Affinage

USH1G

pre-mRNA splicing regulator USH1G · UniProt Q495M9

Length
461 aa
Mass
51.5 kDa
Annotated
2026-06-10
100 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

USH1G encodes SANS, a multidomain scaffold protein—built from N-terminal ankyrin repeats, a central (CENT) domain, a SAM domain, and a C-terminal PDZ-binding motif—that organizes the Usher syndrome (USH) protein networks at the apex of sensory hair cells and in photoreceptors, and whose loss-of-function mutations cause Usher syndrome type I (PMID:12588794, PMID:12588793). In the cochlea SANS localizes to the stereocilia tip-link region, where it directly binds the cytoplasmic domains of cadherin-23 and protocadherin-15 at the lower tip-link density and is required for tip-link integrity, transduction current, and stereocilia growth, thereby coupling mechanotransduction to F-actin polymerization (PMID:21436032); a genetic epistasis between Ush1g and Cdh23 rescued by CRISPR correction confirms this functional partnership in maintaining bundle integrity (PMID:26936824). SANS also assembles with MYO7A and harmonin (USH1C) into a tripartite complex at the upper tip-link density that undergoes liquid-liquid phase separation to build these high-density assemblies, with Usher-associated mutations weakening the multivalent interactions (PMID:21709241, PMID:31644917); its correct positioning depends on harmonin (PMID:21156003), and the SANS–harmonin interaction is tuned by GRXCR1-controlled glutathionylation (PMID:30380418). In photoreceptors SANS bridges the USH1 and USH2 networks through direct binding to ush2a and whirlin in periciliary regions (PMID:28137943), links the network to intraflagellar transport via N-terminal ankyrin-repeat binding to IFT-B proteins IFT52 and IFT57 (PMID:31637240), and regulates clathrin-dependent endocytosis and ciliogenesis through CK2-phosphorylation-dependent binding to Magi2 (PMID:24608321). Beyond its cytoplasmic scaffolding roles, SANS functions in the nucleus within Cajal bodies and nuclear speckles, where it interacts with spliceosomal components including PRPF31 and PRPF6 via its CENT domain and mediates transfer of tri-snRNP complexes for spliceosome assembly (PMID:34023904, PMID:38139438). Pathogenic USH1G mutations recurrently disrupt these scaffold interactions across compartments (PMID:24608321, PMID:28137943, PMID:38139438).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2003 High

    Establishing that SANS is a domain-organized scaffold whose mutations cause Usher syndrome type I framed the protein as a network organizer rather than an enzyme, and identified harmonin as its first binding partner.

    Evidence Positional cloning with BAC transgenic rescue, sequence/domain analysis, and co-transfection interaction assays in Jackson shaker mice

    PMID:12588793 PMID:12588794

    Open questions at the time
    • Did not resolve which subcellular compartments SANS organizes
    • Functional consequence of harmonin binding for hair bundle assembly not established
  2. 2005 Low

    An atypical-Usher PDZ-motif missense mutation tested whether the C-terminal motif is specifically required for harmonin binding.

    Evidence Homozygosity mapping, mutation analysis, and molecular modeling of the PDZ-motif interaction

    PMID:16283141

    Open questions at the time
    • Mechanistic impairment is computationally inferred, not biochemically demonstrated
    • No direct binding assay with the mutant protein
  3. 2007 Medium

    Mapping SANS to ciliary, synaptic, adhesion, and periciliary compartments of photoreceptors broadened its role beyond the cochlea to retinal USH networks.

    Evidence Subcellular fractionation and immunocytochemistry in developing and mature mouse retina

    PMID:17923142

    Open questions at the time
    • Localization alone did not define molecular partners in each compartment
    • Functional requirement at each site untested
  4. 2009 Medium

    The Drosophila Sans ortholog localizing to early endosomes raised an evolutionarily conserved trafficking function distinct from direct microvillar morphogenesis.

    Evidence Immunofluorescence co-localization with endosomal markers and loss-of-function analysis in Drosophila follicle cells

    PMID:19270738

    Open questions at the time
    • Relevance of endosomal role to mammalian hair cell/photoreceptor function unclear
    • Trafficking cargo not identified
  5. 2010 Medium

    Demonstrating that harmonin is required for correct SANS positioning ordered the USH1 network hierarchically within stereocilia.

