scholarly article | Q13442814 |
P50 | author | Barbara Vona | Q59817354 |
P2093 | author name string | Tobias Müller | |
Indrajit Nanda | |||
Thomas Haaf | |||
Cordula Neuner | |||
P2860 | cites work | Predicting deleterious amino acid substitutions | Q22065761 |
A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead | Q24304288 | ||
Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway | Q24791079 | ||
A method and server for predicting damaging missense mutations | Q27860835 | ||
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28 | Q28209898 | ||
Regional neural tube closure defined by the Grainy head-like transcription factors | Q28506595 | ||
The transcription factor grainyhead-like 2 regulates the molecular composition of the epithelial apical junctional complex | Q28591754 | ||
MutationTaster evaluates disease-causing potential of sequence alterations | Q29615749 | ||
Characterising and predicting haploinsufficiency in the human genome. | Q33728629 | ||
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders | Q34006948 | ||
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 strengths | Q42616265 | ||
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 mutations | Q47577422 | ||
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals | Q48531006 | ||
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. | Q50455381 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 2060-2065 | |
P577 | publication date | 2013-06-27 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Confirmation of GRHL2 as the gene for the DFNA28 locus | |
P478 | volume | 161A |
Q61797477 | 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy |
Q49891657 | Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations. |
Q89671520 | Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness |
Q36211885 | Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients |
Q52677020 | Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. |
Q38684025 | Grainyhead-like Transcription Factors in Craniofacial Development. |
Q55436692 | Hereditary hearing loss SNP-microarray pilot study. |
Q91547180 | Interrogating the Grainyhead-like 2 (Grhl2) genomic locus identifies an enhancer element that regulates palatogenesis in mouse |
Q24302372 | Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome |
Q34033991 | Progress and prospects in human genetic research into age-related hearing impairment |
Q89734622 | Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss |
Q99712241 | Spotlight on the Granules (Grainyhead-Like Proteins) - From an Evolutionary Conserved Controller of Epithelial Trait to Pioneering the Chromatin Landscape |
Q48204568 | Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease. |
Search more.