Affinage

USH1G

pre-mRNA splicing regulator USH1G · UniProt Q495M9

Length
461 aa
Mass
51.5 kDa
Annotated
2026-04-28
100 papers in source corpus 17 papers cited in narrative 17 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SANS (USH1G) is a multi-domain scaffold protein that organizes mechanotransduction complexes in sensory cells, regulates intraflagellar transport and endocytosis, and participates in nuclear pre-mRNA splicing. In auditory hair cells, SANS forms a tripartite complex with MYO7A and harmonin (USH1C) at the upper tip-link density via liquid-liquid phase separation, and interacts with cadherin-23 and protocadherin-15 at the lower tip-link end to maintain tip-link integrity and positively regulate F-actin polymerization; loss of SANS causes stereocilia disorganization and reduced mechanotransduction (PMID:21709241, PMID:21436032, PMID:31644917). In photoreceptor cells, SANS scaffolds USH1/USH2 protein networks in the periciliary region, directly binds IFT-B proteins (IFT52, IFT57) to position intraflagellar transport machinery at the ciliary base, and undergoes CK2-mediated phosphorylation that controls Magi2-dependent endocytosis and ciliogenesis (PMID:28137943, PMID:31637240, PMID:24608321). In the nucleus, SANS localizes to Cajal bodies and nuclear speckles where it binds tri-snRNP components (PRPF31, PRPF6, SF3B1) and mediates their transfer between compartments for spliceosome assembly; pathogenic USH1G mutations cause Usher syndrome type 1G and disrupt each of these functions (PMID:34023904, PMID:12588794).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2003 High

    Identification of SANS as an ankyrin/SAM/PDZ-binding-motif scaffold that associates with harmonin established it as a core component of the USH1 protein network, answering how USH1G mutations cause Usher syndrome at the molecular level.

    Evidence Positional cloning, domain analysis, co-transfection/co-IP in heterologous cells; BAC rescue of Jackson shaker mice with stereocilia disorganization

    PMID:12588793 PMID:12588794

    Open questions at the time
    • Precise subcellular site of SANS-harmonin interaction in hair cells unknown
    • Mechanism by which SANS loss causes stereocilia disorganization unresolved
  2. 2007 Medium

    Localization of SANS to the photoreceptor ciliary apparatus and synaptic terminals extended its role beyond the ear, revealing it as a general sensory-cell scaffold linking the USH1 network to ciliogenesis and synaptic function.

    Evidence Subcellular fractionation and immunocytochemistry in mammalian retina

    PMID:17923142

    Open questions at the time
    • Functional consequence of SANS loss in retinal photoreceptors not yet tested
    • Binding partners at the ciliary apparatus not identified
  3. 2011 High

    Placing SANS at the upper tip-link density in a tripartite complex with MYO7A and harmonin-b, and simultaneously at the lower tip-link end interacting with cadherin-23 and protocadherin-15, resolved where SANS acts in the mechanotransduction apparatus and showed it positively regulates F-actin polymerization and tip-link integrity.

    Evidence Immunofluorescence, GFP tagging, cotransfection in heterologous cells, Ush1g knockout and conditional knockout mice with electrophysiology

    PMID:21156003 PMID:21436032 PMID:21709241

    Open questions at the time
    • How SANS simultaneously operates at upper and lower tip-link densities not clear
    • Direct mechanism linking SANS to F-actin polymerization unknown
    • Stoichiometry of the tripartite complex not determined
  4. 2011 Medium

    Discovery of SANS binding to the Golgi-associated protein myomegalin and co-localization with microtubules in photoreceptor inner segments implicated SANS in microtubule-dependent cargo transport toward the ciliary base.

    Evidence Yeast two-hybrid screen, in vitro binding, immunohistochemistry, correlative EM

    PMID:21767579

    Open questions at the time
    • No cargo identified that SANS transports along microtubules
    • Functional consequence of disrupting SANS-myomegalin interaction not tested in vivo
  5. 2014 High

    Identification of CK2 as the kinase phosphorylating the SAM-domain PDZ-binding motif of SANS, and demonstration that this phosphorylation controls SANS-Magi2 complex assembly to regulate endocytosis and ciliogenesis, established the first signaling-regulated switch governing SANS scaffold function.

