Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
about
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horsesCoat color and coat color pattern-related neurologic and neuro-ophthalmic diseasesMLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanomaUnderstanding Melanocyte Stem Cells for Disease Modeling and Regenerative Medicine ApplicationsA MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattleIdentification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITFVMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE familyMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeAllelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Clinical and genetic investigation of families with type II Waardenburg syndrome.Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndromeGenomic and transcriptional co-localization of protein-coding and long non-coding RNA pairs in the developing brain.Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanomaNetworks and pathways in pigmentation, health, and disease.Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese.A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogsYY1 regulates melanocyte development and function by cooperating with MITF.The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.Characterization of an ERK-binding domain in microphthalmia-associated transcription factor and differential inhibition of ERK2-mediated substrate phosphorylation.Subfunctionalization of duplicate mitf genes associated with differential degeneration of alternative exons in fish.Splitting pairs: the diverging fates of duplicated genes.Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival.Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders.Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo.Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.Piebaldism: an update.Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur.Light and inherited retinal degeneration.Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.Differential evolution of duplicated medakafish mitf genes.MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.The three M's: melanoma, microphthalmia-associated transcription factor and microRNA.Piebaldism: A brief report and review of the literature.Hearing loss in Waardenburg syndrome: a systematic review.A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation.The identification and functional characterization of a novel mast cell isoform of the microphthalmia-associated transcription factor.mitfa is required at multiple stages of melanocyte differentiation but not to establish the melanocyte stem cell.A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.
P2860
Q21144921-23D93ECB-36CD-49F4-BA63-1AC0BC64DACEQ24615712-35DBAB4D-9322-4F57-94CD-8407E9A03A3CQ24685652-087324E8-145A-44F1-819A-EBFC2786A876Q26772030-2B25002B-C296-44E3-8A2A-19EA416470ECQ27311223-0AEC84DF-7773-4E58-8C39-B6B2D9892457Q28204392-A704BE42-D438-438D-9524-5D23CECF7731Q28272423-E9A97E40-2427-4AFE-B939-A395C698E989Q28577857-31F23032-9AB7-4E88-9CE7-2A2836EAA7E8Q29147522-0EFB5E30-3C7D-4B0D-8ADA-995F2272640DQ30388856-9E119DEB-1573-4DF8-BD9F-388661CB57C3Q30399644-D8E9553A-7488-4E8D-8D04-C664D97EB00CQ33495562-6C2B390B-E820-415B-B77F-DAAE6F567812Q33531917-36AF0437-9D5C-4522-8C0F-F38D39CB85DDQ33584524-01501EF9-CD9E-4854-9360-53532792E544Q33850392-BDB3B9AD-15F3-48D0-9131-A8CC1BA7553DQ33885109-7D97B516-FA1E-44D4-8AE7-A7204E2ECE38Q34035308-1E35AE16-F5F2-4461-9F01-74E223755B1DQ34263172-D40A851E-5DD2-42E8-8259-8054E9518FD3Q34342693-FFA90A14-011C-45E7-99F8-6C3331FC1BDDQ34473579-5F343DC9-911B-4B56-9AA2-62E303B7BA8EQ34615189-6DFC617E-0035-4643-95DB-18DCD2C719DFQ34988378-03E90BC0-DAC8-42A2-8194-0A1324C68BF2Q35146535-6AC8A210-48F6-4E62-9F0B-80E945ED24E8Q35771686-9007285F-12CD-4B1D-A7E0-C9A85CEAF72FQ35791405-E793DCE2-BE94-40DA-95AB-37163E8EF5E0Q35899342-AB731D16-F051-43D9-8BED-0CDB6CA99638Q35918758-82CD17C6-CC0F-41EF-8486-06573E420DAEQ36018123-A594559C-BEDF-4EAA-8C65-D553B0BBD3F1Q36481342-108259BA-85E2-48C6-A307-F8ECD9547F50Q36730194-48415C12-5654-4311-AABE-85FC90F7FE08Q36916235-8BD425D6-4F42-420C-A9B7-4751222F907EQ37463551-6976C313-B28B-4B50-B246-10AA75CD997BQ37946457-F5E518C1-4A44-439F-A8C6-44E0900D3DE4Q38058101-E2A21A6C-76C5-4AEE-883C-A64EBDC2F13FQ38534660-30C97AA4-F03B-4F3D-9CF1-1C777D0AE885Q38687462-AEB2217B-8B2E-41E6-A933-B16E49844F03Q40585958-870DCD70-EDD6-49F9-A19E-8AD05159B91FQ40728316-7E410E5F-C0D4-403A-A50A-02C0F9DD2C19Q41844242-AEE60DEB-F5C5-4AAD-A269-3F02058066D9Q46841839-C35016CA-E78E-45B5-92CB-928A66DF4920
P2860
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@ast
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@en
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@nl
type
label
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@ast
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@en
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@nl
prefLabel
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@ast
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@en
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@nl
P2093
P356
P1476
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
@en
P2093
P356
10.1136/JMG.37.6.446
P407
P577
2000-06-01T00:00:00Z