A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
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L. Vissers | J. Veltman | C. Gilissen | H. Bokhoven | Shaheen N. Khan | S. Riazuddin | Z. Iqbal | T. Kleefstra | M. Shahzad | A. Brouwer | D. Lefeber | M. Zahoor | A. Razzaq | M. Scherpenzeel | M. V. Scherpenzeel
[1] Christian Gilissen,et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. , 2012, Human molecular genetics.
[2] R. Rossi,et al. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. , 2012, Molecular genetics and metabolism.
[3] E. Morava,et al. Congenital disorders of glycosylation: sweet news , 2011, Current opinion in pediatrics.
[4] J. Schuurs-Hoeijmakers,et al. Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation , 2011, PLoS genetics.
[5] E. Morava,et al. How to find and diagnose a CDG due to defective N-glycosylation , 2011, Journal of Inherited Metabolic Disease.
[6] J. Jaeken,et al. Congenital disorders of glycosylation , 2010, Annals of the New York Academy of Sciences.
[7] Christian Gilissen,et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. , 2010, American journal of human genetics.
[8] M. Kukuruzinska,et al. N-Glycosylation Gene DPAGT1 Is a Target of the Wnt/β-Catenin Signaling Pathway* , 2010, The Journal of Biological Chemistry.
[9] Christian Gilissen,et al. Massively parallel sequencing of ataxia genes after array‐based enrichment , 2010, Human mutation.
[10] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[11] J. Fernández-Recio,et al. Helix propensities of conformationally restricted amino acids. Non-natural substitutes for helix breaking proline and helix forming alanine. , 2010, Organic & biomolecular chemistry.
[12] E. Capriotti,et al. Functional annotations improve the predictive score of human disease‐related mutations in proteins , 2009, Human mutation.
[13] J. Hofsteenge,et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. , 2009, American journal of human genetics.
[14] J. Gécz,et al. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. , 2008, American journal of human genetics.
[15] G. Matthijs,et al. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening , 2007, Journal of Neurology.
[16] D. Appleton,et al. Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype , 2007, Journal of Clinical Neuroscience.
[17] Shigeru Chiba,et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. , 2005, Cancer research.
[18] S. Vuillaumier-Barrot. Diagnostic moléculaire des anomalies congénitales de la glycosylation , 2005 .
[19] H. Freeze,et al. Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij , 2003, Human mutation.
[20] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[21] H. Freeze. Human disorders in N-glycosylation and animal models. , 2002, Biochimica et biophysica acta.
[22] J. Marth,et al. A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality. , 1999, Glycobiology.
[23] A. Eisenberg,et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. , 1989, Nucleic acids research.
[24] D. Babovic‐Vuksanovic,et al. Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms , 2012, Molecular Diagnosis & Therapy.
[25] Z. Al-Hassnan,et al. Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping. , 2012, JIMD reports.
[26] S. Vuillaumier‐Barrot. [Molecular diagnosis of congenital disorders of glycosylation]. , 2005, Annales de Biologie Clinique.
[27] S Rozen,et al. Primer3 on the WWW for general users and for biologist programmers. , 2000, Methods in molecular biology.
[28] H. G. Eijk,et al. Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition. , 1994 .