:3
Human ?-defensin 6 promotes mucosal innate immunity through self-assembled peptide nanonets. 2012 to the paper
Difco anti-LPS was used to perform immunocytochemistry in order to show that mucosal innate immunity could be promoted by HD6 self-assembly. more
total:3
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. 2010 to the paper
ABCAM anti-FOXL2 antibody was used in immunocytochemistry in order to find the counterpart of forkhead transcription factor- FOXL2 and elucidate the role of its sumoylation more
total:1
Conditional deletion of Hand2 reveals critical functions in neurogenesis and cell type-specific gene expression for development of neural crest-derived noradrenergic sympathetic ganglion neurons. 2008 to the paper
J-F. Brunet rabbit Phox2b antibody (1:1000) was used in immunohistochemistry in order to demonstrate that Hand2 is a multifunctional DNA binding protein affecting differentiation and cell type-specific gene expression in neural crest-derived noradrenergic sympathetic ganglion neurons
total:2
Cooperative control via lymphoid enhancer factor 1/T cell factor 3 and estrogen receptor-alpha for uterine gene regulation by estrogen. 2008 to the paper
Santa Cruz Biotechnology affinity-purified polyclonal Wnt-4 antibody was used in western blot in order to demonstrate that integration beta-catenin/Lef-1/Tcf-3 signaling with ERalpha is necessary for estrogen-dependent endogenous gene regulation in uterine biology more
total:4
Deletion of the NADPH-cytochrome P450 reductase gene in cardiomyocytes does not protect mice against doxorubicin-mediated acute cardiac toxicity. 2008 to the paper
Stressgen anti-CPR antibody (1:1000) was used in western blot in order to study the role of cardiomyocyte CPR and CPR-dependent enzymes in doxorubicin (Dox) mediated acute cardiotoxicity more
total:6
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. 2009 to the paper
Zymed Laboratories anti-Cxs26 was used as primary antibody in immunoprecipitation in order to prove that the mutations at the two contributor genes of non-syndromic deafness can cause hearing loss in a heterozygous condition. more
total:16
A biphasic innate immune MAPK response discriminates between the yeast and hyphal forms of Candida albicans in epithelial cells. 2010 to the paper
Cell Signaling Technologies anti-phospho-MEK1/2 antibody was used to perform western blot in order to study the discrimination between the yeast and hyphal forms of C. albicans in epithelial cells via a biphasic MAPK response. more
total:2
Intracellular and trans-synaptic regulation of glutamatergic synaptogenesis by EphB receptors. 2006 to the paper
R & D Systems EphrinB1 antibody was used in immunocytochemistry to demonstrate that EphB2 acts to control the organization of specific classes of mature glutamatergic synapses. more
total:1
Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. 2008 to the paper
Covance Ahi1 antibody was used in western blot in order to study the pathogenesis of Joubert syndrome and the role of the Ahi1-Hap1 complex in early brain development
total:4
Overexpression of beta1-chain-containing laminins in capillary basement membranes of human breast cancer and its metastases. 2005 to the paper
Developmental Studies Hybridoma Bank mouse monoclonal anti-Laminin beta2 chain antibody was used in western blot and immunohistochemistry to study the overexpression of beta1-chain-containing laminins in capillary basement membranes of human breast cancer and its metastases. more
total:11
Abelson interacting protein 1 (Abi-1) is essential for dendrite morphogenesis and synapse formation. 2007 to the paper
Santa Cruz rabbit Sos-1 antibody was used in western blot to study the role of Abi-1 in morphogenesis and synapse formation. more
total:4
The DEAD-box protein Dhh1 promotes decapping by slowing ribosome movement. 2012 to the paper
Qiagen anti-RGS-his antibody was used to perform western blot to study the role of Dhh1 in the decapping and turnover of mRNA. more
total:3
Multiple regulatory steps control mammalian nonmuscle myosin II assembly in live cells. 2009 to the paper
Sigma anti-NMHC-IIA antibody was used to perform western blot in order to study the assemble of mammalian nonmuscle myosin II in live cells. more
total:6
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. 2008 to the paper
BD Biosciences mouse monoclonal Rab27A antibody was used in western blot in order to study the role of Switch I region in the recruitment of Rab effector proteins. more
