Literature DB >> 11333869

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

M A Moreno-Pelayo, I del Castillo, M Villamar, L Romero, F J Hernández-Calvín, C Herraiz, R Barberá, C Navas, F Moreno.   

Abstract

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Year:  2001        PMID： 11333869      PMCID： PMC1734870          DOI： 10.1136/jmg.38.5.e13

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Biophysical mechanisms underlying outer hair cell loss associated with a shortened tectorial membrane.

Authors:  Christopher C Liu; Simon S Gao; Tao Yuan; Charles Steele; Sunil Puria; John S Oghalai
Journal:  J Assoc Res Otolaryngol       Date:  2011-05-13

2.  A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

Authors:  W Daniel Walls; Hideaki Moteki; Taylor R Thomas; Shin-Ya Nishio; Hidekane Yoshimura; Yoichiro Iwasa; Kathy L Frees; Carla J Nishimura; Hela Azaiez; Kevin T Booth; Robert J Marini; Diana L Kolbe; A Monique Weaver; Amanda M Schaefer; Kai Wang; Terry A Braun; Shin-Ichi Usami; Peter G Barr-Gillespie; Guy P Richardson; Richard J Smith; Thomas L Casavant
Journal:  Hum Genet       Date:  2020-05-07       Impact factor: 4.132

3.  Characteristics of Mid-Frequency Sensorineural Hearing Loss Progression.

Authors:  Jack Birkenbeuel; Mehdi Abouzari; Khodayar Goshtasbi; Omid Moshtaghi; Ronald Sahyouni; Afsheen Moshtaghi; Dillon Cheung; Donna Gelnett; Harrison W Lin; Hamid R Djalilian
Journal:  Otol Neurotol       Date:  2019-06       Impact factor: 2.311

4.  A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Authors:  Rutger F Plantinga; Arjan P M de Brouwer; Patrick L M Huygen; Henricus P M Kunst; Hannie Kremer; Cor W R J Cremers
Journal:  J Assoc Res Otolaryngol       Date:  2006-04-25

5.  DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Authors:  Michael S Hildebrand; Matías Morín; Nicole C Meyer; Fernando Mayo; Silvia Modamio-Hoybjor; Angeles Mencía; Leticia Olavarrieta; Carmelo Morales-Angulo; Carla J Nishimura; Heather Workman; Adam P DeLuca; Ignacio del Castillo; Kyle R Taylor; Bruce Tompkins; Corey W Goodman; Isabelle Schrauwen; Maarten Van Wesemael; K Lachlan; A Eliot Shearer; Terry A Braun; Patrick L M Huygen; Hannie Kremer; Guy Van Camp; Felipe Moreno; Thomas L Casavant; Richard J H Smith; Miguel A Moreno-Pelayo
Journal:  Hum Mutat       Date:  2011-06-07       Impact factor: 4.878

6.  Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Authors:  Miguel Angel Moreno-Pelayo; Richard J Goodyear; Angeles Mencía; Silvia Modamio-Høybjør; P Kevin Legan; Leticia Olavarrieta; Felipe Moreno; Guy P Richardson
Journal:  J Assoc Res Otolaryngol       Date:  2008-05-02

7.  Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Authors:  Rob W J Collin; Ramesh Chellappa; Robert-Jan Pauw; Gert Vriend; Jaap Oostrik; Wendy van Drunen; Patrick L Huygen; Ronald Admiraal; Lies H Hoefsloot; Frans P M Cremers; Mengqing Xiang; Cor W R J Cremers; Hannie Kremer
Journal:  Hum Mutat       Date:  2008-04       Impact factor: 4.878

Review 8.  Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Authors:  Rahul Mittal; Amit P Patel; Desiree Nguyen; Debbie R Pan; Vasanti M Jhaveri; Jason R Rudman; Arjuna Dharmaraja; Denise Yan; Yong Feng; Prem Chapagain; David J Lee; Susan H Blanton; Xue Zhong Liu
Journal:  Gene       Date:  2018-01-10       Impact factor: 3.688

9.  'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis.

Authors:  Anasua Ganguly; Pankaj Bansal; Tripti Gupta; Satish K Gupta
Journal:  Reprod Biol Endocrinol       Date:  2010-09-11       Impact factor: 5.211

10.  The PLAC1-homology region of the ZP domain is sufficient for protein polymerisation.

Authors:  Luca Jovine; William G Janssen; Eveline S Litscher; Paul M Wassarman
Journal:  BMC Biochem       Date:  2006-04-06       Impact factor: 4.059
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