STRC

Summary

Gene Symbol: STRC
Description: stereocilin
Alias: DFNB16, stereocilin
Species: human

Top Publications

  1. ncbi Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
    E Verpy
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Nat Genet 29:345-9. 2001
  2. pmc The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
    Celia Zazo Seco
    Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet . 2016
  3. doi Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion
    Deepika Jaiswal
    Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India
    Gene 542:263-5. 2014
  4. doi Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
    X Gu
    Department of Otolaryngology, Hearing Research Institute, Affiliated Eye and ENT Hospital, Fudan University, Shanghai, China
    Clin Genet 87:588-93. 2015
  5. pmc Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
    Guney Bademci
    1 John P Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
    Genet Test Mol Biomarkers 18:658-61. 2014
  6. pmc Characterization of transcriptomes of cochlear inner and outer hair cells
    Huizhan Liu
    Neuroscience Center, Ningbo University School of Medicine, Ningbo 315211, China, and Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, Nebraska 68178
    J Neurosci 34:11085-95. 2014
  7. doi Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology
    Diana Mandelker
    Department of Pathology, Harvard Medical School, Brigham and Women s Hospital, Boston, Massachusetts
    J Mol Diagn 16:639-47. 2014
  8. pmc Differential expression and clinical significance of glioblastoma mRNA expression profiles in Uyghur and Han patients in Xinjiang province
    Liang Liu
    Department of Neurosurgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China mainland
    Med Sci Monit 20:2404-13. 2014
  9. pmc DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
    B Vona
    Institute of Human Genetics, Julius Maximilians University, Wurzburg, Germany
    Clin Genet 87:49-55. 2015
  10. doi Chronic methamphetamine regulates the expression of MicroRNAs and putative target genes in the nucleus accumbens of mice
    Li Zhu
    College of Forensic Medicine, Xi an Jiaotong University Health Science Center, Xi an, Shaanxi, People s Republic of China
    J Neurosci Res 93:1600-10. 2015

Scientific Experts

  • Sachin S Talathi
  • Nicole Hoppman
  • Leonard D Shultz
  • Thorsten Wolf
  • Luca Jovine
  • Sorinel Adrian Oprisan
  • Elisabeth Verpy
  • Jana Michalová
  • Harry Taber
  • Kent Christopherson
  • Richard J H Smith
  • Borum Sagong
  • Hideaki Moteki
  • Manou Sommen
  • Celia Zazo Seco
  • X Gu
  • B Vona
  • Li Zhu
  • Maria Bitner-Glindzicz
  • Diana Mandelker
  • Deepika Jaiswal
  • Guney Bademci
  • Liang Liu
  • Huizhan Liu
  • Erika Yeh
  • Heidi L Rehm
  • Paul H Miller
  • Byung Yoon Choi
  • John D Kirwan
  • Lauren J Francey
  • Connie J Eaves
  • Manfred Schmidt
  • Claudia R Ball
  • Christof von Kalle
  • Hanno Glimm
  • Oksana Zavidij
  • Sylvia Fessler
  • Marlene Tacke
  • J Knijnenburg
  • Oliver Christ
  • Yuzhou Zhang
  • Dmitri D Pervouchine
  • Yukihide Maeda
  • Suzanna Gm Frints
  • Els K Vanhoutte
  • Helger G Yntema
  • Tobias Moser
  • Marieke F van Dooren
  • Ronald Je Pennings
  • Kathleen Claes
  • Margriet Verstreken
  • Lies Hoefsloot
  • Els De Leenheer
  • Guy Van Camp
  • Jinwoong Bok
  • Christina M Sloan-Heggen
  • Kevin Booth
  • Henricus Pm Kunst
  • Keiko Wakui
  • Jenneke van den Ende
  • An Boudewyns
  • Friederike Predöhl
  • Ilse Feenstra
  • Hans Scheffer
  • Sandra Janssens
  • Pia Am de Koning Gans
  • Shin ichi Usami
  • Ronald Jc Admiraal
  • Nicola Strenzke
  • Diana L Kolbe
  • Saskia M Maas
  • Marie José H van den Boogaard
  • Nele Boeckx
  • Geert Vandeweyer
  • Margit Schraders
  • Yoshimitsu Fukushima
  • Ilse J de Wijs
  • Un Kyung Kim
  • Christa M de Geus
  • Kyu Yup Lee
  • Jason J Corneveaux
  • Rolph Pfundt
  • Geert Mortier
  • Yoh Ichiro Iwasa
  • Shin ya Nishio
  • Jiddeke M van de Kamp
  • Astrid S Plomp
  • Matthew J Huentelman
  • Wim Wuyts
  • A Eliot Shearer

