Ask about this productRelated genes to: USH1C antibody
- Gene:
- USH1C NIH gene
- Name:
- USH1 protein network component harmonin
- Previous symbol:
- DFNB18
- Synonyms:
- PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C
- Chromosome:
- 11p15.1
- Locus Type:
- gene with protein product
- Date approved:
- 1992-06-08
- Date modifiied:
- 2016-10-05
Related products to: USH1C antibody
Related articles to: USH1C antibody
- Hearing loss (HL) is one of the most common congenital conditions and exhibits substantial clinical and genetic heterogeneity. More than 150 genes are associated with non-syndromic hearing loss (NSHL), while over 600 genes are linked to syndromic hearing loss (SHL). Importantly, the absence of additional clinical symptoms at the time of diagnosis does not necessarily exclude SHL. An increasing number of functionally disruptive variants in a growing number of genes have been shown to initially present as isolated HL, only later revealing syndromic features. - Source: PubMed
Publication date: 2026/04/07
Koparir AsumanCarbajal Paulina BahenaZamini MinaNaghinejad MaryamNajarzadeh Torbati PariaHofrichter Michaela A HTovornik StefanieKoparir ErkanDragicevic Babic NedaRad AboulfazlOwrang DanielKalay IremChamanrou NiloofarMartínez Völter Luis NicolásChristophersen NeleBaranzehi TayebehRajati MohsenLoum StephenKunstmann ErdmuteShadab MadihaAbbasi Ansar AhmedDoosti MohammadAlidadiani NedaGhaderi ShahroozHaack Tobias BAlavi ShahryarDoll JuliaKremer HannieKordi-Tamandani Dor MohammadMurphy DavidMohammad RahemaHebestreit HelgeGhayoor Karimiani EhsanFlandin SophieLinares PaolaVillalobos DanielHoulden HenryGalehdari HamidShehata-Dieler WafaaMaroofian RezaHaaf ThomasVona Barbara - The molecular genetic diagnosis of prelingual sensorineural hearing impairment (HI) is essential for genetic counseling and patient management. Effective diagnosis requires a knowledge of the genetic architecture of HI, which is often lacking. We established a cohort of 450 unrelated patients with familial (at least two affected relatives) severe-to-profound bilateral prelingual HI in five countries with high consanguinity rates: Tunisia, Jordan, Algeria, Morocco, and Mauritania (the TJAMM cohort). Recessive and dominant inheritance were observed in 92% and 8% of cases, respectively; 14% were syndromic. Genome analysis detected 211 different mutations (36% not reported before) in 49 deafness genes, and fully resolved 90% of cases of autosomal recessive isolated deafness (DFNB forms), 89% of the mutations being homozygous. The deafness genes involved were similar in different countries, but their mutations, except a few in and , differed considerably, suggesting an overrepresentation of private mutations. Biallelic missense mutations in , , , cause either DFNB forms or Usher syndrome type 1 (USH1) ( genes). Such mutations were overrepresented (13% of patients), highlighting the importance of distinguishing between these two mutation classes. We hypothesized that current difficulties might stem from the misclassification of certain mutations. By studying the 65 missense mutations reported to cause DFNB in the homozygous state, we identified some that, when associated with a loss-of-function mutation, resulted in USH1, a characteristic pattern of some recessive hypomorphic mutations. This reappraised classification of mutations has the potential to improve molecular diagnosis and patient management significantly. - Source: PubMed
Publication date: 2025/12/08
Riahi ZiedBoucher SophieAbdi SamiaWong Jun Tai FabienneSingh-Estivalet AmritAghaie AsadollahNiasme-Grare MagaliHardelin Jean-PierreBehlouli AsmaDahmani MalikaTalbi SoniaBouyacoub YosraMkaouar RahmaCharfeddine CherineAmalou GhitaBakhchane AminaBousfiha AmaleSalime SaraElrharchi SoukainaSalame MalakHadrami MounaBoussaty ElyCharoute HichamDetsouli MustaphaSnoussi KhalidRouba HassanHachmi Hala ElVeten FatimetouMeiloud GhlanaMarrakchi JiheneZainine RimChahed HoudaBesbes GhaziTrabelsi MedihaMrad RidhaKraoua IchrafOuhab SofianeDjennaoui DjamelBoudjenah FaridChouery ElianeMustapha MirnaHoumeida AhmedBarakat AbdelhamidKhodja Fatima AmmarMakrelouf MohamedZenati AkilaBeltaief NajehAbdelhak SoniaPetit ChristineBonnet Crystel - Expanding insight into the phenotypic spectrum, social burden of dual sensory impairment, and progression of USH1C-associated retinopathy is essential to inform prognosis and guide emerging therapies. - Source: PubMed
Aychoua Nancyde Guimarães Thales A CPonnekanti Manav BSasidharan SajinLeung Sum-PingIbukun Folahan AdesolaJames NaomiBerry VanitaMahroo Omar AWebster Andrew RKalitzeos AngelosMichaelides Michel - Globally, the Newcastle disease virus (NDV) is a seriously important pathogen and results in substantial economic losses in the poultry industry. To mitigate this pathogen, the poultry industry has employed intensive breeding programs aimed at selecting genetic Lines that promote resistance and enhance immune response. Resistance to infection occurs at multiple levels and involves genotype-specific polymorphisms in the host. To date, the influence of genetic variations on the immune response within the same chicken Lines at the genotype-specific level is not fully understood. Therefore, it is important to understand the host genetic resistance that plays a role after NDV infection. This study aimed to investigate genotype-specific immune responses in chicken spleens following NDV infection at 7 days post-infection (7dpi), Samples were analyzed for differentially expressed genes (DEGs) using high-throughput RNA sequencing approaches. - Source: PubMed
Publication date: 2025/11/13
Berihulay HaileLuo WeiLin ChuxiaoLao AinongJebessa EndashawZou XianJi JianQu HaoCai ManshanShu DingmingLuo Chenglong - Transgenic pig models are a valuable model for preclinical testing of gene and cell therapies. Subretinal injection (SRI) is a common drug delivery method but has been associated with retinal thinning and atrophy. This study examined whether SRI volume correlates with retinal thinning in the pig eye and compared the effects of balanced salt solution (BSS) and adeno-associated virus (AAV) injections. - Source: PubMed
Seitz Immanuel PNyshchuk RuslanEllederova ZdenkaArdan TarasJuhasova JanaNemesh YaroslavJuhas StefanDrutovic SaskiaSüsskind DanielaSchnichels SvenMotlik JanKlymiuk NikolaiWolfrum UwePost DeMott KathrynKlein Jennifer JWinslow AshleyFischer M Dominik