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Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.
- Published in:
- EMBO Molecular Medicine, 2009, v. 1, n. 2, p. 125, doi. 10.1002/emmm.200900015
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- Publication type:
- Article
Minimally Invasive Surgery for Anorectal Malformation in Boys: A Multicenter Study.
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- Journal of Laparoendoscopic & Advanced Surgical Techniques, 2009, v. 19, p. s233, doi. 10.1089/lap.2008.0137.supp
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- Publication type:
- Article
Characteristics and management of congenital esophageal stenosis: findings from a multicenter study.
- Published in:
- 2013
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- Publication type:
- journal article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 21, doi. 10.1186/1750-1172-6-21
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- Publication type:
- Article
The DDX6-4E-T interaction mediates translational repression and P-body assembly.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 13, p. 6318, doi. 10.1093/nar/gkw565
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- Publication type:
- Article
Les P-bodies: Des gouttelettes microscopiques pour stocker les messagers de protéines régulatrices.
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- Médecine Sciences, 2018, v. 34, n. 4, p. 306, doi. 10.1051/medsci/20183404009
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- Publication type:
- Article
La mitochondrie: Un nouvel acteur de la régulation par ARN interférence.
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- Médecine Sciences, 2012, v. 28, n. 1, p. 23, doi. 10.1051/medsci/2012281008
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- Publication type:
- Article
Condensate functionalization with microtubule motors directs their nucleation in space and allows manipulating RNA localization.
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- EMBO Journal, 2023, v. 42, n. 20, p. 1, doi. 10.15252/embj.2023114106
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- Publication type:
- Article
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 770, doi. 10.1038/ng1829
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- Publication type:
- Article
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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- Nature Genetics, 2003, v. 34, n. 4, p. 421, doi. 10.1038/ng1208
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- Publication type:
- Article
Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099797
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- Publication type:
- Article
CDC2L5, a Cdk-like kinase with RS domain, interacts with the ASF/SF2-associated protein p32 and affects splicing in vivo.
- Published in:
- Journal of Cellular Biochemistry, 2006, v. 99, n. 3, p. 890, doi. 10.1002/jcb.20986
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- Publication type:
- Article
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.
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- Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x
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- Publication type:
- Article
RNA is a critical element for the sizing and the composition of phase-separated RNA–protein condensates.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-11241-6
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- Publication type:
- Article
Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 122, doi. 10.1038/ejhg.2008.155
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- Publication type:
- Article
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
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- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 279, doi. 10.1038/sj.ejhg.5201147
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- Publication type:
- Article
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
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- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 816, doi. 10.1038/sj.ejhg.5201045
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- Publication type:
- Article
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200934
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- Publication type:
- Article
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 851, doi. 10.1038/sj.ejhg.5200894
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- Publication type:
- Article
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
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- European Journal of Human Genetics, 2002, v. 10, n. 6, p. 391, doi. 10.1038/sj.ejhg.5200813
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- Publication type:
- Article
DNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 210, doi. 10.1038/sj.ejhg.5200780
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- Publication type:
- Article
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 548, doi. 10.1038/sj.ejhg.5200261
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- Publication type:
- Article
Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 24, p. 6478, doi. 10.1523/JNEUROSCI.0342-07.2007
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- Publication type:
- Article
Isolation and Characterization of the Human Fibrillar Collagen Genesa.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 460, n. 1, p. 117, doi. 10.1111/j.1749-6632.1985.tb51160.x
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- Publication type:
- Article
Evolution is not Uniform Along Coding Sequences.
- Published in:
- Molecular Biology & Evolution, 2023, v. 40, n. 3, p. 1, doi. 10.1093/molbev/msad042
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- Publication type:
- Article
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2009, v. 459, n. 1, p. 115, doi. 10.1007/s00424-009-0711-x
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- Publication type:
- Article
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
- Published in:
- 2008
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- Publication type:
- Letter
High frequency trans-splicing in a cell line producing spliced and polyadenylated RNA polymerase I transcripts from an rDNA-myc chimeric gene.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 7, p. 2332, doi. 10.1093/nar/gki530
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- Publication type:
- Article
Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 6, p. 402, doi. 10.1111/ahg.12131
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- Publication type:
- Article
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.
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- Journal of Comparative Neurology, 2011, v. 519, n. 2, p. 194, doi. 10.1002/cne.22509
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- Publication type:
- Article
Association between altered placental human chorionic gonadotrophin (hCG) production and the occurrence of cryptorchidism: a retrospective study.
- Published in:
- BMC Pediatrics, 2014, v. 14, n. 1, p. 191, doi. 10.1186/1471-2431-14-191
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- Publication type:
- Article
Association between altered placental human chorionic gonadotrophin (hCG) production and the occurrence of cryptorchidism: a retrospective study.
- Published in:
- 2014
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- Publication type:
- journal article
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 189, doi. 10.1002/mgg3.131
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- Publication type:
- Article
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3835, doi. 10.1093/hmg/dds212
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- Publication type:
- Article
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
- Published in:
- Biochemical Society Transactions, 2020, v. 48, n. 3, p. 1199, doi. 10.1042/bst20200109
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- Publication type:
- Article
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
- Published in:
- Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9333
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- Publication type:
- Article
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 24, p. 3921, doi. 10.1093/hmg/ddi416
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- Publication type:
- Article
Interactions in the network of Usher syndrome type 1 proteins.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 3, p. 347, doi. 10.1093/hmg/ddi031
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- Publication type:
- Article
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 463, doi. 10.1093/hmg/ddg051
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- Publication type:
- Article
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
- Published in:
- Nature, 1995, v. 374, n. 6517, p. 60, doi. 10.1038/374060a0
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- Publication type:
- Article
An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 3, p. 409, doi. 10.1093/hmg/8.3.409
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- Publication type:
- Article
Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 13, p. 2247, doi. 10.1093/hmg/6.13.2247
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- Publication type:
- Article
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173
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- Publication type:
- Article
Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1985, doi. 10.1093/hmg/6.11.1985
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- Publication type:
- Article
Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 1, p. 111, doi. 10.1093/hmg/6.1.111
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- Publication type:
- Article
Pat1 RNA‐binding proteins: Multitasking shuttling proteins.
- Published in:
- Wiley Interdisciplinary Reviews: RNA, 2019, v. 10, n. 6, p. N.PAG, doi. 10.1002/wrna.1557
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- Publication type:
- Article
Screening mutations of OTOF gene in Chinesepatients with auditory neuropathy, including afamilial case of temperature-sensitive auditoryneuropathy.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 79, doi. 10.1186/1471-2350-11-79
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- Publication type:
- Article