Detail Information

Publications41

  1. ncbi Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
    E Verpy
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Nat Genet 29:345-9. 2001
    ..Genomic analysis shows that the human ortholog STRC (so called owing to the name we have given its protein-stereocilin), which is located on chromosome 15q15, contains 29 exons encompassing approximately 19 kb...
  2. pmc The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
    Celia Zazo Seco
    Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet . 2016
    ..5%). Eight of these patients have a large homozygous deletion involving STRC, OTOA or USH2A, which could only be identified by copy number variation detection...
  3. doi Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion
    Deepika Jaiswal
    Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India
    Gene 542:263-5. 2014
    ..CMA specific results showed a common deletion in the 15q15.3 region that harbors genes like CATSPER2, STRC and PPIP5K1 in both cases (M18 and M19). In addition we identified small duplication in X and 11 chromosomes of M19...
  4. doi Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
    X Gu
    Department of Otolaryngology, Hearing Research Institute, Affiliated Eye and ENT Hospital, Fudan University, Shanghai, China
    Clin Genet 87:588-93. 2015
    ..Norcross, GA). We identified 14 pathogenic variants in STRC, CATSPER2, USH2A, TRIOBP, MYO15A, GPR98, and TMPRSS3 genes in eight patients (diagnostic rate = 12.7%)...
  5. pmc Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
    Guney Bademci
    1 John P Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida
    Genet Test Mol Biomarkers 18:658-61. 2014
    ..We detected large homozygous deletions in STRC and OTOA in single families. Thus, causative CNVs in known deafness genes explain 2 out of 78 (2...
  6. pmc Characterization of transcriptomes of cochlear inner and outer hair cells
    Huizhan Liu
    Neuroscience Center, Ningbo University School of Medicine, Ningbo 315211, China, and Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, Nebraska 68178
    J Neurosci 34:11085-95. 2014
    ..Slc17a8, Dnajc5b, Slc1a3, Atp2a3, Osbpl6, Slc7a14, Bcl2, Bin1, Prkd1, and Map4k4 in IHCs and Slc26a5, C1ql1, Strc, Dnm3, Plbd1, Lbh, Olfm1, Plce1, Tectb, and Ankrd22 in OHCs...
  7. doi Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology
    Diana Mandelker
    Department of Pathology, Harvard Medical School, Brigham and Women s Hospital, Boston, Massachusetts
    J Mol Diagn 16:639-47. 2014
    ..An example is the STRC gene, one of >70 genes known to contribute to the genetic basis of hearing loss. STRC is 99...
  8. pmc Differential expression and clinical significance of glioblastoma mRNA expression profiles in Uyghur and Han patients in Xinjiang province
    Liang Liu
    Department of Neurosurgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China mainland
    Med Sci Monit 20:2404-13. 2014
    ....
  9. pmc DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
    B Vona
    Institute of Human Genetics, Julius Maximilians University, Wurzburg, Germany
    Clin Genet 87:49-55. 2015
    Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A major challenge is due to a closely linked pseudogene with 99.6% coding sequence identity...
  10. doi Chronic methamphetamine regulates the expression of MicroRNAs and putative target genes in the nucleus accumbens of mice
    Li Zhu
    College of Forensic Medicine, Xi an Jiaotong University Health Science Center, Xi an, Shaanxi, People s Republic of China
    J Neurosci Res 93:1600-10. 2015
    ..expression profile, revealing eight putative METH-regulated target genes (Arc, Capn9, Gbp5, Lefty1, Patl2, Pde4c, Strc, and Vmn1r58)...
  11. doi Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss
    Borum Sagong
    Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea
    Int J Pediatr Otorhinolaryngol 80:78-81. 2016
    ..650G>A in TRIOBP and c.4057C>T in STRC). These variants were selected for further analysis. Among these, c.4057C>T (p...
  12. doi DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
    Manou Sommen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 37:812-9. 2016
    ..1%). CNV analysis resulted in the identification of causative variants in two patients in OTOA and STRC. One of the major challenges for diagnostic gene panels is assigning pathogenicity for variants...
  13. ncbi Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
    Hideaki Moteki
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospital and Clinics, Iowa, USA
    Ann Otol Rhinol Laryngol 125:918-923. 2016
    ..3 and causally related to autosomal recessive non-syndromic hearing loss (ARNSHL) at the DFNB16 locus...
  14. ncbi RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explants
    Yukihide Maeda
    Molecular Otolaryngology Research Laboratory, Department of Otolaryngology, The University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Neuroreport 16:361-5. 2005
    Tecta, Coch, Eya4 and Strc are mouse orthologs of four human deafness-associated genes. Their expression is markedly restricted to specific cell types in cochleae. Cochleae were dissected on embryonic day 15 and cultured in vitro...