    Evidence Immunofluorescence on cochlear whole mounts and sections from Ush1c-/- mice

    PMID:21156003

    Open questions at the time
    • Did not establish whether mispositioning alone drives hair bundle dysfunction
    • Single lab, single readout
  6. 2011 High

    Direct binding of SANS to cadherin-23 and protocadherin-15 plus conditional knockout phenotypes placed SANS at the lower tip-link density and linked mechanotransduction to actin-based stereocilia growth.

    Evidence In vitro binding assays, conditional Ush1g knockout, transduction-current electrophysiology, immunofluorescence and electron microscopy

    PMID:21436032

    Open questions at the time
    • How SANS mechanically couples the tip link to actin polymerization not resolved at molecular level
    • Stoichiometry at the lower density not quantified
  7. 2011 High

    Identification of a MYO7A/SANS/harmonin tripartite complex at the upper tip-link density, and a SANS–myomegalin complex at photoreceptor microtubules, defined SANS as a hub for multiple compartment-specific assemblies.

    Evidence Reciprocal co-transfection, GFP-tagged constructs and immunofluorescence in hair cells; yeast two-hybrid plus co-localization for myomegalin

    PMID:21709241 PMID:21767579

    Open questions at the time
    • Functional contribution of the SANS-myomegalin complex to cargo transport not directly tested
    • How the tripartite complex is spatially restricted to the UTLD unknown
  8. 2014 High

    Discovery of CK2-phosphorylation-dependent SANS–Magi2 binding connected SANS to clathrin-dependent endocytosis and ciliogenesis at the photoreceptor ciliary pocket.

    Evidence Co-IP, CK2 kinase assay, RNAi knockdown with ciliogenesis readout, in situ localization

    PMID:24608321

    Open questions at the time
    • Endocytic cargo regulated by the SANS-Magi2 complex not identified
    • Link between this endocytic role and hearing not established
  9. 2016 High

    Genetic epistasis with CRISPR rescue proved that SANS and CDH23 functionally interact in vivo to maintain stereocilia integrity, moving the binding observation to a causal genetic relationship.

    Evidence Classical genetics, CRISPR Cdh23 knock-in, auditory brainstem response, scanning electron microscopy

    PMID:26936824

    Open questions at the time
    • Molecular basis of the dosage sensitivity not detailed
    • Whether comparable epistasis operates in photoreceptors untested
  10. 2017 High

    SANS bridging USH1 and USH2 networks via direct ush2a and whirlin binding, with read-through rescue of a nonsense allele, unified the two Usher protein networks and demonstrated therapeutic restoration of scaffold function.

    Evidence Reciprocal interaction/co-expression assays, proximity ligation assay in rodent and human retina, read-through drug treatment

    PMID:28137943

    Open questions at the time
    • Physiological output of the USH1/USH2 ternary complex not measured
    • Whether read-through restores function in vivo unknown
  11. 2018 High

    GRXCR1-controlled glutathionylation toggling the SANS–harmonin interaction revealed a redox-based regulatory layer specific to that complex.

    Evidence Zebrafish grxcr1 mutants, in vitro glutathionylation/deglutathionylation binding and pull-down assays

    PMID:30380418

    Open questions at the time
    • Which cysteine residues are modified not pinpointed
    • Physiological trigger for redox switching during bundle morphogenesis unknown
  12. 2019 High

    Direct SANS binding to IFT-B proteins IFT52/IFT57 via ankyrin repeats, and LLPS of the MYO7A/USH1C/SANS complex, connected SANS to intraflagellar transport and explained how high-density tip-link structures self-assemble.

    Evidence Yeast two-hybrid and complementary binding assays plus knockout IFT quantification; in vitro and cellular phase-separation assays with disease mutations

    PMID:31637240 PMID:31644917

    Open questions at the time
    • Whether IFT cargo delivery depends on SANS in vivo beyond reduced IFT levels not shown
    • How phase separation is regulated spatially in stereocilia unclear
  13. 2021 High

    Finding nuclear SANS in Cajal bodies and speckles that mediates tri-snRNP transfer for spliceosome assembly revealed a wholly distinct nuclear function with splicing consequences for Usher-related genes.

