Confirmation of GRHL2 as the gene for the DFNA28 locus.

scientific article

Confirmation of GRHL2 as the gene for the DFNA28 locus. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/AJMG.A.36017
P932PMC publication ID3884766
P698PubMed publication ID23813623
P5875ResearchGate publication ID243969750

P50authorBarbara VonaQ59817354
P2093author name stringTobias Müller
Indrajit Nanda
Thomas Haaf
Cordula Neuner
P2860cites workPredicting deleterious amino acid substitutionsQ22065761
A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyheadQ24304288
Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathwayQ24791079
A method and server for predicting damaging missense mutationsQ27860835
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28Q28209898
Regional neural tube closure defined by the Grainy head-like transcription factorsQ28506595
The transcription factor grainyhead-like 2 regulates the molecular composition of the epithelial apical junctional complexQ28591754
MutationTaster evaluates disease-causing potential of sequence alterationsQ29615749
Characterising and predicting haploinsufficiency in the human genome.Q33728629
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disordersQ34006948
Efficient internal exon recognition depends on near equal contributions from the 3' and 5' splice sites.Q35468251
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengthsQ42616265
Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.Q47073283
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutationsQ47577422
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signalsQ48531006
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.Q50455381
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)2060-2065
P577publication date2013-06-27
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleConfirmation of GRHL2 as the gene for the DFNA28 locus
P478volume161A

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cites work (P2860)
Q617974778q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
Q49891657Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.
Q89671520Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
Q36211885Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
Q52677020Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Q38684025Grainyhead-like Transcription Factors in Craniofacial Development.
Q55436692Hereditary hearing loss SNP-microarray pilot study.
Q91547180Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse
Q24302372Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome
Q34033991Progress and prospects in human genetic research into age-related hearing impairment
Q89734622Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
Q99712241Spotlight on the Granules (Grainyhead-Like Proteins) - From an Evolutionary Conserved Controller of Epithelial Trait to Pioneering the Chromatin Landscape
Q48204568Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

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