total:23
Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells. 2009 to the paper
Abcam rabbit polyclonal anti-GLUT1 antibody was used to perform immunoblot in order to study the roles of the glucose deprivation during the development of KRAS pathway mutation. more
total:57
IL-2 and IL-4 stimulate MEK1 expression and contribute to T cell resistance against suppression by TGF-beta and IL-10 in asthma. 2010 to the paper
Cell Signaling Technology anti-MEK1 antibody was used to perform flow cytometry and immunochemistry in order to study the signaling mechanism in the resistance of T cells from asthmatic patients against suppression by TGFbeta and IL-10. more
total:57
RanBP2/Nup358 potentiates the translation of a subset of mRNAs encoding secretory proteins. 2013 to the paper
Santa Cruz lamin A/C goat polyclonal (1:1000)was used to perform the immunoblotting to study the translation of a subset of mRNAs encoding secretory proteins potentiated by RanBP2/Nup358. more
total:23
Phosphorylation of TRAF2 within its RING domain inhibits stress-induced cell death by promoting IKK and suppressing JNK activation. 2009 to the paper
Santa Cruz anti-TNFR1 antibody was used to perform western blot in order to study the mechanism that TRAF2 inhibits stress-induced cell death. more
total:11
Interactions of human mismatch repair proteins MutSalpha and MutLalpha with proteins of the ATR-Chk1 pathway. 2010 to the paper
Santa Cruz Biotechnology anti-PMS2 antibody was used for western blot in order to investigate the roles of MutSalpha and MutLalpha in the regulation of ATR-Chk1 pathway. more
total:2
N-cadherin interacts with axin and LRP5 to negatively regulate Wnt/beta-catenin signaling, osteoblast function, and bone formation. 2009 to the paper
Cell Signaling anti-LRP5 antibody was used in western blot in order to show that Wnt/catenin signaling, osteoblast function, and bone formation can be negatively regulated by the N-cadherin-axin-LRP5 interaction. more
total:15
A stem cell-based approach to cartilage repair. 2012 to the paper
Abcam anti-type II collagen antibody was used to perform immunocytochemistry in order to show that kartogenin could be used to induce chondrocyte differentiation for osteoarthritis treatment. more
total:1
Mediator modulates Gli3-dependent Sonic hedgehog signaling. 2006 to the paper
Susan Mackem (National Cancer Institute) Gli3 antibody was used in western blot to study the mechanism by which Gli proteins regulate target gene transcription in the nucleus.
total:11
The CRAC channel activator STIM1 binds and inhibits L-type voltage-gated calcium channels. 2010 to the paper
Chemicon anti-CaV1.2 antibody was used to carry out western blot analysis in order to investigate the role for STIM1 in coordinating Voltage- and store-operated calcium channels to generate coherent calcium signals. more
total:17
The protein tyrosine kinase Tec regulates a CD44highCD62L- Th17 subset. 2010 to the paper
eBioscience Alexa 647 anti-FoxP3 monoclonal antibody was used to perform flow cytometry to study the role of tyrosine kinase Tec in the generation of CD44highCD62L- Th17 subset. more
total:38
Acetylation of FoxO1 activates Bim expression to induce apoptosis in response to histone deacetylase inhibitor depsipeptide treatment. 2009 to the paper
Santa Cruz Biotechnology anti-CBP antbody was used in western blot in order to demonstrate that an HDAC inhibitor induces apoptosis through the FoxO1 acetylation-Bim pathway more
total:26
Tnfa signaling through tnfr2 protects skin against oxidative stress-induced inflammation. 2014 to the paper
Santa Cruz Biotechnology anti-p63 antibody was used to perform immunohistochemistry in order to study TNFa/TNFR2 axis protective role for skin against DUOX1-mediated oxidative stress. more
total:2
The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. 2006 to the paper
Santa Cruz Biotechnology polyclonal anti-CSB antibody was used in human HeLa cells and in western blot to study the interaction of WSTF-SNF2h chromatin remodeling complex with several nuclear proteins in transcription. more
total:9
Identification of a filamin docking site on PTP-PEST. 2006 to the paper
Chemicon International monoclonal antibody against filamin-A was used in immunocytochemistry to detect filamin-A expression in HeLa cells more
total:13