    Evidence Phosphorylation assays, co-IP, RNAi, functional endocytosis and ciliogenesis assays

    PMID:24608321

    Open questions at the time
    • Upstream signals activating CK2 toward SANS not identified
    • Phosphatase reversing this modification unknown
  6. 2016 High

    Genetic epistasis between heterozygous Ush1g and Cdh23 mutations causing progressive hearing loss proved that SANS and CDH23 function in a shared genetic pathway for long-term stereocilia maintenance, not just initial bundle formation.

    Evidence CRISPR knock-in Cdh23, double-heterozygous mice, audiometry, stereocilia morphology

    PMID:26936824

    Open questions at the time
    • Whether epistasis extends to retinal degeneration not tested
    • Biochemical basis of the genetic interaction beyond physical binding not defined
  7. 2017 High

    Demonstration that SANS bridges the USH1 and USH2 networks by forming a ternary complex with ush2a and whirlin in the periciliary region explained how mutations in different USH genes converge on the same disease, and showed pharmacological read-through can restore SANS scaffold function.

    Evidence Protein-protein interaction assays, proximity ligation assays, pharmacological read-through of nonsense mutation

    PMID:28137943

    Open questions at the time
    • In vivo efficacy of read-through treatment on retinal function not established
    • Structure of the USH1-USH2 ternary complex not resolved
  8. 2018 High

    Showing that glutathionylation of harmonin promotes its interaction with SANS and that GRXCR1 reverses this modification revealed a redox-dependent regulatory mechanism controlling USH1 complex dynamics during hair bundle morphogenesis.

    Evidence In vitro glutathionylation assays, zebrafish grxcr1 mutants, hair bundle morphology

    PMID:30380418

    Open questions at the time
    • Whether glutathionylation regulation operates in mammalian hair cells in vivo unknown
    • Physiological stimuli triggering glutathionylation not defined
  9. 2019 High

    Two advances recast SANS function: (1) discovery that the MYO7A/harmonin/SANS complex undergoes liquid-liquid phase separation provided a biophysical mechanism for tip-link density assembly; (2) direct binding to IFT52 and IFT57 at the ciliary base defined SANS as a positioning factor for intraflagellar transport.

    Evidence In vitro phase separation reconstitution, cell transfection condensate assays, yeast two-hybrid, SANS knockout mouse quantitative immunofluorescence

    PMID:31637240 PMID:31644917

    Open questions at the time
    • Whether phase separation occurs in native hair cell stereocilia not demonstrated
    • Mechanism by which SANS positions IFT-B at the ciliary base (tethering vs. transport) unresolved
  10. 2021 High

    Discovery of SANS in Cajal bodies and nuclear speckles, where it transfers tri-snRNP complexes between compartments for spliceosome assembly, revealed an unexpected nuclear function and connected USH1G mutations to widespread splicing defects.

    Evidence Immunolocalization, co-IP, RNAi depletion with spliceosome complex A accumulation, RNA-seq

    PMID:34023904

    Open questions at the time
    • How SANS is imported into the nucleus and what controls its cytoplasmic-nuclear partitioning unknown
    • Whether splicing defects contribute to retinal degeneration in USH1G patients not tested
  11. 2023 Medium

    Mapping two distinct PRPF31 and PRPF6 binding sites on the SANS CENTn domain, and showing sequential binding induces a disorder-to-helix transition, provided the first structural-level insight into how SANS assembles tri-snRNP subcomplexes.

    Evidence FRET assays in cells, deep learning structure prediction, mutagenesis

    PMID:38139438

    Open questions at the time
    • Structural model relies partly on computational prediction; awaits experimental structure determination
    • Whether SANS acts catalytically or stoichiometrically in tri-snRNP assembly not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SANS coordinates its multiple compartment-specific functions — stereocilia mechanotransduction, ciliary IFT positioning, endocytosis, and nuclear splicing — remains unresolved, and whether disrupted splicing contributes to the sensory degeneration phenotype in Usher syndrome type 1G is unknown.
  • Regulatory mechanism controlling SANS partitioning between cytoplasmic and nuclear pools unknown
  • No high-resolution structure of full-length SANS or any of its multi-protein complexes
  • Relative contribution of splicing versus ciliary/stereocilia dysfunction to Usher syndrome pathology undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0005198 structural molecule activity 3
Localization
GO:0005856 cytoskeleton 2 GO:0005929 cilium 2 GO:0005634 nucleus 1 GO:0005654 nucleoplasm 1 GO:0005730 nucleolus 1 GO:0005768 endosome 1
Pathway
R-HSA-9709957 Sensory Perception 4 R-HSA-1643685 Disease 3 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-5653656 Vesicle-mediated transport 2 R-HSA-8953854 Metabolism of RNA 2
Partners
CDH23MAGI2MYO7APCDH15PRPF31USH1CUSH2AWHRN
Complex memberships
MYO7A-harmonin-SANS tripartite complex (UTLD)USH1/USH2 periciliary complex (SANS-ush2a-whirlin)tri-snRNP transfer complex (SANS-PRPF31-PRPF6)

