152 related articles for article (PubMed ID: 10536986)
1. A cascade of genes related to Waardenburg syndrome.
Tachibana M
J Investig Dermatol Symp Proc; 1999 Sep; 4(2):126-9. PubMed ID: 10536986
[TBL] [Abstract][Full Text] [Related]
2. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
Bondurand N; Pingault V; Goerich DE; Lemort N; Sock E; Le Caignec C; Wegner M; Goossens M
Hum Mol Genet; 2000 Aug; 9(13):1907-17. PubMed ID: 10942418
[TBL] [Abstract][Full Text] [Related]
3. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M; Miliński M; Buszman E; Wrześniok D; Beberok A
Postepy Hig Med Dosw (Online); 2013 Nov; 67():1109-18. PubMed ID: 24379252
[TBL] [Abstract][Full Text] [Related]
4. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
Verastegui C; Bille K; Ortonne JP; Ballotti R
J Biol Chem; 2000 Oct; 275(40):30757-60. PubMed ID: 10938265
[TBL] [Abstract][Full Text] [Related]
5. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
Watanabe A; Takeda K; Ploplis B; Tachibana M
Nat Genet; 1998 Mar; 18(3):283-6. PubMed ID: 9500554
[TBL] [Abstract][Full Text] [Related]
6. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ
Hum Genet; 2000 Jul; 107(1):1-6. PubMed ID: 10982026
[TBL] [Abstract][Full Text] [Related]
7. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
Nobukuni Y; Watanabe A; Takeda K; Skarka H; Tachibana M
Am J Hum Genet; 1996 Jul; 59(1):76-83. PubMed ID: 8659547
[TBL] [Abstract][Full Text] [Related]
8. Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.
Tachibana M
Pigment Cell Res; 1997; 10(1-2):25-33. PubMed ID: 9170159
[TBL] [Abstract][Full Text] [Related]
9. The mutational spectrum in Waardenburg syndrome.
Tassabehji M; Newton VE; Liu XZ; Brady A; Donnai D; Krajewska-Walasek M; Murday V; Norman A; Obersztyn E; Reardon W
Hum Mol Genet; 1995 Nov; 4(11):2131-7. PubMed ID: 8589691
[TBL] [Abstract][Full Text] [Related]
10. Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations.
Corry GN; Underhill DA
Pigment Cell Res; 2005 Dec; 18(6):427-38. PubMed ID: 16280008
[TBL] [Abstract][Full Text] [Related]
11. [Clinical and molecular genetic investigation of Waardenburg syndrome type 1].
Markova TG; Megrelishvilli SM; Shevtsov SP; Shvarts EI
Vestn Otorinolaringol; 2003; (1):17-9. PubMed ID: 12666593
[TBL] [Abstract][Full Text] [Related]
12. Three cases of Waardenburg syndrome type 2 in a Korean family.
Choi JH; Moon SK; Lee KH; Lew HM; Chang YH
Korean J Ophthalmol; 2004 Dec; 18(2):185-9. PubMed ID: 15635834
[TBL] [Abstract][Full Text] [Related]
13. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.
Takeda K; Takemoto C; Kobayashi I; Watanabe A; Nobukuni Y; Fisher DE; Tachibana M
Hum Mol Genet; 2000 Jan; 9(1):125-32. PubMed ID: 10587587
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
Hoth CF; Milunsky A; Lipsky N; Sheffer R; Clarren SK; Baldwin CT
Am J Hum Genet; 1993 Mar; 52(3):455-62. PubMed ID: 8447316
[TBL] [Abstract][Full Text] [Related]
15. Mouse models for four types of Waardenburg syndrome.
Tachibana M; Kobayashi Y; Matsushima Y
Pigment Cell Res; 2003 Oct; 16(5):448-54. PubMed ID: 12950719
[TBL] [Abstract][Full Text] [Related]
16. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H
Clin Genet; 2013 Jan; 83(1):78-82. PubMed ID: 22320238
[TBL] [Abstract][Full Text] [Related]
17. [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
Chen Y; Yang F; Zheng H; Zhu G; Hu P; Wu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):810-3. PubMed ID: 26663054
[TBL] [Abstract][Full Text] [Related]
18. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Tekin M; Bodurtha JN; Nance WE; Pandya A
Clin Genet; 2001 Oct; 60(4):301-4. PubMed ID: 11683776
[TBL] [Abstract][Full Text] [Related]
19. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Tassabehji M; Newton VE; Leverton K; Turnbull K; Seemanova E; Kunze J; Sperling K; Strachan T; Read AP
Hum Mol Genet; 1994 Jul; 3(7):1069-74. PubMed ID: 7981674
[TBL] [Abstract][Full Text] [Related]
20. Further 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 families.
Lalwani AK; Brister JR; Fex J; Grundfast KM; Ploplis B; San Agustin TB; Wilcox ER
Am J Hum Genet; 1995 Jan; 56(1):75-83. PubMed ID: 7825605
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
