| Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. | Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Nishio SY, Usami SI., Free PMC Article | 07/29/2024 |
| Dispersed DNA variants underlie hearing loss in South Florida's minority population. | Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M., Free PMC Article | 01/4/2024 |
| Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects. | Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.
Benoit C, Carlson RJ, King MC, Horn DL, Rubinstein JT., Free PMC Article | 11/10/2023 |
| Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report. | Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.
Achard S, Simon F, Denoyelle F, Marlin S. | 05/30/2023 |
| Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions. | Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
Achard S, Campion M, Parodi M, MacAskill M, Hochet B, Simon F, Rouillon I, Jonard L, Serey-Gaut M, Denoyelle F, Loundon N, Marlin S. | 03/27/2023 |
| Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss. | Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A., Free PMC Article | 02/12/2022 |
| Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing. | Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P. | 08/21/2021 |
| Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population. | Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.
Markova TG, Alekseeva NN, Mironovich OL, Galeeva NM, Lalayants MR, Bliznetz EA, Chibisova SS, Polyakov AV, Tavartkiladze GA. | 05/29/2021 |
| Frequency and clinical features of hearing loss caused by STRC deletions. | Frequency and clinical features of hearing loss caused by STRC deletions.
Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI., Free PMC Article | 10/3/2020 |
| [Hearing loss due to mutations or lack of the gene coding protein stereocillin].", trans "Narushenie slukha pri mutatsiyakh ili otsutstvii gena, kodiruyushchego belok stereotsilin. | [Hearing loss due to mutations or lack of the gene coding protein stereocillin].
Markova TG, Alekseeva NN, Mironovich OL, Bliznets EA, Lalayants MR, Polyakov AV, Tavartkiladze GA. | 09/12/2020 |
| A novel allele-specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from the STRC transcription start site. | Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.
Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA., Free PMC Article | 06/27/2020 |
| Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC [STRC protein, human]. | Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P. | 02/22/2020 |
| STRC variants were identified in the members of the family affected with with episodic vertigo and sensorineural hearing loss. | Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.
Frykholm C, Klar J, Tomanovic T, Ameur A, Dahl N., Free PMC Article | 03/30/2019 |
| results provide strong evidence that STRC gene mutations are an important cause of nonsyndromic hearing loss-autosomal recessive in Czech hearing loss patients. | STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
Marková SP, Brožková DŠ, Laššuthová P, Mészárosová A, Krůtová M, Neupauerová J, Rašková D, Trková M, Staněk D, Seeman P. | 07/28/2018 |
| STRC was the second most frequently mutated gene in patients from the Czech Republic with hearing loss | STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
Plevova P, Paprskarova M, Tvrda P, Turska P, Slavkovsky R, Mrazkova E. | 06/2/2018 |
| Three probands with progressive mild to moderate hearing loss were found among 40 subjects with autosomal recessive non-syndromic hearing loss to segregate homozygous STRC deletions and gene to pseudogene conversion. | Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI., Free PMC Article | 01/28/2017 |
| we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss. | Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.
Sagong B, Baek JI, Bok J, Lee KY, Kim UK. | 08/20/2016 |
| STRC is a major contributor to DFNB16 congenital hearing impairment. | DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T., Free PMC Article | 08/22/2015 |
| The data suggest that STRC may be a common contributor to NBSNHI among GJB2 mutation negative probands, especially in those with mild to moderate hearing impairment. | Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID., Free PMC Article | 07/21/2012 |