134 related articles for article (PubMed ID: 21081971)
1. Does the HSD17B10 gene escape from X-inactivation?
He XY; Dobkin C; Yang SY
Eur J Hum Genet; 2011 Feb; 19(2):123-4; author reply 124. PubMed ID: 21081971
[No Abstract] [Full Text] [Related]
2. X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
García-Villoria J; Gort L; Madrigal I; Fons C; Fernández C; Navarro-Sastre A; Milà M; Briones P; García-Cazorla A; Campistol J; Ribes A
Eur J Hum Genet; 2010 Dec; 18(12):1353-5. PubMed ID: 20664630
[TBL] [Abstract][Full Text] [Related]
3. Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q; Chen P; Liu J; Lou J; Liu Y; Yuan H
BMC Med Genomics; 2020 May; 13(1):66. PubMed ID: 32381089
[TBL] [Abstract][Full Text] [Related]
4. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Froyen G; Corbett M; Vandewalle J; Jarvela I; Lawrence O; Meldrum C; Bauters M; Govaerts K; Vandeleur L; Van Esch H; Chelly J; Sanlaville D; van Bokhoven H; Ropers HH; Laumonnier F; Ranieri E; Schwartz CE; Abidi F; Tarpey PS; Futreal PA; Whibley A; Raymond FL; Stratton MR; Fryns JP; Scott R; Peippo M; Sipponen M; Partington M; Mowat D; Field M; Hackett A; Marynen P; Turner G; Gécz J
Am J Hum Genet; 2008 Feb; 82(2):432-43. PubMed ID: 18252223
[TBL] [Abstract][Full Text] [Related]
5. Transcription start sites and epigenetic analysis of the HSD17B10 proximal promoter.
Yang SY; Dobkin C; He XY; Brown WT
BMC Biochem; 2013 Jul; 14():17. PubMed ID: 23834306
[TBL] [Abstract][Full Text] [Related]
6. FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
Vazna A; Musova Z; Vlckova M; Novotna D; Dvorakova L; Hrdlicka M; Havlovicova M; Sedlacek Z
Am J Med Genet A; 2010 May; 152A(5):1273-7. PubMed ID: 20425835
[TBL] [Abstract][Full Text] [Related]
7. Escape Artists of the X Chromosome.
Balaton BP; Brown CJ
Trends Genet; 2016 Jun; 32(6):348-359. PubMed ID: 27103486
[TBL] [Abstract][Full Text] [Related]
8. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L; Mackenroth L; Betcheva-Krajcir E; Rump A; Beck-Wödl S; Schallner J; Di Donato N; Schröck E; Tzschach A
Am J Med Genet A; 2017 Sep; 173(9):2545-2550. PubMed ID: 28777483
[TBL] [Abstract][Full Text] [Related]
9. A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
Holden ST; Clarkson A; Thomas NS; Abbott K; James MR; Willatt L
Am J Med Genet A; 2010 Jul; 152A(7):1735-40. PubMed ID: 20578133
[TBL] [Abstract][Full Text] [Related]
10. Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.
Zou YS; Milunsky JM
Am J Med Genet A; 2009 Nov; 149A(11):2573-7. PubMed ID: 19876908
[No Abstract] [Full Text] [Related]
11. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
Yang SY; He XY; Olpin SE; Sutton VR; McMenamin J; Philipp M; Denman RB; Malik M
Proc Natl Acad Sci U S A; 2009 Sep; 106(35):14820-4. PubMed ID: 19706438
[TBL] [Abstract][Full Text] [Related]
12. Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.
Navarro-Cobos MJ; Balaton BP; Brown CJ
Am J Med Genet C Semin Med Genet; 2020 Jun; 184(2):226-238. PubMed ID: 32441398
[TBL] [Abstract][Full Text] [Related]
13. X-chromosome inactivation: implications in human disease.
Pereira G; Dória S
J Genet; 2021; 100():. PubMed ID: 34553695
[TBL] [Abstract][Full Text] [Related]
14. Strong purifying selection at genes escaping X chromosome inactivation.
Park C; Carrel L; Makova KD
Mol Biol Evol; 2010 Nov; 27(11):2446-50. PubMed ID: 20534706
[TBL] [Abstract][Full Text] [Related]
15. HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Korman SH; Yang SY
Mol Genet Metab; 2007 May; 91(1):115. PubMed ID: 17317257
[No Abstract] [Full Text] [Related]
16. Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized by separate multifunctional proteins.
Dieuaide-Noubhani M; Novikov D; Baumgart E; Vanhooren JC; Fransen M; Goethals M; Vandekerckhove J; Van Veldhoven PP; Mannaerts GP
Eur J Biochem; 1996 Sep; 240(3):660-6. PubMed ID: 8856068
[TBL] [Abstract][Full Text] [Related]
17. Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
Basit S; Malibari OI; Al-Balawi AM; Afzal S; Eldardear AE; Ramzan K
Am J Med Genet A; 2016 Jan; 170A(1):87-93. PubMed ID: 26358363
[TBL] [Abstract][Full Text] [Related]
18. Evidence of influence of genomic DNA sequence on human X chromosome inactivation.
Wang Z; Willard HF; Mukherjee S; Furey TS
PLoS Comput Biol; 2006 Sep; 2(9):e113. PubMed ID: 16948528
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Seaver LH; He XY; Abe K; Cowan T; Enns GM; Sweetman L; Philipp M; Lee S; Malik M; Yang SY
PLoS One; 2011; 6(11):e27348. PubMed ID: 22132097
[TBL] [Abstract][Full Text] [Related]
20. Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias.
Dunford A; Weinstock DM; Savova V; Schumacher SE; Cleary JP; Yoda A; Sullivan TJ; Hess JM; Gimelbrant AA; Beroukhim R; Lawrence MS; Getz G; Lane AA
Nat Genet; 2017 Jan; 49(1):10-16. PubMed ID: 27869828
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
