Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss-Reference-Cited by-同舟云学术

Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

Published:2019-10 Issue:12 Volume:40 Page:2286-2295
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Morgan Anna¹^ORCID,Koboldt Daniel C.²³,Barrie Elizabeth S.²,Crist Erin R.²³⁴,García García Gema⁵,Mezzavilla Massimo⁶,Faletra Flavio⁶,Mihalic Mosher Theresa²³⁴,Wilson Richard K.²⁴,Blanchet Catherine⁷,Manickam Kandamurugu³⁴,Roux Anne‐Francoise⁵,Gasparini Paolo¹⁶,Dell’Orco Daniele⁸,Girotto Giorgia¹⁶

Affiliation:

1. Department of Medicine, Surgery and Health SciencesUniversity of Trieste Trieste Italy

2. Institute for Genomic MedicineNationwide Children's Hospital Columbus Ohio

3. Department of PediatricsThe Ohio State University Columbus Ohio

4. Division of Genetic and Genomic MedicineNationwide Children's Hospital Columbus Ohio

5. Laboratory of Molecular Genetics, CHU MontpellierUniversity of Montpellier Montpellier France

6. Institute for Maternal and Child Health – IRCCSBurlo Garofolo Trieste Italy

7. Centre of Reference for Genetic Sensory Diseases, CHU MontpellierUniversity of Montpellier Montpellier France

8. Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological ChemistryUniversity of Verona Verona Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23891

Reference48 articles.

1. A new age in the genetics of deafness

2. The stable actin core of mechanosensory stereocilia features continuous turnover of actin cross-linkers

3. Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss

4. HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice

5. Structural comparisons of calponin homology domains: implications for actin binding

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