Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
about
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedInvolvement of the HLXB9 homeobox gene in Currarino syndromeNovel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndromeDeletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylyA longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeA simple method for generating full length cDNA from low abundance partial genomic clonesMutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese familiesHuman HOX gene mutationsLimb malformations and the human HOX genesMammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophyHoxc13 mutant mice lack external hairMicrosatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomesShared Enhancer Activity in the Limbs and Phallus and Functional Divergence of a Limb-Genital cis-Regulatory Element in SnakesMolecular origins of rapid and continuous morphological evolutionRunx family genes in a cartilaginous fish, the elephant shark (Callorhinchus milii).Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.Tibial agenesis, femoral duplication, and caudal midline anomalies.Deletion and point mutations of PTHLH cause brachydactyly type E.Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation.Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.Genetic disorders of the skeleton: a developmental approachRdp1, a novel zinc finger protein, regulates the DNA damage response of rhp51(+) from Schizosaccharomyces pombe.Stress, genomes, and evolutionIsolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.Functional classification and mutation analysis of a synpolydactyly kindred.Cloning and comparative analysis of the bovine, porcine, and equine sex chromosome genes ZFX and ZFY.Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionThe homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass culturesA nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.The epidemiology, genetics and future management of syndactyly.Drosophila, the golden bug, emerges as a tool for human genetics.Breakpoints around the HOXD cluster result in various limb malformations.Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.Molecular basis for skeletal variation: insights from developmental genetic studies in mice.Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear ImportFork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.
P2860
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P2860
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@ast
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en-gb
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@nl
type
label
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@ast
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en-gb
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@nl
prefLabel
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@ast
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en-gb
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@nl
P2093
P2860
P3181
P356
P1476
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
@en
P2093
F Majewski
F R Goodman
M L Giovannucci-Uzielli
P J Scambler
R M Winter
P2860
P304
P3181
P356
10.1073/PNAS.94.14.7458
P407
P577
1997-07-08T00:00:00Z