耳硬化症的一个新基因座OTSC10定位于1号染色体1q41 - 44区域。 - Suppr

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

作者信息

Schrauwen I, Weegerink N J D, Fransen E, Claes C, Pennings R J E, Cremers C W R J, Huygen P L M, Kunst H P M, Van Camp G

出版信息

Clin Genet. 2011 May;79(5):495-7. doi: 10.1111/j.1399-0004.2010.01576.x.

DOI:10.1111/j.1399-0004.2010.01576.x

PMID:21470211

Abstract

摘要

相似文献

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

Clin Genet. 2011 May;79(5):495-7. doi: 10.1111/j.1399-0004.2010.01576.x.

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10.

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

Arch Otolaryngol Head Neck Surg. 2006 Apr;132(4):416-24. doi: 10.1001/archotol.132.4.416.

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.

J Med Genet. 2004 Jun;41(6):450-3. doi: 10.1136/jmg.2004.018671.

Phenotype of the first otosclerosis family linked to OTSC10.

Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463.

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.

Clin Genet. 2008 Nov;74(5):490-2. doi: 10.1111/j.1399-0004.2008.01092.x. Epub 2008 Sep 20.

The genetics of otosclerosis: pedigree studies and linkage analysis.

Adv Otorhinolaryngol. 2007;65:75-85. doi: 10.1159/000098675.

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

Ann Neurol. 2003 Dec;54(6):796-803. doi: 10.1002/ana.10768.

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

J Med Genet. 2002 Jul;39(7):473-7. doi: 10.1136/jmg.39.7.473.

No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees.

J Laryngol Otol. 2007 Dec;121(12):1140-7. doi: 10.1017/S0022215107000655. Epub 2007 Oct 2.

引用本文的文献

Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.

Acta Otorhinolaryngol Ital. 2025 Jun;45(Suppl. 1):S2-S17. doi: 10.14639/0392-100X-suppl.1_3-45-2025-A1334.

Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.

J Clin Med. 2022 Nov 26;11(23):6978. doi: 10.3390/jcm11236978.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11.

Genetics of otosclerosis: finally catching up with other complex traits?

Hum Genet. 2022 Apr;141(3-4):939-950. doi: 10.1007/s00439-021-02357-1. Epub 2021 Sep 9.

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

Hum Genet. 2022 Apr;141(3-4):951-963. doi: 10.1007/s00439-021-02334-8. Epub 2021 Aug 19.

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

Otol Neurotol. 2021 Sep 1;42(8):e1143-e1151. doi: 10.1097/MAO.0000000000003176.

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9.

The Epidemiology of Otosclerosis in a British Cohort.

Otol Neurotol. 2019 Jan;40(1):22-30. doi: 10.1097/MAO.0000000000002047.

Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Hum Mol Genet. 2016 Jun 15;25(12):2393-2403. doi: 10.1093/hmg/ddw106. Epub 2016 Apr 7.

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

Indian J Otolaryngol Head Neck Surg. 2014 Sep;66(3):297-301. doi: 10.1007/s12070-014-0706-6. Epub 2014 Jan 30.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

Clin Genet. 2011 May;79(5):495-7. doi: 10.1111/j.1399-0004.2010.01576.x.

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Eur J Hum Genet. 2007 Mar;15(3):362-8. doi: 10.1038/sj.ejhg.5201761. Epub 2007 Jan 10.

Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus.

Arch Otolaryngol Head Neck Surg. 2006 Apr;132(4):416-24. doi: 10.1001/archotol.132.4.416.

A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.

J Med Genet. 2004 Jun;41(6):450-3. doi: 10.1136/jmg.2004.018671.

Phenotype of the first otosclerosis family linked to OTSC10.

Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463.

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.

Clin Genet. 2008 Nov;74(5):490-2. doi: 10.1111/j.1399-0004.2008.01092.x. Epub 2008 Sep 20.

The genetics of otosclerosis: pedigree studies and linkage analysis.

Adv Otorhinolaryngol. 2007;65:75-85. doi: 10.1159/000098675.

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

Ann Neurol. 2003 Dec;54(6):796-803. doi: 10.1002/ana.10768.

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

J Med Genet. 2002 Jul;39(7):473-7. doi: 10.1136/jmg.39.7.473.

No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees.

J Laryngol Otol. 2007 Dec;121(12):1140-7. doi: 10.1017/S0022215107000655. Epub 2007 Oct 2.

引用本文的文献

Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.

Acta Otorhinolaryngol Ital. 2025 Jun;45(Suppl. 1):S2-S17. doi: 10.14639/0392-100X-suppl.1_3-45-2025-A1334.

Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.

J Clin Med. 2022 Nov 26;11(23):6978. doi: 10.3390/jcm11236978.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11.

Genetics of otosclerosis: finally catching up with other complex traits?

Hum Genet. 2022 Apr;141(3-4):939-950. doi: 10.1007/s00439-021-02357-1. Epub 2021 Sep 9.

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

Hum Genet. 2022 Apr;141(3-4):951-963. doi: 10.1007/s00439-021-02334-8. Epub 2021 Aug 19.

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

Otol Neurotol. 2021 Sep 1;42(8):e1143-e1151. doi: 10.1097/MAO.0000000000003176.

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Mol Genet Genomics. 2019 Aug;294(4):1001-1006. doi: 10.1007/s00438-019-01558-8. Epub 2019 Apr 9.

The Epidemiology of Otosclerosis in a British Cohort.

Otol Neurotol. 2019 Jan;40(1):22-30. doi: 10.1097/MAO.0000000000002047.

Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Hum Mol Genet. 2016 Jun 15;25(12):2393-2403. doi: 10.1093/hmg/ddw106. Epub 2016 Apr 7.

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

Indian J Otolaryngol Head Neck Surg. 2014 Sep;66(3):297-301. doi: 10.1007/s12070-014-0706-6. Epub 2014 Jan 30.

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.

作者信息

出版信息

相似文献

引用本文的文献