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 SANS (USH1G protein) contains three ankyrin domains, a sterile alpha motif (SAM), and a C-terminal class I PDZ-binding motif; co-transfection experiments demonstrated that SANS associates with harmonin (USH1C), a PDZ domain-containing protein, establishing SANS as part of a functional USH1 protein network required for hair bundle cohesion. Co-transfection/co-immunoprecipitation, domain analysis, positional cloning with mutation identification Human molecular genetics High 12588794
2003 Loss-of-function mutations in the mouse Sans gene (frameshift insertions causing truncation of the C-terminal SAM domain) cause disorganized stereocilia bundles in cochlear hair cells, establishing Sans as essential for stereocilia bundle development and maintenance. Positional cloning, BAC transgenesis rescue, histological analysis of cochlear hair cells in Jackson shaker mice Human molecular genetics High 12588793
2005 A missense mutation D458V at the -3 position of the PDZ-binding motif of SANS impairs its interaction with harmonin, as demonstrated by molecular modeling, linking the PDZ-binding motif to the SANS-harmonin interaction and causing atypical Usher syndrome. Mutation analysis, molecular modeling of PDZ-binding motif interaction Journal of molecular medicine Medium 16283141
2007 SANS localizes to synaptic terminals, cell-cell adhesions of the outer limiting membrane, and the ciliary apparatus of photoreceptor cells in mammalian retina, functioning as a scaffold protein in USH protein networks during ciliogenesis and at the ribbon synapse. Subcellular fractionation, immunocytochemistry, tangential cryosections of developing and mature retinas Vision research Medium 17923142
2011 SANS and MYO7A co-localize at the stereocilia upper tip-link density (UTLD); cotransfection studies in heterologous cells show MYO7A, SANS, and harmonin-b form a tripartite complex, with each protein capable of interacting with the others independently, implicating this complex in maintaining tip-link resting tension during mechanotransduction. Immunofluorescence localization, GFP-tagged construct transfection in hair cells, cotransfection in heterologous system Proceedings of the National Academy of Sciences of the United States of America High 21709241
2011 SANS is a critical component of the tip-link complex at the lower end of the tip-link in auditory hair cells: Ush1g knockout mice show reduced transducer current amplitude and sensitivity; conditional postnatal loss causes loss of tip-links and dramatic stereocilia shortening in short- and middle-row stereocilia, indicating SANS positively regulates F-actin polymerization. SANS interacts in vitro with cytoplasmic domains of cadherin-23 and protocadherin-15, and is absent from hair bundles in mice defective for either cadherin. Ush1g−/− knockout mice, conditional Ush1g(fl/fl)Myo15-cre mice, in vitro protein interaction assays, electrophysiology, immunolocalization Proceedings of the National Academy of Sciences of the United States of America High 21436032
2011 SANS directly binds myomegalin (PDE4DIP/PDEIIP), a Golgi-associated protein, via the central domain (CENT) of SANS; the SANS-myomegalin complex co-localizes with microtubules in photoreceptor cells, implicating SANS in microtubule-dependent inner segment cargo transport toward the ciliary base. Yeast two-hybrid screen, independent in vitro binding assays, immunohistochemistry, correlative electron microscopy Biochimica et biophysica acta Medium 21767579
2011 Sans localizes to stereocilia tips in wild-type mouse cochlear hair cells; in Ush1c−/− knockout mice, Sans is mislocalized toward the base of stereocilia near the cuticular plate, demonstrating that harmonin (USH1C) is required for proper subcellular localization of SANS within the USH1 network. Immunolocalization in Ush1c knockout mice cochlear sections and whole mount preparations International journal of experimental pathology Medium 21156003
2014 Phosphorylation of an internal PDZ-binding motif in the SAM domain of SANS by protein kinase CK2 regulates assembly of the SANS-Magi2 complex; phosphorylated SANS regulates Magi2-mediated clathrin-dependent endocytosis, which in turn controls aspects of ciliogenesis and periciliary membrane homeostasis in photoreceptor cells. RNAi knockdown, phosphorylation assays, co-immunoprecipitation, immunofluorescence, functional endocytosis assays, ciliogenesis readout Human molecular genetics High 24608321
