Genomes and Genes
Gene Symbol: STRC
Alias: DFNB16, stereocilin
- Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locusE 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...
- The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia 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...
- Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletionDeepika 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...
- Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutationsX 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%)...
- Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing lossGuney 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...
- Characterization of transcriptomes of cochlear inner and outer hair cellsHuizhan 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...
- Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana 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...
- Differential expression and clinical significance of glioblastoma mRNA expression profiles in Uyghur and Han patients in Xinjiang provinceLiang Liu
Department of Neurosurgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China mainland
Med Sci Monit 20:2404-13. 2014....
- DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnosticsB Vona
Institute of Human Genetics, Julius Maximilians University, Wurzburg, Germany
Clin Genet 87:49-55. 2015Increasing 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...
- Chronic methamphetamine regulates the expression of MicroRNAs and putative target genes in the nucleus accumbens of miceLi 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)...
- Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing lossBorum 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...
- DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou 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...
- Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic HybridizationHideaki 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...
- RT-PCR analysis of Tecta, Coch, Eya4 and Strc in mouse cochlear explantsYukihide Maeda
Molecular Otolaryngology Research Laboratory, Department of Otolaryngology, The University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
Neuroreport 16:361-5. 2005Tecta, 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...
- Diagnostic application of targeted resequencing for familial nonsyndromic hearing lossByung 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...
- A phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammalsJohn 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 ..
- Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3Nicole 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...
- Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndromeErika 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...
- Enhanced normal short-term human myelopoiesis in mice engineered to express human-specific myeloid growth factorsPaul 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...
- Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren 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 ..
- Hematopoietic activity of human short-term repopulating cells in mobilized peripheral blood cell transplants is restricted to the first 5 months after transplantationOksana 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...
- Improved purification of hematopoietic stem cells based on their elevated aldehyde dehydrogenase activityOliver Christ
Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, BC, Canada
Haematologica 92:1165-72. 2007....
- A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22D 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...
- Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132M Villamar
Am J Hum Genet 64:1238-41. 1999
- Previously undetected human hematopoietic cell populations with short-term repopulating activity selectively engraft NOD/SCID-beta2 microglobulin-null miceH 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...
- Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26M 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...
- Hereditary deafness and phenotyping in humansMaria 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 ..
- Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner earLuca 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...
- Regulation of human short-term repopulating cell (STRC) engraftment in NOD/SCID mice by host CD122+ cellsLeonard 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...
- Low-dimensional maps encoding dynamics in entorhinal cortex and hippocampusDmitri 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-..
- Sensorineural deafness and male infertility: a contiguous gene deletion syndromeYuzhou 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...
- Hematopoietic stem cells survive circulation arrest and reconstitute hematopoiesis in myeloablated miceJana 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)...
- 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 systemThorsten 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)...
- Spike timing dependent plasticity promotes synchrony of inhibitory networks in the presence of heterogeneitySachin 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 ..
- A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parentsJ 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...
- The inherent differentiation program of short-term hematopoietic repopulating cells changes during human ontogenyMarlene 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 ..
- Existence and stability criteria for phase-locked modes in ring neural networks based on the spike time resetting curve methodSorinel 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)...
- Synchrony with shunting inhibition in a feedforward inhibitory networkSachin 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) ..
- Structure and expression of the cytochrome aa3 regulatory gene ctaA of Bacillus subtilisJ 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...
- Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membraneElisabeth Verpy
Unite de Genetique et Physiologie de l Audition, Institut Pasteur, Paris, France
J Comp Neurol 519:194-210. 2011b>Stereocilin is defective in a recessive form of deafness, DFNB16...
- Cytokine Induced CD26 Modulation of Adult Hematopoietic Stem Cell TraffickingKent 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 ..
- MOLECULAR GENETICS OF BACILLUS SUBTILIS CYTOCHROME AA3Harry 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...