    Evidence Co-IP with spliceosomal components, immunofluorescence, RNAi with spliceosome assembly assay, RNA-seq splicing analysis

    PMID:34023904

    Open questions at the time
    • How SANS partitions between cytoplasmic scaffold and nuclear splicing roles unknown
    • Contribution of the splicing defect to Usher pathology not isolated from cytoplasmic roles
  14. 2023 Medium

    Defining sequential PRPF31 then PRPF6 binding by the CENTn domain, with a disorder-to-helix transition, and characterizing a null mouse provided molecular and physiological detail to the nuclear and hair-bundle roles respectively.

    Evidence Cellular FRET assays with AlphaFold modeling and mutant binding; spontaneous null Ush1g mouse with ABR, vestibular-evoked potentials, electron microscopy and immunofluorescence

    PMID:37328946 PMID:38139438

    Open questions at the time
    • CENTn structural transition is computationally modeled and not experimentally resolved at atomic level
    • Kinocilial link role mechanism beyond morphology not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SANS is partitioned and coordinated across its mechanotransductive, ciliary-trafficking, endocytic, and nuclear-splicing roles, and which functions dominate Usher syndrome pathology, remains unresolved.
  • No unified model integrating cytoplasmic scaffold and nuclear splicing functions
  • Relative pathogenic contribution of each compartment-specific interaction not ranked
  • No high-resolution structure of full-length SANS

