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43 results

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Page 1
Chromosome 15q15 Deletion Drives Brain Metastasis in NSCLC.
Miyakoshi J, Shiraishi K, Mochizuki A, Tateishi A, Shimoda-Igawa Y, Torasawa M, Ono H, Ohno M, Yoshida Y, Yoshida T, Kaneko S, Yagishita S, Hamada A, Yatabe Y, Goto Y, Suzuki T, Narita Y, Watanabe SI, Hamamoto R, Kohno T. Miyakoshi J, et al. J Thorac Oncol. 2026 Apr;21(4):103511. doi: 10.1016/j.jtho.2025.11.001. Epub 2025 Nov 7. J Thorac Oncol. 2026. PMID: 41207477 Free article.
These findings were obtained using the validation cohort. The 15q15 deletions significantly co-occurred with EGFR mutations (p = 2.8 10(-7)). In matched PT-BM pairs, the 15q15 deletion was detected exclusively in BMs in 46.7% of patients. ...NSCLC ce …
These findings were obtained using the validation cohort. The 15q15 deletions significantly co-occurred with EGFR mutations (p …
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D. Hoppman N, et al. Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19. Mol Cytogenet. 2013. PMID: 23648117 Free PMC article.
Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. ...RESULTS: We recently indentified a p …
Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome re …
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Nishio SY, Usami SI. Nishio SY, et al. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5. Sci Rep. 2022. PMID: 35022556 Free PMC article.
The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss. ...In addition, 77.1% of cases with STRC homozygous deletions carried a two copy loss of the entire CKMT1B-STRC-CATS …
The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineur …
Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.
Shur N, Cowan J, Wheeler PG. Shur N, et al. Am J Med Genet A. 2003 Aug 1;120A(4):542-6. doi: 10.1002/ajmg.a.20093. Am J Med Genet A. 2003. PMID: 12884436
We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the …
We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associat …
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.
Alvaro S, Castillo D, Genovés J, Prados ED, Levorato M, Albertí A, Díaz Á, Cardelús S, Martorell L. Alvaro S, et al. J Hum Genet. 2025 Aug;70(8):395-403. doi: 10.1038/s10038-025-01347-9. Epub 2025 May 8. J Hum Genet. 2025. PMID: 40341240
Recent studies have also highlighted the STRC gene as a significant contributor to NSHL, with its incidence potentially approaching that of connexin alterations. ...The most common cause of DFNB16 is a homozygous large contiguous gene deletion at 15q15 …
Recent studies have also highlighted the STRC gene as a significant contributor to NSHL, with its incidence potentially approaching t …
Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Hiraki Y, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339. Am J Med Genet A. 2008. PMID: 18449934
Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. ...Interestingly, the entire FBN1 gene was deleted in this patient....
Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. ... …
High-resolution deletion mapping of 15q13.2-q21.1 in transitional cell carcinoma of the bladder.
Natrajan R, Louhelainen J, Williams S, Laye J, Knowles MA. Natrajan R, et al. Cancer Res. 2003 Nov 15;63(22):7657-62. Cancer Res. 2003. PMID: 14633686
Deletions found in several types of human tumor, including carcinomas of the colorectum, breast, and lung, suggest the presence of a potential tumor suppressor gene(s) on chromosome 15. ...LOH was found for at least one marker in the region 15q14-15q15.3 in 2 …
Deletions found in several types of human tumor, including carcinomas of the colorectum, breast, and lung, suggest the presence of a …
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H. Sack LM, et al. Clin Chem. 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. Clin Chem. 2023. PMID: 37022747
BACKGROUND: Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndrome (DIS), while biallelic deletions of STRC alone cause nonsyndromic hearing loss. ...RESULTS: Assessment of 15q15.3 CNVs by C …
BACKGROUND: Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndro …
Genetic abnormalities in catatonia: a systematic review.
Conti I, Ramachandran K, Badenoch JB, Fanshawe JB, Rengasamy E, Cross B, Rogdaki M, David AS, Santosh P, Rogers JP, Watson C. Conti I, et al. Psychol Med. 2025 Jun 13;55:e164. doi: 10.1017/S0033291725100536. Psychol Med. 2025. PMID: 40509778 Free PMC article.
Forty-seven genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (n = 80), 22q11.2 deletion syndrome (n = 23), and Down's syndrome (n = 19). Study quality was good in 29 studies, moderate in 53, and poor in 17. The major focus of association st …
Forty-seven genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (n = 80), 22q11.2 deletion syndrome (n …
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Zhang Y, et al. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098888 Free PMC article.
BACKGROUND: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3. ...CONCLUSION: We have identified three families segregating …
BACKGROUND: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS …
43 results