An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
about
Missense mutation in the alternative splice region of the PAX6 gene in eye anomaliesMutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyPendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsSHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb developmentEpistatic relationship between Waardenburg syndrome genes MITF and PAX3Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation propertiesMutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifidaWaardenburg syndromeRetrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexesPaired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytesOsteoimmunology: interactions of the bone and immune systemWaardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumHomozygosity for Waardenburg syndromeFurther elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two familiesLinkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3Expression of Pax5 gene in human haematopoietic cells and tissues: comparison with immunodeficient donorsThe gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytesGenomic structure, evolutionary conservation and aniridia mutations in the human PAX6 geneExclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndromeRegulation of Pax3 transcriptional activity by SUMO-1-modified PMLThe human PAX6 gene is mutated in two patients with aniridiaPseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromePAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsChromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseA mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 genePositional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative GroupCloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeDistinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumorsA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyTranscription factors in inner ear developmentWaardenburg syndrome and myelomeningocele in a family.A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.Absence of linkage between familial neural tube defects and PAX3 gene.Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
P2860
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P2860
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@ast
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@en
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@nl
type
label
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@ast
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@en
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@nl
prefLabel
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@ast
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@en
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@nl
P2093
P356
P1433
P1476
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
@en
P2093
C T Baldwin
E O da-Silva
P2888
P356
10.1038/355637A0
P407
P577
1992-02-13T00:00:00Z
P6179
1032292739