Repressive LTR nucleosome positioning by the BAF complex is required for HIV latency. 2011 to the paper
Abcam anti-SMARCB4 antibody was used to perform western blot in order to study the role of SWI/SNF in regulation of the latent HIV LTR before and after transcriptional activation. more
total:5
Fragile X mental retardation protein FMRP and the RNA export factor NXF2 associate with and destabilize Nxf1 mRNA in neuronal cells. 2007 to the paper
Chemicon monoclonal anti-FMRP antibody was used in immunoprecipitation and immunohistochemistry to study the association of FMRP and NXF2 with destabilize Nxf1 mRNA in neuronal cells. more
total:26
Spatial coupling of mTOR and autophagy augments secretory phenotypes. 2011 to the paper
Calbiochem/Merck anti-H-Ras antibody was used to perform western blot in order to study the role of spatial coupling of cells' catabolic and anabolic machinery in facilitating the synthesis of secretory proteins. more
total:2
Voltage-gated sodium channels in taste bud cells. 2009 to the paper
Chemicon rabbit polyclonal antibody against SCN9A was used in immunohistochemistry to investigate the role of SCN2A, SCN3A, and SCN9A in the regulation of taste cell action potentials. more
total:8
Sonic Hedgehog promotes tumor cell survival by inhibiting CDON pro-apoptotic activity. 2013 to the paper
R&D systems monoclonal anti-mouse SHH N-term peptide antibody and biotinylated anti-mouse SHH antibody were used to perform ELISA in order to investigate the role of CDON in regulating tumor cell survival. more
total:1
Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. 2006 to the paper
Alexis rabbit polyclonal anti-Nalp3 antibody (which recognizes WT, R260W, and D303N cryopyrins) was used in human cells and in immunocytochemistry to study the role of cryopyrin and pyrin in activating caspase-1.
total:2
NOD2/CARD15 mediates induction of the antimicrobial peptide human beta-defensin-2. 2006 to the paper
Cayman Chemical NOD2-specific rabbit antiserum was used in immunoprecipitation and western blot to measure its expression in primary keratinocytes and transfected HEK293 cells. more
total:7
Lysosomal-associated protein multispanning transmembrane 5 gene (LAPTM5) is associated with spontaneous regression of neuroblastomas. 2009 to the paper
Santa Cruz Biotechnology MYCN antibody was used to perform western blot in order to investigate the relations between LAPTM5 and spontaneous regression of neuroblastomas more
total:5
Aberrant promoter methylation of SPARC in ovarian cancer. 2009 to the paper
Epigentek anti-DNMT3b antibody was used for ChIP assays in order to study the role of SPARC in therapeutic process for ovarian cancer. more
total:4
The orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanoma. 2010 to the paper
R&D Wnt5A antibody was used to perform western blot in order to investigate the effection of Wnt5A to ROR2 more
total:20
CD38 and CD157 ectoenzymes mark cell subsets in the human corneal limbus. 2009 to the paper
Santa Cruz Biotech polyclonal goat anti-connexin 43 antibody was used in immunohistochemistry in order to demonstrate that the normal human cornea is equipped with a molecular tool to actively metabolize NAD+, helping maintain corneal homeostasis more
total:3
How do human cells react to the absence of mitochondrial DNA?. 2009 to the paper
Invitrogen anti-SDH antibody was used for western blot to study the reaction of human cells to the absence of mitochondrial DNA. more
total:34
Autoamplification of Notch signaling in macrophages by TLR-induced and RBP-J-dependent induction of Jagged1. 2010 to the paper
Santa Cruz Biotechnology polyclonal anti-Shp2 antibody was used to perform western blot in order to study Notch signaling auto-amplification in macrophages which was regulated by TLR and RBP-J. more
total:51
Autocrine bone morphogenetic protein-9 signals through activin receptor-like kinase-2/Smad1/Smad4 to promote ovarian cancer cell proliferation. 2009 to the paper
Zymed Smad3 polyclonal antibody was used in western blot in order to investigate the role of BMP9 signalling via ALK2/Smad1/Smad4 pathway in ovarian cancer. more
total:7
Single-cell mass cytometry of differential immune and drug responses across a human hematopoietic continuum. 2011 to the paper
Biolegend anti-HLADR was used in 2ug/ml to perform mass cytometry in order to show that different stimulation effect of human hematopoietic cells could be analysized by single-cell mass cytometry. more