Literature DB >> 26440088

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

Zohreh Mehrjoo1, Mojgan Babanejad, Kimia Kahrizi, Hossein Najmabadi.   

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Year:  2015        PMID： 26440088     DOI： 10.1007/s12041-015-0537-6

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  16 in total

1.  Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Authors:  A Eliot Shearer; Adam P DeLuca; Michael S Hildebrand; Kyle R Taylor; José Gurrola; Steve Scherer; Todd E Scheetz; Richard J H Smith
Journal:  Proc Natl Acad Sci U S A       Date:  2010-11-15       Impact factor: 11.205

2.  Fast and sensitive silver staining of DNA in polyacrylamide gels.

Authors:  B J Bassam; G Caetano-Anollés; P M Gresshoff
Journal:  Anal Biochem       Date:  1991-07       Impact factor: 3.365

3.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Authors:  Prateek Kumar; Steven Henikoff; Pauline C Ng
Journal:  Nat Protoc       Date:  2009-06-25       Impact factor: 13.491

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

6.  Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Authors:  Guntram Borck; Atteeq Ur Rehman; Kwanghyuk Lee; Hans-Martin Pogoda; Naseebullah Kakar; Simon von Ameln; Nicolas Grillet; Michael S Hildebrand; Zubair M Ahmed; Gudrun Nürnberg; Muhammad Ansar; Sulman Basit; Qamar Javed; Robert J Morell; Nabilah Nasreen; A Eliot Shearer; Adeel Ahmad; Kimia Kahrizi; Rehan S Shaikh; Rana A Ali; Shaheen N Khan; Ingrid Goebel; Nicole C Meyer; William J Kimberling; Jennifer A Webster; Dietrich A Stephan; Martin R Schiller; Melanie Bahlo; Hossein Najmabadi; Peter G Gillespie; Peter Nürnberg; Bernd Wollnik; Saima Riazuddin; Richard J H Smith; Wasim Ahmad; Ulrich Müller; Matthias Hammerschmidt; Thomas B Friedman; Sheikh Riazuddin; Suzanne M Leal; Jamil Ahmad; Christian Kubisch
Journal:  Am J Hum Genet       Date:  2011-01-20       Impact factor: 11.025

7.  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

8.  Predicting the functional effect of amino acid substitutions and indels.

Authors:  Yongwook Choi; Gregory E Sims; Sean Murphy; Jason R Miller; Agnes P Chan
Journal:  PLoS One       Date:  2012-10-08       Impact factor: 3.240

9.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

10.  Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Authors:  Oscar Diaz-Horta; Duygu Duman; Joseph Foster; Aslı Sırmacı; Michael Gonzalez; Nejat Mahdieh; Nikou Fotouhi; Mortaza Bonyadi; Filiz Başak Cengiz; Ibis Menendez; Rick H Ulloa; Yvonne J K Edwards; Stephan Züchner; Susan Blanton; Mustafa Tekin
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240
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  8 in total

1.  ILDR1 promotes influenza A virus replication through binding to PLSCR1.

Authors:  Yueyue Liu; Shuqian Lin; Yunhui Xie; Lu Zhao; Haibo Du; Shifa Yang; Bin Yin; Guiming Li; Zengcheng Zhao; Zhongli Huang; Zhigang Xu; Jiaqiang Wu
Journal:  Sci Rep       Date:  2022-05-20       Impact factor: 4.996

2.  Identification of homozygous mutations for hearing loss.

Authors:  Mehdi Dianatpour; Emily Smith; Seyed Basir Hashemi; Mohammad A Farazifard; Navid Nezafat; Vahid Razban; Arya Mani
Journal:  Gene       Date:  2021-01-29       Impact factor: 3.688

3.  Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.

Authors:  Jernej Kovač; Gašper Klančar; Katarina Trebušak Podkrajšek; Saba Battelino
Journal:  Front Genet       Date:  2017-06-30       Impact factor: 4.599

4.  A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Authors:  Xueling Wang; Longhao Wang; Hu Peng; Tao Yang; Hao Wu
Journal:  Neural Plast       Date:  2018-04-16       Impact factor: 3.599

5.  Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.

Authors:  Abdelaziz Tlili; Abdullah Fahd Al Mutery; Mona Mahfood; Walaa Kamal Eddine Ahmad Mohamed; Khalid Bajou
Journal:  PLoS One       Date:  2017-09-25       Impact factor: 3.240

6.  Distinct genetic variation and heterogeneity of the Iranian population.

Authors:  Zohreh Mehrjoo; Zohreh Fattahi; Maryam Beheshtian; Marzieh Mohseni; Hossein Poustchi; Fariba Ardalani; Khadijeh Jalalvand; Sanaz Arzhangi; Zahra Mohammadi; Shahrouz Khoshbakht; Farid Najafi; Pooneh Nikuei; Mohammad Haddadi; Elham Zohrehvand; Morteza Oladnabi; Akbar Mohammadzadeh; Mandana Hadi Jafari; Tara Akhtarkhavari; Ehsan Shamsi Gooshki; Aliakbar Haghdoost; Reza Najafipour; Lisa-Marie Niestroj; Barbara Helwing; Yasmina Gossmann; Mohammad Reza Toliat; Reza Malekzadeh; Peter Nürnberg; Kimia Kahrizi; Hossein Najmabadi; Michael Nothnagel
Journal:  PLoS Genet       Date:  2019-09-24       Impact factor: 5.917

7.  Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.

Authors:  Masoud Akbarzadeh Laleh; Marzieh Naseri; Ali Akbar Poursadegh Zonouzi; Ahmad Poursadegh Zonouzi; Marjan Masoudi; Najmeh Ahangari; Leila Shams; Azim Nejatizadeh
Journal:  J Res Med Sci       Date:  2017-08-16       Impact factor: 1.852

8.  A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.

Authors:  Tohid Ghasemnejad; Mahmoud Shekari Khaniani; Jafar Nouri Nojadeh; Sima Mansoori Derakhshan
Journal:  BMC Med Genomics       Date:  2022-02-01       Impact factor: 3.063
  8 in total

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