  15. pmc Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss
    Byung Yoon Choi
    Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, Korea
    PLoS ONE 8:e68692. 2013
    ..by the targeted resequencing were distributed in nine genes such as WFS1, COCH, EYA4, MYO6, GJB3, COL11A2, OTOF, STRC and MYO3A, most of which were private...
  16. pmc A phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammals
    John D Kirwan
    UCD School of Biology and Environmental Science and UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin Dublin, Ireland
    Evol Appl 6:412-22. 2013
    ..Using cross-species comparisons of 11 'deafness' genes (Myo15, Ush1 g, Strc, Tecta, Tectb, Otog, Col11a2, Gjb2, Cldn14, Kcnq4, Pou3f4) across 69 evolutionary and ecologically divergent ..
  17. pmc Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
    Nicole Hoppman
    Department of Laboratory Medicine and Pathology, Mayo Clinic, 971 Hilton, 200 1st St SW, Rochester, MN, 55905, USA
    Mol Cytogenet 6:19. 2013
    ..Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. Females with DIS have only hearing loss and are fertile...
  18. pmc Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome
    Erika Yeh
    Human Genome Center, Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Sao Paulo, SP, Brazil
    PLoS ONE 8:e60439. 2013
    ..Strikingly, we validated Strc (stereocilin) in newborn Fgfr2(S252W/+) mouse brain...
  19. doi Enhanced normal short-term human myelopoiesis in mice engineered to express human-specific myeloid growth factors
    Paul H Miller
    Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada
    Blood 121:e1-4. 2013
    ..were heterogeneously distributed, validating the blood as a more representative measure of transplanted STRC activity...
  20. pmc Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
    Lauren J Francey
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:298-308. 2012
    ..After identifying 8 mild-moderate NBSNHI probands with a Chr15q15.3 deletion encompassing the Stereocilin (STRC) gene amongst this cohort, sequencing of STRC was undertaken in these probands as well as 50 probands and ..
  21. doi Hematopoietic activity of human short-term repopulating cells in mobilized peripheral blood cell transplants is restricted to the first 5 months after transplantation
    Oksana Zavidij
    Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center, Heidelberg, Germany
    Blood 115:5023-5. 2010
    ..durability and lineage contribution of STRCs, we compared repopulation kinetics of mobilized peripheral blood (high STRC content) with cord blood transplants (low STRC content) in long-lived NOD...
  22. ncbi Improved purification of hematopoietic stem cells based on their elevated aldehyde dehydrogenase activity
    Oliver Christ
    Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC, Canada
    Haematologica 92:1165-72. 2007
    ....
  23. pmc A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22
    D A Campbell
    Molecular Medicine Unit, St James s University Hospital, Leeds, UK
    J Med Genet 34:1015-7. 1997
    ..We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East...
  24. pmc Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132
    M Villamar
    Am J Hum Genet 64:1238-41. 1999
  25. pmc Previously undetected human hematopoietic cell populations with short-term repopulating activity selectively engraft NOD/SCID-beta2 microglobulin-null mice
    H Glimm
    Terry Fox Laboratory, British Columbia Cancer Agency, and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    J Clin Invest 107:199-206. 2001
    ..myeloid-restricted STRCs were preferentially amplified (greater than tenfold) and, interestingly, both types of STRC were found to be selectively elevated in mobilized peripheral blood harvests...
  26. ncbi Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
    M Mangino
    CSS Mendel Institute, IRCCS, Rome, Italy
    Eur J Hum Genet 9:667-71. 2001
    ..This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus...
  27. ncbi Hereditary deafness and phenotyping in humans
    Maria Bitner-Glindzicz
    Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK
    Br Med Bull 63:73-94. 2002
    ..Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated ..
  28. pmc Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear
    Luca Jovine
    Brookdale Department of Molecular, Cell and Developmental Biology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    BMC Cell Biol 3:28. 2002
    ..Recently, otoancorin was suggested to be a mediator of gel attachment to nonsensory cells, but the molecular components of the interface between gels and sensory cells remain to be identified...
  29. ncbi Regulation of human short-term repopulating cell (STRC) engraftment in NOD/SCID mice by host CD122+ cells
    Leonard D Shultz
    The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA
    Exp Hematol 31:551-8. 2003
    ..A previously unrecognized HSC in cord blood, termed short-term repopulating cell (STRC), has been identified using NOD/SCID B2m(null) mice...