2016 Genetic epistasis in mice shows that heterozygous Ush1g mutation combined with heterozygous Cdh23 mutation causes progressive hearing loss and stereocilia degeneration, while either heterozygous mutation alone does not, establishing that SANS and CDH23 interact functionally in stereocilia maintenance. Classical genetic analysis, CRISPR/Cas9-mediated Cdh23 knock-in, audiometry, stereocilia morphology analysis in double-heterozygous mice Human molecular genetics High 26936824
2017 SANS directly interacts with ush2a (USH2A transmembrane protein) and together with whirlin (USH2D) they form a ternary USH1/USH2 complex in the periciliary region, inner segment, and synapses of photoreceptor cells; pathogenic USH1G mutations severely impair this complex formation, and translational read-through drug treatment of a SANS nonsense mutation restored SANS scaffold function. Protein-protein interaction assays, co-expression studies, immunohistochemistry, proximity ligation assays, pharmacological read-through treatment Human molecular genetics High 28137943
2018 Glutathionylation of Ush1c (harmonin) promotes its interaction with Ush1ga (Sans/SANS), and the deglutathionylating enzyme GRXCR1 disrupts this specific physical interaction, thereby dynamically regulating hair bundle morphogenesis; GRXCR1 does not affect the Ush1c-Cadherin23-Myosin7aa tripartite complex. In vitro glutathionylation assays, zebrafish grxcr1 mutants, hair bundle morphology analysis, interaction assays Cell reports High 30380418
2019 SANS directly binds IFT complex B proteins IFT52 and IFT57 via its N-terminal ankyrin repeats and central domain; SANS co-localizes with IFT20, IFT52, and IFT57 at the ciliary base of photoreceptor cells; SANS knockout mice show decreased IFT levels in the ciliary compartment, demonstrating a role for SANS in proper positioning of IFT-B molecules in primary cilia. Yeast two-hybrid assay, in vitro binding assays, membrane targeting assays, quantitative immunofluorescence, SANS knockout mouse analysis Frontiers in cell and developmental biology High 31637240
2019 The MYO7A/USH1C/USH1G (SANS) tripartite complex undergoes liquid-liquid phase separation in cells, forming dense condensates; this phase separation requires strong multivalent interactions among the three proteins. Usher syndrome patient mutations in MYO7A weaken or disrupt multivalent interactions and impair condensate formation, suggesting tip-link densities form via phase separation. In vitro phase separation assay, cell transfection condensate formation, mutant protein analysis Cell reports High 31644917
2021 SANS localizes to Cajal bodies and nuclear speckles in the nucleus, where it interacts with spliceosomal components SF3B1, the splicing cofactor SON, PRPFs, and snRNAs of the tri-snRNP complex; SANS is required for transfer of tri-snRNPs between Cajal bodies and nuclear speckles for spliceosome assembly. SANS depletion leads to accumulation of spliceosomal complex A, and USH1G pathogenic mutations affect splicing of genes related to cell proliferation and Usher syndrome. Immunolocalization, co-immunoprecipitation, RNAi depletion, splicing complex analysis, RNA-seq Nucleic acids research High 34023904
2023 SANS directly binds spliceosomal proteins PRPF31 and PRPF6 via two distinct conserved regions of its CENTn domain; binding occurs sequentially, and binding of PRPF6 triggers a conformational change from an intrinsically disordered region to a short α-helix in SANS CENTn2. Pathogenic USH1G/SANS variants perturb binding to both PRPFs. FRET assays in cells, in silico deep learning-based protein structure predictions, mutagenesis International journal of molecular sciences Medium 38139438
2009 Drosophila Sans (ortholog of human USH1G SANS) localizes to early endosomes (associated with syntaxin Avalanche) in follicle cells, consistent with a conserved role for SANS in vesicle/endosomal trafficking. Immunolocalization, mutant analysis in Drosophila follicle cells PloS one Medium 19270738

