Literature DB >> 23173898

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

K Lee, I Chiu, R L P Santos-Cortez, S Basit, S Khan, Z Azeem, P B Andrade, S S Kim, W Ahmad, S M Leal.   

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Year:  2012        PMID： 23173898      PMCID： PMC6220893          DOI： 10.1111/cge.12047

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  MutationTaster evaluates disease-causing potential of sequence alterations.

Authors:  Jana Marie Schwarz; Christian Rödelsperger; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2010-08       Impact factor: 28.547

2.  Loop-length-dependent SVM prediction of domain linkers for high-throughput structural proteomics.

Authors:  Teppei Ebina; Hiroyuki Toh; Yutaka Kuroda
Journal:  Biopolymers       Date:  2009       Impact factor: 2.505

3.  Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

Authors:  Ingrid Zwaenepoel; Mirna Mustapha; Michel Leibovici; Elisabeth Verpy; Richard Goodyear; Xue Zhong Liu; Sylvie Nouaille; Walter E Nance; Moien Kanaan; Karen B Avraham; Fredj Tekaia; Jacques Loiselet; Marc Lathrop; Guy Richardson; Christine Petit
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-23       Impact factor: 11.205

4.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

5.  InterProScan: protein domains identifier.

Authors:  E Quevillon; V Silventoinen; S Pillai; N Harte; N Mulder; R Apweiler; R Lopez
Journal:  Nucleic Acids Res       Date:  2005-07-01       Impact factor: 16.971

6.  The Jpred 3 secondary structure prediction server.

Authors:  Christian Cole; Jonathan D Barber; Geoffrey J Barton
Journal:  Nucleic Acids Res       Date:  2008-05-07       Impact factor: 16.971

7.  Mesothelin, Stereocilin, and Otoancorin are predicted to have superhelical structures with ARM-type repeats.

Authors:  Bangalore K Sathyanarayana; Yoonsoo Hahn; Manish S Patankar; Ira Pastan; Byungkook Lee
Journal:  BMC Struct Biol       Date:  2009-01-07

8.  Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Authors:  Tom Walsh; Amal Abu Rayan; Judeh Abu Sa'ed; Hashem Shahin; Jeanne Shepshelovich; Ming K Lee; Koret Hirschberg; Mustafa Tekin; Wa'el Salhab; Karen B Avraham; Mary-Claire King; Moien Kanaan
Journal:  Hum Genomics       Date:  2006-01       Impact factor: 4.639
  8 in total
  7 in total

1.  Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.

Authors:  Bong Jik Kim; Dong-Kyu Kim; Jin Hee Han; Jayoung Oh; Ah Reum Kim; Chung Lee; Nayoung Kd Kim; Hye-Rim Park; Min Young Kim; Sejoon Lee; Seungmin Lee; Doo Yi Oh; Woong-Yang Park; Sungjin Park; Byung Yoon Choi
Journal:  Hum Mutat       Date:  2019-02-28       Impact factor: 4.878

2.  Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Authors:  Roxane Van Heurck; Maria Teresa Carminho-Rodrigues; Emmanuelle Ranza; Caterina Stafuzza; Lina Quteineh; Corinne Gehrig; Eva Hammar; Michel Guipponi; Marc Abramowicz; Pascal Senn; Nils Guinand; Helene Cao-Van; Ariane Paoloni-Giacobino
Journal:  Genes (Basel)       Date:  2021-08-20       Impact factor: 4.096

3.  Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Authors:  Elodie M Richard; Regie Lyn P Santos-Cortez; Rabia Faridi; Atteeq U Rehman; Kwanghyuk Lee; Mohsin Shahzad; Anushree Acharya; Asma A Khan; Ayesha Imtiaz; Imen Chakchouk; Christina Takla; Izoduwa Abbe; Maria Rafeeq; Khurram Liaqat; Taimur Chaudhry; Michael J Bamshad; Deborah A Nickerson; Isabelle Schrauwen; Shaheen N Khan; Robert J Morell; Saba Zafar; Muhammad Ansar; Zubair M Ahmed; Wasim Ahmad; Sheikh Riazuddin; Thomas B Friedman; Suzanne M Leal; Saima Riazuddin
Journal:  Hum Mutat       Date:  2018-11-18       Impact factor: 4.878

4.  Patterns of gene expression associated with Pten deficiency in the developing inner ear.

Authors:  Hyung Jin Kim; Jihee Ryu; Hae-Mi Woo; Samuel Sunghwan Cho; Min Kyung Sung; Sang Cheol Kim; Mi-Hyun Park; Taesung Park; Soo Kyung Koo
Journal:  PLoS One       Date:  2014-06-03       Impact factor: 3.240

5.  Copy number variants are a common cause of non-syndromic hearing loss.

Authors:  A Eliot Shearer; Diana L Kolbe; Hela Azaiez; Christina M Sloan; Kathy L Frees; Amy E Weaver; Erika T Clark; Carla J Nishimura; E Ann Black-Ziegelbein; Richard J H Smith
Journal:  Genome Med       Date:  2014-05-22       Impact factor: 11.117

6.  Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.

Authors:  Kenjiro Sugiyama; Hideaki Moteki; Shin-Ichiro Kitajiri; Tomohiro Kitano; Shin-Ya Nishio; Tomomi Yamaguchi; Keiko Wakui; Satoko Abe; Akiko Ozaki; Remi Motegi; Hirooki Matsui; Masato Teraoka; Yumiko Kobayashi; Tomoki Kosho; Shin-Ichi Usami
Journal:  Genes (Basel)       Date:  2019-09-16       Impact factor: 4.096

7.  Positive selection in admixed populations from Ethiopia.

Authors:  Sandra Walsh; Luca Pagani; Yali Xue; Hafid Laayouni; Chris Tyler-Smith; Jaume Bertranpetit
Journal:  BMC Genet       Date:  2020-10-22       Impact factor: 2.797
  7 in total

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