polyalanine

homeobox D13 ; Homo sapiens







33 Article(s)
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1 34859533 Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly. 2022 Feb 2
2 33533119 Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families. 2021 Sep 2
3 34777468 A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations. 2021 1
4 32509852 A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype. 2020 1
5 26581570 A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. 2016 Mar 1
6 26252089 [Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly]. 2015 Aug 2
7 25289061 Functional classification and mutation analysis of a synpolydactyly kindred. 2014 Nov 1
8 24055421 A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. 2013 Dec 15 1
9 21782042 Limb skeletal malformations - what the HOX is going on? 2012 Jan 1
10 22373878 An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. 2012 Jun 1 1
11 20974300 Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly. 2011 Mar-Apr 2
12 21814222 A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. 2011 Oct 1
13 19074008 Adaptive evolution of 5'HoxD genes in the origin and diversification of the cetacean flipper. 2009 Mar 1
14 19686284 Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. 2009 Sep 1
15 17236141 Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 2007 Feb 4
16 17656229 Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. 2007 Jul 1
17 17935235 Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. 2007 Dec 15 2
18 18072967 Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. 2007 Dec 11 5
19 16497573 Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. 2006 Sep-Oct 2
20 15696469 [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]. 2005 Feb 5
21 15952114 Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. 2005 Jun 1
22 15333588 A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. 2004 Oct 15 1
23 12649808 Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 2003 Apr 1
24 12900906 An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. 2003 Aug 15 1
25 14669516 [Genetic analysis of a Chinese pedigree with congenital synpolydactyly]. 2003 Oct 1
26 12073020 A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? 2002 May 1
27 12116248 HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. 2002 Jun 15 3
28 11543619 The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. 2001 Sep 15 2
29 9758628 Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. 1998 Oct 1
30 9005557 Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. 1997 Jan 17 1
31 9207113 Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. 1997 Jul 8 3
32 8614804 Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. 1996 Apr 26 2
33 8817328 Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. 1996 Jul 1