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Human molecular genetics 228 12588794
2011 Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proceedings of the National Academy of Sciences of the United States of America 163 21709241
2007 The aryl hydrocarbon receptor sans xenobiotics: endogenous function in genetic model systems. Molecular pharmacology 129 17535977
2011 Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proceedings of the National Academy of Sciences of the United States of America 127 21436032
2003 Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Human molecular genetics 94 12588793
2008 Second-line antiretroviral therapy in resource-limited settings: the experience of Médecins Sans Frontières. AIDS (London, England) 91 18580610
1988 Genetic evidence that the sans fille locus is involved in Drosophila sex determination. Genetics 88 3220249
2005 Polyelectrolyte-protein complexes: structure and conformation of each specie revealed by SANS. Langmuir : the ACS journal of surfaces and colloids 71 16207052
2008 Radio frequency-driven recoupling at high magic-angle spinning frequencies: homonuclear recoupling sans heteronuclear decoupling. The Journal of chemical physics 62 18266438
2020 Structure and dynamics of a nanodisc by integrating NMR, SAXS and SANS experiments with molecular dynamics simulations. eLife 55 32729831
2017 Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. Human molecular genetics 47 28137943
2002 A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Human genetics 46 11941484
2011 Rodlike complexes of a polyelectrolyte (hyaluronan) and a protein (lysozyme) observed by SANS. Biomacromolecules 44 21381699
2010 Structure of the K-turn U4 RNA: a combined NMR and SANS study. Nucleic acids research 44 20466811
2003 Determination of asymmetric structure of ganglioside-DPPC mixed vesicle using SANS, SAXS, and DLS. Biophysical journal 43 12944276
2000 TAC, a TBP-sans-TAFs complex containing the unprocessed TFIIAalphabeta precursor and the TFIIAgamma subunit. Molecular cell 40 11030333
2018 Introducing SEC-SANS for studies of complex self-organized biological systems. Acta crystallographica. Section D, Structural biology 39 30605132
2011 Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochimica et biophysica acta 38 21767579
2009 Aldosterone and long-term outcome after myocardial infarction: A substudy of the french nationwide Observatoire sur la Prise en charge hospitalière, l'Evolution à un an et les caRactéristiques de patients présentant un infArctus du myocarde avec ou sans onde Q (OPERA) study. American heart journal 37 19332195
2016 SAXS/SANS on Supercharged Proteins Reveals Residue-Specific Modifications of the Hydration Shell. Biophysical journal 36 27224484
2004 Effect of cholesterol on the bilayer thickness in unilamellar extruded DLPC and DOPC liposomes: SANS contrast variation study. General physiology and biophysics 36 15270132
2006 Charge stoichiometry inside polyelectrolyte-protein complexes: a direct SANS measurement for the PSSNa-lysozyme system. The journal of physical chemistry. B 35 17149903
2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. Journal of molecular medicine (Berlin, Germany) 34 16283141
2019 Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. Cell reports 33 31644917
2006 Combining small angle neutron scattering (SANS) and fluorescence correlation spectroscopy (FCS) measurements to relate diffusion in agarose gels to structure. The journal of physical chemistry. B 32 17034188
1988 SANS studies of interacting hemoglobin in intact erythrocytes. Biophysical journal 32 2829985
2007 SANS (USH1G) expression in developing and mature mammalian retina. Vision research 30 17923142
2006 Cytomegalovirus-associated cutaneous vasculopathy and scleroderma sans inclusion body change. Human pathology 30 17084440
2005 Conformational changes in single-strand DNA as a function of temperature by SANS. Biophysical journal 30 16258042
2019 Methanol Accelerates DMPC Flip-Flop and Transfer: A SANS Study on Lipid Dynamics. Biophysical journal 27 30777306
2008 Hydrophobic thickness, lipid surface area and polar region hydration in monounsaturated diacylphosphatidylcholine bilayers: SANS study of effects of cholesterol and beta-sitosterol in unilamellar vesicles. Biochimica et biophysica acta 25 18782557
2008 Protein structure and hydration probed by SANS and osmotic stress. Biophysical journal 24 18178651
2017 Structural and Thermodynamic Properties of Nanoparticle-Protein Complexes: A Combined SAXS and SANS Study. Langmuir : the ACS journal of surfaces and colloids 23 28170272
2014 Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. Human molecular genetics 23 24608321
