458 related articles for article (PubMed ID: 19235233)
1. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
[TBL] [Abstract][Full Text] [Related]
2. PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S; Le Bizec C; De Lonlay P; Madinier-Chappat N; Barnier A; Dupré T; Durand G; Seta N
Mol Genet Metab; 2006 Apr; 87(4):337-40. PubMed ID: 16376131
[TBL] [Abstract][Full Text] [Related]
3. Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
Quelhas D; Quental R; Vilarinho L; Amorim A; Azevedo L
Ann Hum Genet; 2007 May; 71(Pt 3):348-53. PubMed ID: 17166182
[TBL] [Abstract][Full Text] [Related]
4. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E; Keldermans L; Foulquier F; Briones P; Chabas A; Sánchez-Valverde F; Adamowicz M; Pronicka E; Wevers R; Matthijs G
Mol Genet Metab; 2007 Apr; 90(4):408-13. PubMed ID: 17307006
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL; Homer VM; George PM; Brennan SO
Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
[TBL] [Abstract][Full Text] [Related]
7. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
[TBL] [Abstract][Full Text] [Related]
8. A new insight into PMM2 mutations in the French population.
Le Bizec C; Vuillaumier-Barrot S; Barnier A; Dupré T; Durand G; Seta N
Hum Mutat; 2005 May; 25(5):504-5. PubMed ID: 15844218
[TBL] [Abstract][Full Text] [Related]
9. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
12. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G; Schollen E; Bjursell C; Erlandson A; Freeze H; Imtiaz F; Kjaergaard S; Martinsson T; Schwartz M; Seta N; Vuillaumier-Barrot S; Westphal V; Winchester B
Hum Mutat; 2000 Nov; 16(5):386-94. PubMed ID: 11058895
[TBL] [Abstract][Full Text] [Related]
13. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
Vuillaumier-Barrot S; Barnier A; Cuer M; Durand G; Grandchamp B; Seta N
Hum Mutat; 1999 Dec; 14(6):543-4. PubMed ID: 10571956
[TBL] [Abstract][Full Text] [Related]
14. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
15. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
[TBL] [Abstract][Full Text] [Related]
16. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
[TBL] [Abstract][Full Text] [Related]
17. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
Eklund EA; Merbouh N; Ichikawa M; Nishikawa A; Clima JM; Dorman JA; Norberg T; Freeze HH
Glycobiology; 2005 Nov; 15(11):1084-93. PubMed ID: 16079417
[TBL] [Abstract][Full Text] [Related]
18. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
Schollen E; Kjaergaard S; Legius E; Schwartz M; Matthijs G
Eur J Hum Genet; 2000 May; 8(5):367-71. PubMed ID: 10854097
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.
Gámez-Pozo A; Palacios I; Kontic M; Menéndez I; Camino I; García-Miguel P; Abelairas J; Pestaña A; Alonso J
Hum Mutat; 2007 Dec; 28(12):1245. PubMed ID: 18000883
[TBL] [Abstract][Full Text] [Related]
20. PMM2-CDG: phenotype and genotype in four affected family members.
Bortot B; Cosentini D; Faletra F; Biffi S; De Martino E; Carrozzi M; Severini GM
Gene; 2013 Dec; 531(2):506-9. PubMed ID: 23988505
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