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 5 GO:0003723 RNA binding 1 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005856 cytoskeleton 3 GO:0005929 cilium 3 GO:0005654 nucleoplasm 1 GO:0005730 nucleolus 1 GO:0005768 endosome 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-9709957 Sensory Perception 3 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-5653656 Vesicle-mediated transport 1 R-HSA-8953854 Metabolism of RNA 1
Partners
CDH23IFT52MAGI2MYO7APCDH15PRPF31USH1CUSH2A
Complex memberships
MYO7A/USH1C/USH1G tip-link density complexSANS/USH2A/whirlin USH1-USH2 complextri-snRNP/spliceosomal complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 SANS (USH1G) protein associates with harmonin (USH1C) via its C-terminal PDZ-binding motif, demonstrated by co-transfection experiments; frameshift and missense mutations in SANS cause Usher syndrome type I. Co-transfection / co-expression assay; positional cloning with mutation analysis Human molecular genetics Medium 12588793 12588794
2003 SANS protein contains three ankyrin repeats, a SAM (sterile alpha motif) domain, and a C-terminal PDZ-binding motif; loss-of-function mutations causing truncation of the SAM domain result in disorganized cochlear hair bundle stereocilia in Jackson shaker mice. Positional cloning, BAC transgenic rescue, sequence analysis, immunofluorescence of cochlear hair cells Human molecular genetics High 12588793 12588794
2007 SANS localizes to the ciliary apparatus, ribbon synapses, outer limiting membrane cell-cell adhesions, and periciliary regions of mammalian photoreceptor cells, consistent with a scaffold role in USH protein networks at these subcellular compartments. Subcellular fractionation, tangential cryosections, immunocytochemistry with specific antibodies in developing and mature mouse retinas Vision research Medium 17923142
2009 Drosophila Sans ortholog localizes to early endosomes (marked by syntaxin Avalanche) in follicle cells, consistent with an evolutionarily conserved role in vesicle/endosomal trafficking, rather than directly in microvilli morphogenesis. Immunofluorescence co-localization with endosomal markers in Drosophila follicle cells; genetic loss-of-function analysis PloS one Medium 19270738
2011 SANS interacts directly with the cytoplasmic domains of cadherin-23 (USH1D) and protocadherin-15 (USH1F) in vitro; SANS localizes to the tips of short- and middle-row stereocilia (lower tip-link density) and is absent in mice lacking either cadherin, placing it at the lower end of the tip-link complex. Loss of SANS causes reduced transducer current amplitude, loss of tip-link integrity, and dramatic reduction in stereocilia length, linking mechanotransduction machinery to F-actin polymerization. In vitro binding assays, conditional knockout mice (Ush1g fl/fl; Myo15-cre), electrophysiology of transduction currents, immunofluorescence, electron microscopy Proceedings of the National Academy of Sciences of the United States of America High 21436032
2011 MYO7A (myosin VIIa), SANS, and harmonin-b form a tripartite complex at the upper tip-link density (UTLD); each protein can interact with the others independently; MYO7A and SANS co-localize at the UTLD by immunofluorescence and GFP-tagged constructs in hair cells, with ~8 or more MYO7A molecules per UTLD. Immunofluorescence in mouse cochlear hair cells, GFP-tagged constructs, co-transfection in heterologous system demonstrating tripartite complex Proceedings of the National Academy of Sciences of the United States of America High 21709241
2011 SANS directly interacts with myomegalin (PDE4DIP/MCIP) via its central domain (CENT); SANS and myomegalin co-localize at microtubules in photoreceptor inner segments, suggesting a role for the SANS-myomegalin complex in microtubule-dependent cargo transport toward the ciliary base. Yeast two-hybrid screen of retinal cDNA library, independent binding assays, co-immunolocalization by immunofluorescence and electron microscopy Biochimica et biophysica acta Medium 21767579
2010 SANS localization in cochlear hair cell stereocilia depends on harmonin (USH1C): in Ush1c-/- mice, SANS is mislocalized toward the base of stereocilia rather than its normal position, indicating that harmonin is required for correct SANS positioning within the USH1 protein network. Immunofluorescence on cochlear whole mounts and sections from Ush1c-/- knockout mice International journal of experimental pathology Medium 21156003
2014 SANS interacts with Magi2 (membrane-associated guanylate kinase inverted-2); this interaction is regulated by CK2-mediated phosphorylation of an internal PDZ-binding motif within the SAM domain of SANS. Phosphorylated SANS promotes Magi2-mediated, clathrin-dependent endocytosis, which in turn regulates ciliogenesis. The SANS-Magi2 complex localizes to the periciliary membrane complex at the ciliary pocket of photoreceptor cells; USH1G pathogenic mutations eliminate Magi2 binding. Co-IP, RNAi knockdown, kinase assay (CK2 phosphorylation), immunofluorescence, immunohistochemistry in situ Human molecular genetics High 24608321
2017 SANS (USH1G) directly interacts with ush2a (USH2A) and together with whirlin (USH2D) forms a ternary USH1/USH2 complex via mutual interactions; this complex is present in the periciliary region, inner segment, and synapses of rodent and human photoreceptor cells. Pathogenic USH1G mutations severely disrupt SANS/ush2a/whirlin complex formation; translational read-through drug treatment targeting a SANS nonsense mutation restored SANS scaffold function. Protein-protein interaction assays, co-expression assays, proximity ligation assay (PLA), immunohistochemistry in rodent and human retina, read-through drug treatment Human molecular genetics High 28137943
2018 Glutaredoxin GRXCR1 regulates hair bundle morphogenesis by destabilizing the physical interaction between Sans (USH1G/Ush1ga) and Harmonin (USH1C/Ush1c); glutathionylation promotes the Sans-Harmonin interaction, and Grxcr1 deglutathionylation prevents this specific interaction without affecting other USH1 complexes such as Ush1c-Cadherin23-Myosin7aa. Zebrafish grxcr1 mutant alleles, in vitro glutathionylation/deglutathionylation binding assays, pull-down 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; in SANS knockout mice, IFT protein levels at the ciliary compartment are reduced. Pathogenic mutations in the SANS N-terminus disrupt IFT-B binding, linking USH1G to intraflagellar transport. 1:1 yeast two-hybrid, in vitro complementary interaction assays, membrane targeting assay in cells, quantitative immunofluorescence in wild-type and SANS knockout mouse photoreceptors Frontiers in cell and developmental biology High 31637240
2019 MYO7A, USH1C, and USH1G (SANS) form a tripartite complex that undergoes liquid-liquid phase separation in cells and in vitro, potentially explaining the formation of high-density stereocilia tip-link density structures. Point mutations in MYO7A found in Usher syndrome patients weaken multivalent interactions within the MYO7A/USH1C/USH1G complex and impair phase separation. In vitro phase separation assay, cell transfection condensate assay, mutant protein binding assays Cell reports High 31644917
2021 SANS is present in the nucleus, specifically in Cajal bodies and nuclear speckles, where it interacts with spliceosomal components SF3B1, SON, PRPFs, and snRNAs of the tri-snRNP complex. SANS is required for transfer of tri-snRNPs from Cajal bodies to nuclear speckles for spliceosome assembly. SANS depletion causes accumulation of spliceosomal complex A and altered splicing of genes related to cell proliferation and Usher syndrome pathology. Co-immunoprecipitation with spliceosomal components, immunofluorescence in Cajal bodies/nuclear speckles, RNAi knockdown with spliceosome assembly assay, RNA-seq splicing analysis Nucleic acids research High 34023904
2023 SANS directly binds spliceosomal proteins PRPF31 and PRPF6 via two distinct conserved regions of its CENTn domain; binding is sequential, and PRPF6 binding triggers a conformational change in an intrinsically disordered region of SANS CENTn2 to a short alpha-helix. Pathogenic USH1G variants in the CENTn domain perturb binding to both PRPFs. FRET assays in cells, in silico deep learning-based protein structure prediction (AlphaFold), mutant protein interaction assays International journal of molecular sciences Medium 38139438
2016 Genetic epistasis between Ush1g and Cdh23: heterozygous Ush1g/Sans mutation alone causes early-onset progressive hearing loss in C57BL/6J mice only when combined with a strain-specific Cdh23 allele; CRISPR-mediated correction of the Cdh23 variant in double-heterozygous mice fully rescues the hearing loss and stereocilia degeneration, demonstrating that SANS and CDH23 functionally interact to maintain stereocilia integrity. Classical genetic analysis, CRISPR/Cas9 Cdh23 knock-in, auditory brainstem response, scanning electron microscopy of stereocilia Human molecular genetics High 26936824
2005 A D458V missense mutation at the -3 position of the SANS PDZ-binding motif causes atypical Usher syndrome; molecular modeling indicates this mutation impairs the interaction of SANS with harmonin, consistent with the PDZ-binding motif being required for harmonin binding. Homozygosity mapping, mutation analysis, molecular modeling of PDZ-motif interaction Journal of molecular medicine Low 16283141
2023 A spontaneous null allele of Ush1g (stop codon at amino acid 4) in mice produces disorganized and split hair bundles, absent auditory brainstem responses, absent vestibular-evoked potentials, altered distribution of stereocilia tip proteins, and kinocilium displacement, establishing USH1G as essential for kinocilial link formation and hair bundle organization. Spontaneous mutagenesis model, auditory brainstem response, vestibular-evoked potentials, scanning electron microscopy, immunofluorescence of stereocilia proteins Genes, brain, and behavior Medium 37328946