2012 Morindone, an anthraquinone, intercalates DNA sans toxicity: a spectroscopic and molecular modeling perspective. Applied biochemistry and biotechnology 23 22639367
2008 SANS/SAXS study of the BSA solvation properties in aqueous urea solutions via a global fit approach. European biophysics journal : EBJ 23 18365187
2007 Small-angle scattering and its interplay with crystallography, contrast variation in SAXS and SANS. Acta crystallographica. Section A, Foundations of crystallography 23 18156683
2017 Rapid contrast matching by microfluidic SANS. Lab on a chip 22 28379253
2015 Conformation of the Poly(ethylene Glycol) Chains in DiPEGylated Hemoglobin Specifically Probed by SANS: Correlation with PEG Length and in Vivo Efficiency. Langmuir : the ACS journal of surfaces and colloids 22 26153251
2011 SANS and UV-vis spectroscopy studies of resultant structure from lysozyme adsorption on silica nanoparticles. Langmuir : the ACS journal of surfaces and colloids 22 21707044
2017 Contrast-Matched Isotropic Bicelles: A Versatile Tool to Specifically Probe the Solution Structure of Peripheral Membrane Proteins Using SANS. Langmuir : the ACS journal of surfaces and colloids 21 28581294
2016 Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. Human molecular genetics 21 26936824
2018 Soybean oleosomes studied by small angle neutron scattering (SANS). Journal of colloid and interface science 20 29894938
2016 Structural Evolution of Metastable Protein Aggregates in the Presence of Trivalent Salt Studied by (V)SANS and SAXS. The journal of physical chemistry. B 20 27285548
2018 Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC medical genetics 19 30029624
2015 Effect of sodium salicylate and sodium deoxycholate on fibrillation of bovine serum albumin: comparison of fluorescence, SANS and DLS techniques. Physical chemistry chemical physics : PCCP 19 26006778
2008 New insights into urea action on proteins: a SANS study of the lysozyme case. The journal of physical chemistry. B 19 18811187
2012 Numerical validation of IFT in the analysis of protein-surfactant complexes with SAXS and SANS. Langmuir : the ACS journal of surfaces and colloids 18 22861495
2021 SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. Nucleic acids research 17 34023904
2015 Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. Ear and hearing 16 25255398
2009 Live longer sans the AT1A receptor. Cell metabolism 16 19416709
2005 SANS study of the interactions among DNA, a cationic surfactant, and polystyrene latex particles. Langmuir : the ACS journal of surfaces and colloids 16 15807604
2017 Applications of SANS to Study Membrane Protein Systems. Advances in experimental medicine and biology 15 29218561
2013 FTIR, ESI-MS, VT-NMR and SANS study of trehalose thermal stabilization of lysozyme. International journal of biological macromolecules 15 24291767
1996 Small angle neutron scattering from lysozyme solutions in unsaturated and supersaturated states (SANS from lysozyme solutions). Biophysical chemistry 15 17023362
1991 Consanguinity sans reproche. Human genetics 15 1997385
2013 Structure determination of functional membrane proteins using small-angle neutron scattering (sans) with small, mixed-lipid liposomes: native beef heart mitochondrial cytochrome c oxidase forms dimers. The protein journal 14 23143018
1994 Immunodeficiency viruses. Not enough sans Nef. Current biology : CB 14 7953537
2018 Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. Cell reports 13 30380418
2012 SANS: high-throughput retrieval of protein sequences allowing 50% mismatches. Bioinformatics (Oxford, England) 13 22962464
2009 Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. PloS one 13 19270738
2003 Analytical model for determination of parameters of helical structures in solution by small angle scattering: comparison of RecA structures by SANS. FEBS letters 12 12606054
2022 Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. Investigative ophthalmology & visual science 11 36227606
2019 SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins. Frontiers in cell and developmental biology 11 31637240
2007 Wide scale range structure in polyelectrolyte-protein dense complexes: where Sans meets freeze-fracture microscopy. The journal of physical chemistry. B 11 17555341
2021 SANS quantification of bound water in water-soluble polymers across multiple concentration regimes. Soft matter 10 34013304
2019 Self-Assembly of a Midblock-Sulfonated Pentablock Copolymer in Mixed Organic Solvents: A Combined SAXS and SANS Analysis. Langmuir : the ACS journal of surfaces and colloids 10 30609374
2019 Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. European journal of ophthalmology 10 31566003