  30. ncbi Low-dimensional maps encoding dynamics in entorhinal cortex and hippocampus
    Dmitri D Pervouchine
    Department of Mathematics and Statistics and Center for BioDynamics, Boston University, Boston, MA 02215, USA
    Neural Comput 18:2617-50. 2006
    ..We use spike time response curve methods (STRC), expanding that technique to three-cell networks and giving two different ways in which the analysis of the three-..
  31. pmc Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
    Yuzhou Zhang
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52240, USA
    J Med Genet 44:233-40. 2007
    ..Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3...
  32. doi Hematopoietic stem cells survive circulation arrest and reconstitute hematopoiesis in myeloablated mice
    Jana Michalová
    Center of Experimental Hematology and Institute of Pathological Physiology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
    Biol Blood Marrow Transplant 17:1273-81. 2011
    ..a higher sensitivity of proliferating hematopoietic progenitors to ischemia compared to repopulating cells (STRC and LTRC)...
  33. doi The hen's egg test for micronucleus induction (HET-MN): novel analyses with a series of well-characterized substances support the further evaluation of the test system
    Thorsten Wolf
    Universitat Osnabruck, Fb8, Pharmakologie und Toxikologie, Albrechtstr 28, Osnabruck, Germany
    Mutat Res 650:150-64. 2008
    ..Negative results were obtained for azorubin (E122), orange G (OG) and starch (STRC)...
  34. doi Spike timing dependent plasticity promotes synchrony of inhibitory networks in the presence of heterogeneity
    Sachin S Talathi
    J Crayton Pruitt Family Department of Biomedical Engineering, University of Florida, Gainesville, FL 32611, USA
    J Comput Neurosci 25:262-81. 2008
    ..Using the method of spike time response curve (STRC), we show how iSTDP influences the dynamics of the coupled neurons, such that the pair synchronizes under ..
  35. doi A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
    J Knijnenburg
    Department of Molecular Cell Biology, zone S 1 P, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    J Med Genet 46:412-7. 2009
    ..The impact on disease of CNVs in the homozygous state may thus remain undetected and underestimated...
  36. doi The inherent differentiation program of short-term hematopoietic repopulating cells changes during human ontogeny
    Marlene Tacke
    Institute of Molecular Medicine and Cell Research, Albert Ludwigs University, Freiburg, Germany
    Stem Cells Dev 19:621-8. 2010
    ..Compared to adult sources of hematopoietic cells, CB myeloidrestricted STRC-M showed a markedly reduced megakaryocytic and erythroid cell output in the quantitative xenotransplantation of ..
  37. doi Existence and stability criteria for phase-locked modes in ring neural networks based on the spike time resetting curve method
    Sorinel Adrian Oprisan
    College of Charleston, Physics and Astronomy Department, 58 Coming Street, Room 101, Charleston, SC 29424, USA
    J Theor Biol 262:232-44. 2010
    ..phase-locked modes in ring neural networks of spiking neurons based on the open loop spike time resetting curve (STRC) and its almost equivalent counterpart-the phase resetting curve (PRC)...
  38. pmc Synchrony with shunting inhibition in a feedforward inhibitory network
    Sachin S Talathi
    J Crayton Pruitt Family Department of Biomedical Engineering, University of Florida, Gainesville, FL 32611, USA
    J Comput Neurosci 28:305-21. 2010
    ..in the presence of heterogeneity, we develop a general theoretical framework using spike time response curves (STRC's) to study patterns of synchrony in a simple network of two unidirectionally coupled interneurons (UCI network) ..
  39. pmc Structure and expression of the cytochrome aa3 regulatory gene ctaA of Bacillus subtilis
    J P Mueller
    Department of Microbiology and Immunology, Albany Medical College, New York 12208
    J Bacteriol 171:4979-86. 1989
    ..Postexponential expression was found to be dependent on the product of the strC gene. The expression of ctaA appears to be regulated in a growth stage-specific manner...
  40. pmc Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
    Elisabeth Verpy
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, Paris, France
    J Comp Neurol 519:194-210. 2011
    b>Stereocilin is defective in a recessive form of deafness, DFNB16...

Research Grants2

  1. Cytokine Induced CD26 Modulation of Adult Hematopoietic Stem Cell Trafficking
    Kent Christopherson; Fiscal Year: 2009
    ..mice 24 hours post transplant, and 2b) the engraftment of short term repopulating cells of myeloid restricted (STRC-M) and dual myeloid-lymphoid (STRC-ML) lineage as well as long term repopulating cells (LTRC) into NOD/SCID/B2mnull ..
  2. MOLECULAR GENETICS OF BACILLUS SUBTILIS CYTOCHROME AA3
    Harry Taber; Fiscal Year: 1993
    ..and high-resolution transcript mapping, and formation of gene fusions, a particular focus will be on the ctaA and strC gene products as possible transcriptional factors. The strC gene will be cloned for further study...