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 167 21709241
2007 The aryl hydrocarbon receptor sans xenobiotics: endogenous function in genetic model systems. Molecular pharmacology 130 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 128 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 57 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
2006 Charge stoichiometry inside polyelectrolyte-protein complexes: a direct SANS measurement for the PSSNa-lysozyme system. The journal of physical chemistry. B 36 17149903
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
2019 Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. Cell reports 34 31644917
2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. Journal of molecular medicine (Berlin, Germany) 34 16283141
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 31 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 28 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
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 22 26936824
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
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
2012 Numerical validation of IFT in the analysis of protein-surfactant complexes with SAXS and SANS. Langmuir : the ACS journal of surfaces and colloids 19 22861495
2008 New insights into urea action on proteins: a SANS study of the lysozyme case. The journal of physical chemistry. B 19 18811187
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
2021 SANS quantification of bound water in water-soluble polymers across multiple concentration regimes. Soft matter 11 34013304
2019 Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. European journal of ophthalmology 11 31566003
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
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
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
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
2019 SANS partial structure factor analysis for determining protein-polymer interactions in semidilute solution. Soft matter 9 31468047
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
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
2022 Deuteration for biological SANS: Case studies, success and challenges in chemistry and biology. Methods in enzymology 6 36410963
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
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
2025 Xiaoyao San's dual efficacy in NAFLD and depression: Unraveling the mechanisms via network pharmacology and multi-omics. Phytomedicine : international journal of phytotherapy and phytopharmacology 4 40945251
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
2018 B Cell Development sans B Cell Receptor Responsiveness Due to Unfolded Protein Response-Triggered Mef2c Protein Degradation. Journal of immunology (Baltimore, Md. : 1950) 3 30305329

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