Splice site mutation
Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
... The mutation identified here was not found in any of the public databases 1000G and ExAC, and was not present either in a local database of 638 sequenced pa- ...this mutation was not identified ...
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A novel splice-site mutation in RHD gene associated with RhD negative phenotype
... D mutation and their associated immunohematological ...novel splice-site mutation alters or completely abolishes the specific sequence where the splicing of RHD gene intron 5 takes ...
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Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
... EYA1 splice site mutation, c.1475 + 1G > C, in the donor site of exon ...this mutation affects EYA1 splicing, producing an aberrant mRNA tran- script, lacking exon 15, that is ...
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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda
... decarboxylase locus cause the human genetic disease familial porphyria cutanea tarda. A splice site mutation has been found in a pedigree with familial porphyria cutanea tarda that causes exon 6 to ...
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Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
... nism [14]. However, we confirmed by means of RT-PCR that transcripts with exon 7 skipped remain in mRNA from not only peripheral blood lymphocytes but also uri- nary sediments. Exon 7 of the MR gene contains 131 bp and ...
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A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
... A case of congenital goiter with defective thyroglobulin synthesis has been studied in molecular terms. The patient is the fifth of a kindred of six, three of which have a goiter. The parents are first cousins. ...
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Spectrin Rouen (beta 220 218), a novel shortened beta chain variant in a kindred with hereditary elliptocytosis Characterization of the molecular defect as exon skipping due to a splice site mutation
... a mutation in the 5' donor consensus splice site of the intron downstream of the Y exon, TGG/GTGAGT to TGG/GTTAGT, in one ...this mutation leads to the splicing out or skipping of exon Y, thus ...
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Molecular genetic studies on disorders of calcium and phosphate homeostasis
... donor splice site mutation at the exon 2/intron 2 boundary of the PTH gene in one pedigree with autosomal recessive hypoparathyroidism and have demonstrated that this mutation cosegregates ...
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Splice acceptor site mutation of the transporter associated with antigen processing 1 gene in human bare lymphocyte syndrome
... Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associated with antigen processing 1 and 2 (TAP1 and TAP2), which transport ...
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The molecular basis of hereditary complement factor I deficiency
... cryptic splice sites in the vicinity of the mutated donor site of the fifth intron is com- patible with the small size of the fifth ...given splice site to the consensus sequence) devised by ...
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Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
... Family 4 appears to present a relationship with the other studied families (1 and 2), as second cousins. P4 developed early clinical manifestations at 9 months of age, e.g. dys- morphic facial appearance and ...
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Nucleotide 880 splice donor site required for efficient transformation and RNA accumulation by human papillomavirus type 16 E7 gene.
... ii Insertion of tacc into the splice donor site of transformation-incompetent splice site deletion mutant pY7KB1 restored wild-type sequence and both the transformation phenotype Table 1[r] ...
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Utilization of the Bovine Papillomavirus Type 1 Late-Stage-Specific Nucleotide 3605 3′ Splice Site Is Modulated by a Novel Exonic Bipartite Regulator but Not by an Intronic Purine-Rich Element
... 3⬘ splice site at nucleotide (nt) 3225 and early poly(A) site at nt 4203 in the undifferentiated keratinocyte at early stages of virus ...3⬘ splice site at nt 3605 and the ...
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IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
... In order to identify the molecular defect, whole exome sequencing (WES) was performed. As the patient was born in a consanguineous family and showed a family history of recurrent infections and early death on the ...
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Messenger RNA reprogramming by spliceosome mediated RNA trans splicing
... 5′ splice site domain can trans-splice to a 3′ splice site in the target pre-mRNA (ii in Figure 5); a PTM with a 3 ′ splice site domain can trans-splice to a 5 ′ ...
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Song, In-Ho (2003): Klinische und molekulargenetische Charakterisierung von Patienten mit Kongenitalen Myasthenen Syndromen. Dissertation, LMU München: Medizinische Fakultät
... einer Mutation. Eine spezielle Frameshift-Mutation, die in Exon 12 zum Verlust eines G-Nukleotids führt (ε1267delG), konnten wir bei besonders vielen CMS-Patienten homozygot ...dieser Mutation bei 33 ...
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C3H Mouse Mammary Tumor Virus Superantigen Function Requires a Splice Donor Site in the Envelope Gene
... the splice donor mutant was not trans- mitted to newborn BALB/c progeny by the normal milk-borne ...the splice donor site within the envelope gene and at the ClaI site within the sag gene ...
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Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.
... The patient’s mother (H3) has three discrete bands, one matching the expected normal size and the others correspond- ing to the two deleted bands (D1 and D2) seen in the proband. This result indicates that she is a ...
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Negative and Positive mRNA Splicing Elements Act Competitively To Regulate Human Immunodeficiency Virus Type 1 Vif Gene Expression
... exon 2 contained additional cis elements that contributed to the regulation of splicing at 3 ⬘ ss A1. Preliminary experiments performed in the context of a gag/pol-deleted pNL4-3 plasmid indicated that point mutations ...
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JV-2019-Kutluay-e01048-19.full.pdf
... binding site 5, which contains three high-affinity binding sites for hnRNP H1, was similar to that toward the isolated G-rich sequence elements studied in ...why site 5 within the viral genome constitutes a ...
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