Genomes and Genes
Gene Symbol: USH1G
Description: Usher syndrome 1G (autosomal recessive)
Alias: ANKS4A, SANS, Usher syndrome type-1G protein, scaffold protein containing ankyrin repeats and SAM domain
- Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient populationXiao Mei Ouyang
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 116:292-9. 2005..involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G. Two of the 12 MYO7A mutations, R666X and IVS40-1G > T accounted for 38% of the mutations at that locus...
- Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmoninDominique Weil
Unité de Génétique des Déficits Sensoriels, CNRS URA1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Hum Mol Genet 12:463-71. 2003..We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2...
- A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25Mirna Mustapha
Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Hum Genet 110:348-50. 2002..A genome-wide screening allowed us to map this novel locus, USH1G, in a 23-cM interval on chromosome 17q24-25...
- UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux
CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
Hum Mutat 29:E76-87. 2008..databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
- A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeE Kalay
Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
J Mol Med (Berl) 83:1025-32. 2005..07 at theta=0.0 for the marker D17S801. The linkage interval contains the Usher syndrome 1G gene (USH1G) that is mutated in patients with Usher syndrome (USH) type 1g and encodes the SANS protein...
- The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsJing Yan
Department of Biochemistry, Molecular Neuroscience Center, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
Proc Natl Acad Sci U S A 107:4040-5. 2010..Harmonin/USH1C and Sans/USH1G are two of the USH1 proteins that interact with each other...
- Polymorphism analysis and RH mapping of the canine Usher syndrome 1G (USH1G) gene to CFA9P Horak
Department of Animal Morphology, Physiology and Genetics, Mendel University of Agriculture and Forestry Brno, Zemedelska 1, 613 00 Brno, Czech Republic
Anim Genet 36:270-1. 2005
- The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking routeSamantha Papal
Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
Hum Mol Genet 22:3773-88. 2013..We showed that spectrin βV also associates with two USH1 proteins, sans (USH1G) and harmonin (USH1C)...
- Prenatal smoke exposure: effects on infant auditory system and placental gene expressionBharti Katbamna
Department of Speech Pathology and Audiology, Western Michigan University, Kalamazoo, MI 49008 5355, United States
Neurotoxicol Teratol 38:61-71. 2013..The neurological process clusters included 7 genes (EML2, OTOR, SLC26A5, TBL1X, TECTA, USH1C and USH1G) known to modulate cochlear outer hair cell motility...
- USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysisFaiqa Imtiaz
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Mol Vis 18:1885-94. 2012..To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation...
- Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1Leah Rizel
The Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel
Mol Vis 17:3548-55. 2011..This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families...
- Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genesQing Yin Zheng
Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
Hum Mol Genet 21:2588-98. 2012..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
- Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereociliaElisa Caberlotto
Unite de Genetique et Physiologie de l Audition, Institut Pasteur, 75724 Paris Cedex 15, France
Proc Natl Acad Sci U S A 108:5825-30. 2011..In this study we address the role of sans, a putative scaffold protein and product of the USH1G gene...
- Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vache
CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
Hum Mutat 31:734-41. 2010..RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2...
- An update on the genetics of usher syndromeJose M Millan
Unidad de Genetica, Instituto de Investigación Sanitaria La Fe, 46009 Valencia, Spain
J Ophthalmol 2011:417217. 2011..To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D)...
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher StudyPolona Le Quesne Stabej
Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK
J Med Genet 49:27-36. 2012..This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance...
- Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesBelen Hurle
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Evol Biol 11:23. 2011..We extend our evolutionary study to include the gene mutated in Usher syndrome (USH) subtype 1G (Ush1g), both because of the head-to-tail clustering of Ush1g with Otop2 and because Otop1 and Ush1g mutations result in ..
- Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retinaNora Overlack
Institute of Zoology, Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Mainz, Germany
Biochim Biophys Acta 1813:1883-92. 2011..We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain) contributes to the periciliary protein network in retinal photoreceptor cells...
- Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargoLin Wu
Division of Life Science, Molecular Neuroscience Center, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
Science 331:757-60. 2011..1, ezrin, radixin, moesin (MyTH4-FERM) domains in the myosin tail that binds to another USH1 protein, Sans. We report the crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2...
- Microarray-based mutation analysis of 183 Spanish families with Usher syndromeTeresa Jaijo
Unidad de Genética Hospital Universitario La Fe, Valencia, Spain
Invest Ophthalmol Vis Sci 51:1311-7. 2010..The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH...
- Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairmentEberhard Schneider
Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany
Hum Mol Genet 18:655-66. 2009..Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome...
- [A preliminary study of low dosage zuclopenthixol depot in Alzheimer's disease]A Robles
Servicio de Neurologia, Hospital General de Galicia, Santiago de Compostela
Rev Neurol 24:273-5. 1996..the Scale for the Assessment of Positive Symptoms (SAPS) and the Scale for the Assessment of Negative Symptoms (SANS). Possible extrapyramidal side effects were evaluated by means of the Abnormal Involuntary Movement Scale (AIMS)...
- Clinical symptoms and regional cerebral blood flow in schizophreniaS Yuasa
Department of Neuropsychiatry, Toyama Medical and Pharmaceutical University, Japan
Eur Arch Psychiatry Clin Neurosci 246:7-12. 1995..Clinical symptoms were assessed using the Scale for the Assessment of Negative Symptoms (SANS), selected items for the Positive and Negative Syndrome Scale (PANSS), and the scale for Schneider's first rank ..
- A subscale for negative symptoms from the Comprehensive Psychopathological Rating Scale (CPRS): a comparison with the Schedule for Assessment of Negative Symptoms (SANS)E Lindstrom
Department of Psychiatry, University Hospital, Uppsala, Sweden
Eur Arch Psychiatry Clin Neurosci 246:219-23. 1996..In 40 of these patients the Schedule for Assessment of Negative Symptoms (SANS) was also applied in order to determine which items in the CPRS represent negative schizophrenic symptoms...
- Diagnosis and six-month stability of negative symptoms in psychotic disordersS Fennig
Department of Psychiatry and Behavioral Science, State University of New York at Stony Brook 11794-8790, USA
Eur Arch Psychiatry Clin Neurosci 246:63-70. 1996..The analysis focused on patients who were rated on the Scale for the Assessment of Negative Symptoms (SANS) within 45 days of admission and at follow-up 6 months later...
- Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FZ M Ahmed
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
Am J Hum Genet 69:25-34. 2001..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F...
- A second kindred linked to DFNA20 (17q25.3) reduces the genetic intervalA T DeWan
The Laboratory of Statistical Genetics, The Rockefeller University, New York, New York, USA
Clin Genet 63:39-45. 2003..The same gene is probably responsible for both DFNA20/DFNA26. In addition, the USH1G locus maps to this region and could be an allelic variant of the gene responsible for DFNA20/DFNA26...
- Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venulesJean Baptiste Vincourt
Laboratoire de Biologie Vasculaire, Institut de Pharmacologie et de Biologie Structurale du CNRS, Toulouse, France
FASEB J 17:890-2. 2003..gene mapped to human chromosome 17q25, very close to the hereditary hearing loss diseases loci DFNA20, DFNA26, and USH1G. RT-PCR analysis of SLC26 sulfate transporters in human HEVEC revealed coexpression of SLC26A11 with SLC26A2/DTDST ..
- The molecular genetics of Usher syndromeZ M Ahmed
National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
Clin Genet 63:431-44. 2003..cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding SANS)...
- Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)Jan Reiners
Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany
Mol Vis 11:347-55. 2005..Recent studies indicated that three USH1 proteins, namely myosin VIIa (USH1B), SANS (USH1G), and cadherin 23 (USH1D) interact with the USH1C gene product harmonin...
- Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher diseaseJan Reiners
Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
Exp Eye Res 83:97-119. 2006..proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G). In addition, two USH2 genes and one USH3A gene have been identified...
- 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 syndromeElena Aller
Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain
Ophthalmic Genet 28:151-5. 2007..The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome...
- A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsTina Maerker
Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany
Hum Mol Genet 17:71-86. 2008..Here, we analyzed a protein network organized in the absence of harmonin by the scaffold proteins SANS (USH1G) and whirlin (USH2D)...
- SANS (USH1G) expression in developing and mature mammalian retinaNora Overlack
Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
Vision Res 48:400-12. 2008..The USH1G gene encodes the SANS (scaffold protein containing ankyrin repeats and SAM domain) protein which consists of protein motifs known to mediate protein-protein interactions...
- A simple method for performing routine histopathological examination of the cardiac conduction tissue in the dogB M Palate
Searle European Development Centre, Mont Saint Guibert, Belgium
Toxicol Pathol 23:56-62. 1995..An average of 5 slides per node was needed to perform a satisfactory examination of each of the SANs and AVNs.