PMID: 32524838DOI: 10.1177/1535370220931035Jun 12, 2020Paper
GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Experimental Biology and Medicine
Samuel M AdadeyAmbroise Wonkam
Abstract
Although connexins are known to be the major genetic factors associated with HI, only a few studies have investigated GJB4 and GJC3 variants among hearing-impaired patients. This study is the first to report GJB4 and GJC3 variants from an African HI cohort. We have demonstrated that GJB4 and GJC3 genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana. However, it is important to study a larger population to determine the association of GJB4 and GJC3 variants with HI.
References
Feb 21, 1998·The New England Journal of Medicine·G W BrobbyR D Horstmann
Feb 17, 2001·American Journal of Human Genetics·D P KelsellM J Houseman
May 5, 2001·Genome Research·P C Ng, S Henikoff
Jul 5, 2001·Human Mutation·C HamelmannR D Horstmann
Jan 25, 2002·The New England Journal of Medicine·Ignacio del CastilloFelipe Moreno
Mar 5, 2002·Genome Research·Pauline C Ng, Steven Henikoff
Apr 5, 2002·Human Mutation·Núria López-BigasXavier Estivill
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Oct 23, 2003·American Journal of Human Genetics·Ignacio Del CastilloFelipe Moreno
Jul 15, 2005·Journal of Medical Genetics·S V TavtigianA Thomas
Nov 16, 2005·Journal of Basic and Clinical Physiology and Pharmacology·Adi D SabagKaren B Avraham
Nov 22, 2005·The Journal of Investigative Dermatology·John E A CommonDavid P Kelsell
Jan 26, 2006·Glia·Jürgen EibergerKlaus Willecke
Mar 9, 2006·Nucleic Acids Research·Ewy MatheSean V Tavtigian
Nov 1, 2006·Protein Science : a Publication of the Protein Society·Min-Yi Shen, Andrej Sali
Aug 31, 2007·European Journal of Cell Biology·Qingyi Zheng-FischhöferKlaus Willecke
Nov 3, 2007·Genome Biology·Boris RevaChris Sander
Mar 14, 2009·American Journal of Medical Genetics. Part a·Fabiana AlexandrinoEdi Lúcia Sartorato
Jun 30, 2009·Nature Protocols·Prateek KumarPauline C Ng
Feb 27, 2010·Hearing Research·Wen-Hung WangShuan-Yow Li
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 2, 2010·Human Genetics·Jiann-Jou YangShuan-Yow Li
Jul 17, 2010·Genetic Testing and Molecular Biomarkers·Puppala Venkat RamchanderAshok Kumar Panda
Nov 10, 2010·Nucleic Acids Research·Craig KnoxDavid S Wishart
May 20, 2011·Nature·Guillaume LebonChristopher G Tate
Jul 6, 2011·Nucleic Acids Research·Boris RevaChris Sander
Mar 1, 2012·Bioinformatics·Konstantin OkonechnikovUNKNOWN UGENE team
Jun 1, 2012·Nucleic Acids Research·Junsu KoChaok Seok
Oct 4, 2012·Human Mutation·Hashem A ShihabTom R Gaunt
Oct 12, 2012·PloS One·Yongwook ChoiAgnes P Chan
Oct 23, 2012·European Journal of Medical Genetics·Ambroise WonkamGeneviève Bengono Toure
Nov 13, 2012·International Journal of Pediatric Otorhinolaryngology·Daniz KooshavarMorteza Hashemzadeh-Chaleshtori
Apr 27, 2013·Bioinformatics·Hashem A ShihabTom R Gaunt
Aug 1, 2013·The Laryngoscope·Dylan K Chan, Kay W Chang
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
May 20, 2014·Bulletin of the World Health Organization·Bolajoko O OlusanyaJames E Saunders
Jul 2, 2014·Human Genomics·Hashem A ShihabTom R Gaunt
Dec 7, 2014·Journal of Speech, Language, and Hearing Research : JSLHR·Elizabeth MurrayKirrie J Ballard
Apr 9, 2015·Bioinformatics·Yongwook Choi, Agnes P Chan
May 15, 2015·BMC Medical Genetics·Ivone U S LeongDonald R Love
Jun 6, 2015·South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde·A WonkamC Dandara
Jun 13, 2015·Lancet·UNKNOWN Global Burden of Disease Study 2013 Collaborators
Jun 16, 2015·Frontiers in Cellular Neuroscience·Jeffrey C Wingard, Hong-Bo Zhao
Jan 5, 2016·Nature Genetics·Iuliana Ionita-LazaJoseph D Buxbaum
Aug 27, 2016·Scientific Reports·G BademciM Tekin
Jan 31, 2017·American Journal of Human Genetics·Quan Li, Kai Wang
Apr 4, 2017·International Journal of Medical Sciences·Swee-Hee WongJiann-Jou Yang
Apr 13, 2017·Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences·Mehri KhoshhaliAzadeh Zolfaghari Baghbaderani
May 2, 2017·Biochimica Et Biophysica Acta. Biomembranes·Miduturu SrinivasThomas W White
May 18, 2017·Human Genomics·Khalid MahmoodDaniel J Park
❮ Previous
Next ❯
Citations
Nov 1, 2020·Life·Samuel Mawuli AdadeyAmbroise Wonkam
Oct 6, 2021·Human Genetics·Samuel Mawuli AdadeyAmbroise Wonkam
❮ Previous
Next ❯
Methods Mentioned
BETA
PCR
X-ray
nuclear magnetic resonance
Software Mentioned
MutationTaster
MutPred2 ( Mutation Prediction 2 )
Galaxy
RAMPAGE
PROVEAN ( Protein Variation Effect Analyzer )
PER viewer
PyMOL
Modeler
Ensembl
InterVar
Related Concepts
Related Feeds
Auditory Perception
Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.
Related Papers
Human Genetics
Jiann-Jou YangShuan-Yow Li
International Journal of Pediatric Otorhinolaryngology
Daniz KooshavarMorteza Hashemzadeh-Chaleshtori
OncoTargets and Therapy
GuiYuan LiuYongHui Zhang
Molecular Medicine Reports
Tung-Cheng LiJiann-Jou Yang