2014 High-pressure SANS and fluorescence unfolding study of calmodulin. Biochimica et biophysica acta 10 24862246
2012 USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Molecular vision 10 22876113
2010 Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. International journal of experimental pathology 10 21156003
2006 Chemical reaction at specific sites and reaction-induced self-assembly as observed by in situ and real time SANS: enzymatic polymerization to synthetic cellulose. Biomacromolecules 10 16961307
2006 Gliadin characterization by SANS and gliadin nanoparticle growth modelization. Journal of nanoscience and nanotechnology 10 17048533
2005 Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 10 16371805
2020 Interdomain Flexibility within NADPH Oxidase Suggested by SANS Using LMNG Stealth Carrier. Biophysical journal 9 32668232
2014 The solution structure of full-length dodecameric MCM by SANS and molecular modeling. Proteins 9 24810534
2014 Effect of iron oxide loading on magnetoferritin structure in solution as revealed by SAXS and SANS. Colloids and surfaces. B, Biointerfaces 9 25249246
2011 Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Molecular vision 9 22219650
2007 Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. Ophthalmic genetics 9 17896313
2004 Cloning, function, and expression of sanS: a gene essential for nikkomycin biosynthesis of Streptomyces ansochromogenes. Current microbiology 9 15297918
2021 Interpenetrated biosurfactant-silk fibroin networks - a SANS study. Soft matter 8 33480918
2019 SANS partial structure factor analysis for determining protein-polymer interactions in semidilute solution. Soft matter 8 31468047
2023 Upgraded D22 SEC-SANS setup dedicated to the biology community. Journal of applied crystallography 7 37555207
2016 SIRB, sans iron oxide rhodamine B, a novel cross-linked dextran nanoparticle, labels human neuroprogenitor and SH-SY5Y neuroblastoma cells and serves as a USPIO cell labeling control. Contrast media & molecular imaging 7 26809657
2016 Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data. Frontiers in genetics 7 27200085
2013 E6 protein of human papillomavirus 16 (HPV16) expressed in Escherichia coli sans a stretch of hydrophobic amino acids, enables purification of GST-ΔE6 in the soluble form and retains the binding ability to p53. Protein expression and purification 7 24012792
2012 Use of SANS and biophysical techniques to reveal subtle conformational differences between native apo-calmodulin and its unfolded states. Biochimica et biophysica acta 6 22709575
2025 Integration of network pharmacology and untargeted metabolomics reveals Changpu San's antidepressant mechanisms via tryptophan metabolism. Journal of ethnopharmacology 5 40064322
2023 Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. International journal of molecular sciences 5 38139438
2022 Time-resolved small-angle neutron scattering (TR-SANS) for structural biology of dynamic systems: Principles, recent developments, and practical guidelines. Methods in enzymology 5 36410952
2022 Deuteration for biological SANS: Case studies, success and challenges in chemistry and biology. Methods in enzymology 5 36410963
2011 San1-mediated quality control: substrate recognition "sans" chaperones. Molecular cell 5 21211716
2007 EEC syndrome sans clefting: variable clinical presentations in a family. Indian journal of dermatology, venereology and leprology 5 17314449
2025 SANS investigation of fungal loosenins reveals substrate-dependent impacts of protein action on the inter-microfibril arrangement of cellulosic substrates. Biotechnology for biofuels and bioproducts 4 40022179
2023 Temperature-induced DNA density transition in phage λ capsid revealed with contrast-matching SANS. Proceedings of the National Academy of Sciences of the United States of America 4 37903276
2022 Combining NMR, SAXS and SANS to characterize the structure and dynamics of protein complexes. Methods in enzymology 4 36641211
2021 Conformation of Myoglobin-Poly(Ethyl Ethylene Phosphate) Conjugates Probed by SANS: Correlation with Polymer Grafting Density and Interaction. Macromolecular bioscience 4 33393176
2025 Network pharmacology-guided lipidomics and molecular docking reveals the involvement of sphingolipid metabolism and HIF-1 signaling in Xiaoyao San's blood-nourishing mechanism against depression. Journal of ethnopharmacology 3 40912487
2023 Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype. Genes, brain, and behavior 3 37328946
2020 Modeling a potential SANS countermeasure by experimental manipulation of the translaminar pressure difference in mice. NPJ microgravity 3 32821777