Pages that link to "Q24533348"
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The following pages link to Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (Q24533348):
Displaying 50 items.
- Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II (Q24306120) (← links)
- Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton (Q24322993) (← links)
- Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients (Q24338111) (← links)
- Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport (Q24532051) (← links)
- Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations (Q24563482) (← links)
- Alternative splice variants of the USH3A gene Clarin 1 (CLRN1) (Q24622165) (← links)
- Mediator kinase module and human tumorigenesis (Q26800203) (← links)
- Structures of usher syndrome 1 proteins and their complexes (Q27023615) (← links)
- CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development (Q27312044) (← links)
- Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa (Q28115096) (← links)
- Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors (Q28511224) (← links)
- Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome (Q28553815) (← links)
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study (Q28681602) (← links)
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities (Q30389509) (← links)
- Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. (Q30393797) (← links)
- Genetics of auditory mechano-electrical transduction (Q30421422) (← links)
- The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene (Q30422890) (← links)
- Deafness and retinal degeneration in a novel USH1C knock-in mouse model (Q30476608) (← links)
- At the speed of sound: gene discovery in the auditory system (Q30502974) (← links)
- A small molecule mitigates hearing loss in a mouse model of Usher syndrome III (Q30758870) (← links)
- Usher syndrome type III can mimic other types of Usher syndrome (Q30955016) (← links)
- Usher syndrome type 3A (Q32143675) (← links)
- Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. (Q33618805) (← links)
- USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses (Q34134919) (← links)
- Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing (Q34166178) (← links)
- The Finnish Disease Heritage III: the individual diseases (Q34182582) (← links)
- 2002 William Allen Award address. Introductory speech for Albert de la Chapelle (Q34183503) (← links)
- The molecular genetics of Usher syndrome (Q34202837) (← links)
- Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures (Q34405611) (← links)
- Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene (Q34410659) (← links)
- Database for the mutations of the Finnish disease heritage (Q34520022) (← links)
- The complexities of ocular genetics (Q34592303) (← links)
- Genetics of population isolates. (Q34657331) (← links)
- Continuing to break the sound barrier: genes in hearing (Q34699453) (← links)
- Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa (Q34759816) (← links)
- Multiple hits during early embryonic development: digenic diseases and holoprosencephaly (Q34978312) (← links)
- Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis (Q35074263) (← links)
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome (Q35078642) (← links)
- Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 (Q35117928) (← links)
- The genetic bases for syndromic and nonsyndromic deafness among Jews (Q35578676) (← links)
- Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss (Q35591172) (← links)
- Current understanding of usher syndrome type II. (Q35830124) (← links)
- AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy. (Q35924907) (← links)
- Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients (Q36027549) (← links)
- Genetics of Hearing Loss: Syndromic (Q36271544) (← links)
- Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders (Q36362825) (← links)
- Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. (Q36511585) (← links)
- USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. (Q36680172) (← links)
- Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1 (Q36727696) (← links)
- The changing face of Usher syndrome: clinical implications (Q36761749) (← links)