87 related articles for article (PubMed ID: 16549535)
1. Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Zhang YH; Huang BL; Jialal I; Northrup H; McCabe ER; Dipple KM
Pediatr Res; 2006 Apr; 59(4 Pt 1):590-2. PubMed ID: 16549535
[TBL] [Abstract][Full Text] [Related]
2. Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Sjarif DR; Hellerud C; van Amstel JK; Kleijer WJ; Sperl W; Lacombe D; Sass JO; Beemer FA; Duran M; Poll-The BT
Eur J Hum Genet; 2004 Jun; 12(6):424-32. PubMed ID: 15026783
[TBL] [Abstract][Full Text] [Related]
3. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
Sjarif DR; Sinke RJ; Duran M; Beemer FA; Kleijer WJ; Ploos van Amstel JK; Poll-The BT
J Med Genet; 1998 Aug; 35(8):650-6. PubMed ID: 9719371
[TBL] [Abstract][Full Text] [Related]
4. Isolated and contiguous glycerol kinase gene disorders: a review.
Sjarif DR; Ploos van Amstel JK; Duran M; Beemer FA; Poll-The BT
J Inherit Metab Dis; 2000 Sep; 23(6):529-47. PubMed ID: 11032329
[TBL] [Abstract][Full Text] [Related]
5. Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Dipple KM; Zhang YH; Huang BL; McCabe LL; Dallongeville J; Inokuchi T; Kimura M; Marx HJ; Roederer GO; Shih V; Yamaguchi S; Yoshida I; McCabe ER
Hum Genet; 2001 Jul; 109(1):55-62. PubMed ID: 11479736
[TBL] [Abstract][Full Text] [Related]
6. Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
MacLennan NK; Rahib L; Shin C; Fang Z; Horvath S; Dean J; Liao JC; McCabe ER; Dipple KM
Hum Mol Genet; 2006 Feb; 15(3):405-15. PubMed ID: 16368706
[TBL] [Abstract][Full Text] [Related]
7. Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
Stepanian SV; Huyn ST; McCabe ER; Dipple KM
Mol Genet Metab; 2003 Dec; 80(4):412-8. PubMed ID: 14654354
[TBL] [Abstract][Full Text] [Related]
8. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
Freddi S; Savarirayan R; Bateman JF
Am J Med Genet; 2000 Feb; 90(5):398-406. PubMed ID: 10706362
[TBL] [Abstract][Full Text] [Related]
9. Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
Hellerud C; Burlina A; Gabelli C; Ellis JR; Nyholm PG; Lindstedt S
Clin Chem Lab Med; 2003 Jan; 41(1):46-55. PubMed ID: 12636049
[TBL] [Abstract][Full Text] [Related]
10. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
Denecke J; Kranz C; Kemming D; Koch HG; Marquardt T
Hum Mutat; 2004 May; 23(5):477-86. PubMed ID: 15108280
[TBL] [Abstract][Full Text] [Related]
11. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
[TBL] [Abstract][Full Text] [Related]
12. A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.
Li CM; Chao HK; Liu YF; Su TS
Eur J Hum Genet; 2001 Sep; 9(9):685-9. PubMed ID: 11571557
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Ogino W; Takeshima Y; Nishiyama A; Okizuka Y; Yagi M; Tsuneishi S; Saiki K; Kugo M; Matsuo M
Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299
[TBL] [Abstract][Full Text] [Related]
14. Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Wieland I; Makarov R; Reardon W; Tinschert S; Goldenberg A; Thierry P; Wieacker P
Eur J Hum Genet; 2008 Feb; 16(2):184-91. PubMed ID: 18043713
[TBL] [Abstract][Full Text] [Related]
15. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
[TBL] [Abstract][Full Text] [Related]
16. Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene.
Soria JM; Berg LP; Fontcuberta J; Kakkar VV; Estivill X; Cooper DN; Sala N
Thromb Haemost; 1996 Jun; 75(6):870-6. PubMed ID: 8822578
[TBL] [Abstract][Full Text] [Related]
17. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
Hurtado B; Muñoz X; Mulero MC; Navarro G; Domènech P; García de Frutos P; Pérez-Riba M; Sala N
Haematologica; 2008 Apr; 93(4):574-80. PubMed ID: 18322254
[TBL] [Abstract][Full Text] [Related]
18. Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
Kuwada N; Nagano K; MacLennan N; Havens J; Kumar M; Dipple KM; McCabe ER
Biochem Biophys Res Commun; 2005 Sep; 335(1):247-55. PubMed ID: 16105550
[TBL] [Abstract][Full Text] [Related]
19. Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.
Hellerud C; Wramner N; Erikson A; Johansson A; Samuelson G; Lindstedt S
Acta Paediatr; 2004 Jul; 93(7):911-21. PubMed ID: 15303806
[TBL] [Abstract][Full Text] [Related]
20. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
Sargent CA; Kidd A; Moore S; Dean J; Besley GT; Affara NA
J Med Genet; 2000 Jun; 37(6):434-41. PubMed ID: 10851254
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]